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Tytuł:
Association between colorectal cancer, the frequency of Bacteroides fragilis, and the level of mismatch repair genes expression in the biopsy samples of Iranian patients.
Autorzy:
Nazarinejad N; Department of Microbiology, School of Medicine, Alborz University of Medical Sciences, Karaj, Iran.
Hajikhani B; Department of Microbiology, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Vaezi AA; Department of Internal Medicine, Alborz University of Medical Sciences, Karaj, Iran.
Firoozeh F; Department of Microbiology, School of Medicine, Alborz University of Medical Sciences, Karaj, Iran.
Sameni F; Department of Microbiology, Faculty of Medicine, Shahed University, Tehran, Iran.
Yaslianifard S; Department of Microbiology, School of Medicine, Alborz University of Medical Sciences, Karaj, Iran.
Goudarzi M; Department of Microbiology, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Dadashi M; Department of Microbiology, School of Medicine, Alborz University of Medical Sciences, Karaj, Iran. m_.; Non-Communicable Diseases Research Center, Alborz University of Medical Sciences, Karaj, Iran. m_.
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Źródło:
BMC gastroenterology [BMC Gastroenterol] 2024 Feb 23; Vol. 24 (1), pp. 82. Date of Electronic Publication: 2024 Feb 23.
Typ publikacji:
Journal Article
MeSH Terms:
Colorectal Neoplasms*/pathology
Colorectal Neoplasms, Hereditary Nonpolyposis*/diagnosis
Colorectal Neoplasms, Hereditary Nonpolyposis*/genetics
Colorectal Neoplasms, Hereditary Nonpolyposis*/pathology
Humans ; DNA Mismatch Repair/genetics ; Bacteroides fragilis/genetics ; Bacteroides fragilis/metabolism ; Iran ; MutS Homolog 2 Protein/genetics ; MutS Homolog 2 Protein/metabolism ; Microsatellite Instability ; DNA-Binding Proteins/genetics ; MutL Protein Homolog 1/genetics ; MutL Protein Homolog 1/metabolism ; Biopsy
Czasopismo naukowe
Tytuł:
Epigenetic MLH1 silencing concurs with mismatch repair deficiency in sporadic, naturally occurring colorectal cancer in rhesus macaques.
Autorzy:
Deycmar S; Department of Pathology, Wake Forest University School of Medicine, Winston-Salem, NC, USA.; Roche Postdoctoral Fellowship (RPF) Program, Basel, Switzerland.
Johnson BJ; Department of Pathology, Wake Forest University School of Medicine, Winston-Salem, NC, USA.
Ray K; Oregon National Primate Research Center, Oregon Health and Science University, Beaverton, OR, USA.
Schaaf GW; Department of Pathology, Wake Forest University School of Medicine, Winston-Salem, NC, USA.
Ryan DP; School of Veterinary Medicine, University of California Davis, Davis, CA, USA.
Cullin C; Oregon National Primate Research Center, Oregon Health and Science University, Beaverton, OR, USA.
Dozier BL; Oregon National Primate Research Center, Oregon Health and Science University, Beaverton, OR, USA.
Ferguson B; Oregon National Primate Research Center, Oregon Health and Science University, Beaverton, OR, USA.
Bimber BN; Oregon National Primate Research Center, Oregon Health and Science University, Beaverton, OR, USA.
Olson JD; Department of Pathology, Wake Forest University School of Medicine, Winston-Salem, NC, USA.
Caudell DL; Department of Pathology, Wake Forest University School of Medicine, Winston-Salem, NC, USA.
Whitlow CT; Department of Radiology, Wake Forest University School of Medicine, Winston-Salem, NC, USA.
Solingapuram Sai KK; Department of Radiology, Wake Forest University School of Medicine, Winston-Salem, NC, USA.
Romero EC; New Iberia Research Center, University of Louisiana-Lafayette, New Iberia, LA, USA.
Villinger FJ; New Iberia Research Center, University of Louisiana-Lafayette, New Iberia, LA, USA.
Burgos AG; Caribbean Primate Research Center, University of Puerto Rico, Toa Baja, PR, USA.
Ainsworth HC; Department of Biostatistics and Data Sciences, Wake Forest University School of Medicine, Winston-Salem, NC, USA.
Miller LD; Department of Cancer Biology, Wake Forest University School of Medicine, Winston-Salem, NC, USA.; Center for Cancer Genomics and Precision Oncology, Wake Forest University School of Medicine, Winston-Salem, NC, USA.
Hawkins GA; Center for Cancer Genomics and Precision Oncology, Wake Forest University School of Medicine, Winston-Salem, NC, USA.; Department of Biochemistry, Wake Forest University School of Medicine, Winston-Salem, NC, USA.
Chou JW; Center for Cancer Genomics and Precision Oncology, Wake Forest University School of Medicine, Winston-Salem, NC, USA.
Gomes B; Roche Pharma Research and Early Development, Roche Innovation Center Basel, Basel, Switzerland.
Hettich M; Roche Pharma Research and Early Development, Roche Innovation Center Basel, Basel, Switzerland.
Ceppi M; Roche Pharma Research and Early Development, Roche Innovation Center Basel, Basel, Switzerland.; iTeos Therapeutics, Translational Medicine, Gosselies, Belgium.
Charo J; Roche Pharma Research and Early Development, Roche Innovation Center Zurich, Zurich, Switzerland.
Cline JM; Department of Pathology, Wake Forest University School of Medicine, Winston-Salem, NC, USA. .
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Źródło:
Journal of translational medicine [J Transl Med] 2024 Mar 19; Vol. 22 (1), pp. 292. Date of Electronic Publication: 2024 Mar 19.
Typ publikacji:
Journal Article
MeSH Terms:
Microsatellite Instability*
Colorectal Neoplasms*/pathology
Brain Neoplasms*
Neoplastic Syndromes, Hereditary*
Humans ; Animals ; Macaca mulatta/genetics ; Macaca mulatta/metabolism ; MutL Protein Homolog 1/genetics ; Mismatch Repair Endonuclease PMS2/genetics ; Mismatch Repair Endonuclease PMS2/metabolism ; DNA Methylation/genetics ; Epigenesis, Genetic ; Transcription Factors/genetics ; Transcription Factors/metabolism ; DNA/metabolism ; DNA Mismatch Repair/genetics
SCR Disease Name:
Turcot syndrome
Czasopismo naukowe
Tytuł:
Rare germline mutation and MSH2-&MSH6 + expression in a double primary carcinoma of colorectal carcinoma and endometrial carcinoma: a case report.
Autorzy:
Zhang T; Department of Obstetrics and Gynecology, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou Guangdong, 510623, China.
Huang X; Guangzhou KingMed Center for Clinical Laboratory Co. Ltd, Guangzhou, China. .
Liu W; Department of Obstetrics and Gynecology, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou Guangdong, 510623, China.
Ling X; Meizhou Maternal and Child Health Care Hospital, Meizhou, 514000, Guangdong, China.
Su Z; Shenzhen KingMed Medical Laboratory, Shenzhen, China.
Huang M; Meizhou Maternal and Child Health Care Hospital, Meizhou, 514000, Guangdong, China.
Che S; Guangzhou KingMed Center for Clinical Laboratory Co. Ltd, Guangzhou, China. .
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Źródło:
Diagnostic pathology [Diagn Pathol] 2024 Jan 31; Vol. 19 (1), pp. 25. Date of Electronic Publication: 2024 Jan 31.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Brain Neoplasms*
Colorectal Neoplasms*/genetics
Colorectal Neoplasms, Hereditary Nonpolyposis*/diagnosis
Colorectal Neoplasms, Hereditary Nonpolyposis*/genetics
Endometrial Neoplasms*/genetics
Endometrial Neoplasms*/pathology
Neoplastic Syndromes, Hereditary*
Female ; Humans ; Middle Aged ; DNA Mismatch Repair ; Germ-Line Mutation ; Mismatch Repair Endonuclease PMS2/genetics ; MutL Protein Homolog 1/genetics ; MutS Homolog 2 Protein/genetics
SCR Disease Name:
Turcot syndrome
Czasopismo naukowe
Tytuł:
Identifying primary and secondary MLH1 epimutation carriers displaying low-level constitutional MLH1 methylation using droplet digital PCR and genome-wide DNA methylation profiling of colorectal cancers.
Autorzy:
Joo JE; Colorectal Oncogenomics Group, Department of Clinical Pathology, Victorian Comprehensive Cancer Centre, The University of Melbourne, 305 Grattan Street, Parkville, VIC, 3000, Australia. .; Victorian Comprehensive Cancer Centre, University of Melbourne Centre for Cancer Research, Parkville, VIC, Australia. .
Mahmood K; Colorectal Oncogenomics Group, Department of Clinical Pathology, Victorian Comprehensive Cancer Centre, The University of Melbourne, 305 Grattan Street, Parkville, VIC, 3000, Australia.; Victorian Comprehensive Cancer Centre, University of Melbourne Centre for Cancer Research, Parkville, VIC, Australia.; Melbourne Bioinformatics, The University of Melbourne, Melbourne, VIC, Australia.
Walker R; Colorectal Oncogenomics Group, Department of Clinical Pathology, Victorian Comprehensive Cancer Centre, The University of Melbourne, 305 Grattan Street, Parkville, VIC, 3000, Australia.; Victorian Comprehensive Cancer Centre, University of Melbourne Centre for Cancer Research, Parkville, VIC, Australia.
Georgeson P; Colorectal Oncogenomics Group, Department of Clinical Pathology, Victorian Comprehensive Cancer Centre, The University of Melbourne, 305 Grattan Street, Parkville, VIC, 3000, Australia.; Victorian Comprehensive Cancer Centre, University of Melbourne Centre for Cancer Research, Parkville, VIC, Australia.
Candiloro I; Beacon Biomarkers Lab, Department of Surgery, Austin Health, University of Melbourne, Heidelberg, VIC, Australia.
Clendenning M; Colorectal Oncogenomics Group, Department of Clinical Pathology, Victorian Comprehensive Cancer Centre, The University of Melbourne, 305 Grattan Street, Parkville, VIC, 3000, Australia.; Victorian Comprehensive Cancer Centre, University of Melbourne Centre for Cancer Research, Parkville, VIC, Australia.
Como J; Colorectal Oncogenomics Group, Department of Clinical Pathology, Victorian Comprehensive Cancer Centre, The University of Melbourne, 305 Grattan Street, Parkville, VIC, 3000, Australia.; Victorian Comprehensive Cancer Centre, University of Melbourne Centre for Cancer Research, Parkville, VIC, Australia.
Joseland S; Colorectal Oncogenomics Group, Department of Clinical Pathology, Victorian Comprehensive Cancer Centre, The University of Melbourne, 305 Grattan Street, Parkville, VIC, 3000, Australia.; Victorian Comprehensive Cancer Centre, University of Melbourne Centre for Cancer Research, Parkville, VIC, Australia.
Preston S; Colorectal Oncogenomics Group, Department of Clinical Pathology, Victorian Comprehensive Cancer Centre, The University of Melbourne, 305 Grattan Street, Parkville, VIC, 3000, Australia.; Victorian Comprehensive Cancer Centre, University of Melbourne Centre for Cancer Research, Parkville, VIC, Australia.
Graversen L; Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark.
Wilding M; Department of Clinical Genetics, Royal North Shore Hospital, Sydney, NSW, Australia.
Field M; Department of Clinical Genetics, Royal North Shore Hospital, Sydney, NSW, Australia.
Lemon M; Genetic Health Queensland, Royal Brisbane and Women's Hospital, Herston, QLD, Australia.
Wakeling J; Genetic Health Queensland, Royal Brisbane and Women's Hospital, Herston, QLD, Australia.; Tasman Health Care, Southport, QLD, Australia.
Marfan H; Genetic Health Queensland, Royal Brisbane and Women's Hospital, Herston, QLD, Australia.
Susman R; Genetic Health Queensland, Royal Brisbane and Women's Hospital, Herston, QLD, Australia.
Isbister J; Genomic Medicine and Family Cancer Clinic, Royal Melbourne Hospital, Parkville, Melbourne, VIC, Australia.
Edwards E; Familial Cancer Service, Crown Princess Mary Cancer Centre, Westmead Hospital, Sydney, NSW, 2145, Australia.
Bowman M; Familial Cancer Service, Crown Princess Mary Cancer Centre, Westmead Hospital, Sydney, NSW, 2145, Australia.
Kirk J; Familial Cancer Service, Crown Princess Mary Cancer Centre, Westmead Hospital, Sydney, NSW, 2145, Australia.
Ip E; Department of Cancer Genetics, Liverpool Hospital, Liverpool, NSW, Australia.
McKay L; The Cabrini Family Cancer Clinic, Cabrini Health, Malvern, VIC, Australia.
Antill Y; Genomic Medicine and Family Cancer Clinic, Royal Melbourne Hospital, Parkville, Melbourne, VIC, Australia.; The Cabrini Family Cancer Clinic, Cabrini Health, Malvern, VIC, Australia.
Hopper JL; Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne, Carlton, VIC, Australia.
Boussioutas A; Department of Gastroenterology, The Alfred Hospital, Melbourne, Parkville, VIC, 3010, Australia.; Central Clinical School, Monash University, Melbourne, VIC, 3004, Australia.
Macrae FA; Genomic Medicine and Family Cancer Clinic, Royal Melbourne Hospital, Parkville, Melbourne, VIC, Australia.; Colorectal Medicine and Genetics, The Royal Melbourne Hospital, Parkville, VIC, Australia.; Department of Medicine, The University of Melbourne, Parkville, Australia.
Dobrovic A; Beacon Biomarkers Lab, Department of Surgery, Austin Health, University of Melbourne, Heidelberg, VIC, Australia.
Jenkins MA; Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne, Carlton, VIC, Australia.
Rosty C; Colorectal Oncogenomics Group, Department of Clinical Pathology, Victorian Comprehensive Cancer Centre, The University of Melbourne, 305 Grattan Street, Parkville, VIC, 3000, Australia.; Victorian Comprehensive Cancer Centre, University of Melbourne Centre for Cancer Research, Parkville, VIC, Australia.; Envoi Specialist Pathologists, Brisbane, Australia.; University of Queensland, Brisbane, Australia.
Winship IM; Genomic Medicine and Family Cancer Clinic, Royal Melbourne Hospital, Parkville, Melbourne, VIC, Australia.; Department of Medicine, The University of Melbourne, Parkville, Australia.
Buchanan DD; Colorectal Oncogenomics Group, Department of Clinical Pathology, Victorian Comprehensive Cancer Centre, The University of Melbourne, 305 Grattan Street, Parkville, VIC, 3000, Australia.; Victorian Comprehensive Cancer Centre, University of Melbourne Centre for Cancer Research, Parkville, VIC, Australia.; Genomic Medicine and Family Cancer Clinic, Royal Melbourne Hospital, Parkville, Melbourne, VIC, Australia.
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Źródło:
Clinical epigenetics [Clin Epigenetics] 2023 Jun 03; Vol. 15 (1), pp. 95. Date of Electronic Publication: 2023 Jun 03.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural
MeSH Terms:
Colorectal Neoplasms, Hereditary Nonpolyposis*/diagnosis
Colorectal Neoplasms, Hereditary Nonpolyposis*/genetics
Colorectal Neoplasms*/genetics
Humans ; DNA Methylation ; Promoter Regions, Genetic ; Polymerase Chain Reaction ; DNA ; MutL Protein Homolog 1/genetics
Czasopismo naukowe
Tytuł:
A tumor focused approach to resolving the etiology of DNA mismatch repair deficient tumors classified as suspected Lynch syndrome.
Autorzy:
Walker R; Colorectal Oncogenomics Group, Department of Clinical Pathology, Victorian Comprehensive Cancer Centre, The University of Melbourne, 305 Grattan Street, Parkville, VIC, 3010, Australia.; Victorian Comprehensive Cancer Centre, University of Melbourne Centre for Cancer Research, Parkville, VIC, 3010, Australia.
Mahmood K; Colorectal Oncogenomics Group, Department of Clinical Pathology, Victorian Comprehensive Cancer Centre, The University of Melbourne, 305 Grattan Street, Parkville, VIC, 3010, Australia.; Victorian Comprehensive Cancer Centre, University of Melbourne Centre for Cancer Research, Parkville, VIC, 3010, Australia.; Melbourne Bioinformatics, The University of Melbourne, Melbourne, VIC, 3051, Australia.
Joo JE; Colorectal Oncogenomics Group, Department of Clinical Pathology, Victorian Comprehensive Cancer Centre, The University of Melbourne, 305 Grattan Street, Parkville, VIC, 3010, Australia.; Victorian Comprehensive Cancer Centre, University of Melbourne Centre for Cancer Research, Parkville, VIC, 3010, Australia.
Clendenning M; Colorectal Oncogenomics Group, Department of Clinical Pathology, Victorian Comprehensive Cancer Centre, The University of Melbourne, 305 Grattan Street, Parkville, VIC, 3010, Australia.; Victorian Comprehensive Cancer Centre, University of Melbourne Centre for Cancer Research, Parkville, VIC, 3010, Australia.
Georgeson P; Colorectal Oncogenomics Group, Department of Clinical Pathology, Victorian Comprehensive Cancer Centre, The University of Melbourne, 305 Grattan Street, Parkville, VIC, 3010, Australia.; Victorian Comprehensive Cancer Centre, University of Melbourne Centre for Cancer Research, Parkville, VIC, 3010, Australia.
Como J; Colorectal Oncogenomics Group, Department of Clinical Pathology, Victorian Comprehensive Cancer Centre, The University of Melbourne, 305 Grattan Street, Parkville, VIC, 3010, Australia.; Victorian Comprehensive Cancer Centre, University of Melbourne Centre for Cancer Research, Parkville, VIC, 3010, Australia.
Joseland S; Colorectal Oncogenomics Group, Department of Clinical Pathology, Victorian Comprehensive Cancer Centre, The University of Melbourne, 305 Grattan Street, Parkville, VIC, 3010, Australia.; Victorian Comprehensive Cancer Centre, University of Melbourne Centre for Cancer Research, Parkville, VIC, 3010, Australia.
Preston SG; Colorectal Oncogenomics Group, Department of Clinical Pathology, Victorian Comprehensive Cancer Centre, The University of Melbourne, 305 Grattan Street, Parkville, VIC, 3010, Australia.; Victorian Comprehensive Cancer Centre, University of Melbourne Centre for Cancer Research, Parkville, VIC, 3010, Australia.
Antill Y; Familial Cancer Centre, Royal Melbourne Hospital, Parkville, VIC, 3050, Australia.; Familial Cancer Centre, Cabrini Health, Malvern, VIC, 3144, Australia.; Familial Cancer Centre, Monash Health, Clayton, VIC, 3168, Australia.; Faculty of Medicine, Dentistry and Health Sciences, Monash University, Melbourne, VIC, 3800, Australia.
Austin R; Genetic Health Queensland, Royal Brisbane and Women's Hospital, Brisbane, QLD, 4029, Australia.
Boussioutas A; Central Clinical School, Monash University, Melbourne, VIC, 3004, Australia.; Department of Gastroenterology, The Alfred Hospital, Melbourne, VIC, 3004, Australia.; Department of Medicine, The Royal Melbourne Hospital, Melbourne, VIC, 3010, Australia.; Familial Cancer Centre, Peter MacCallum Cancer Centre, Parkville, VIC, 3000, Australia.
Bowman M; Familial Cancer Service, Westmead Hospital, Sydney, NSW, 2145, Australia.
Burke J; Tasmanian Clinical Genetics Service, Royal Hobart Hospital, Hobart, TAS, 7000, Australia.; School of Medicine, University of Tasmania, Sandy Bay, TAS, 7005, Australia.
Campbell A; Clinical Genetics Unit, Austin Health, Melbourne, VIC, 3084, Australia.
Daneshvar S; Colorectal Oncogenomics Group, Department of Clinical Pathology, Victorian Comprehensive Cancer Centre, The University of Melbourne, 305 Grattan Street, Parkville, VIC, 3010, Australia.; Victorian Comprehensive Cancer Centre, University of Melbourne Centre for Cancer Research, Parkville, VIC, 3010, Australia.
Edwards E; Familial Cancer Service, Westmead Hospital, Sydney, NSW, 2145, Australia.
Gleeson M; Hunter Family Cancer Service, Newcastle, NSW, 2298, Australia.
Goodwin A; Cancer Genetics Department, Royal Prince Alfred Hospital, Camperdown, NSW, 2050, Australia.; University of Sydney, Sydney, NSW, 2050, Australia.
Harris MT; Monash Health Familial Cancer Centre, Clayton, VIC, 3168, Australia.
Henderson A; Genetic Health Service, Wellington, Greater Wellington, 6242, New Zealand.; Wellington Hospital, Newtown, Greater Wellington, 6021, New Zealand.
Higgins M; Genetic Health Queensland, Royal Brisbane and Women's Hospital, Brisbane, QLD, 4029, Australia.; University of Queensland, St Lucia, QLD, 4067, Australia.
Hopper JL; Centre for Epidemiology and Biostatistics, The University of Melbourne, Melbourne, VIC, 3010, Australia.
Hutchinson RA; Colorectal Oncogenomics Group, Department of Clinical Pathology, Victorian Comprehensive Cancer Centre, The University of Melbourne, 305 Grattan Street, Parkville, VIC, 3010, Australia.; Victorian Comprehensive Cancer Centre, University of Melbourne Centre for Cancer Research, Parkville, VIC, 3010, Australia.
Ip E; Cancer Genetics Service, Liverpool Hospital, Liverpool, NSW, 2170, Australia.
Isbister J; Genomic Medicine and Familial Cancer Centre, Royal Melbourne Hospital, Parkville, VIC, 3000, Australia.; Department of Medicine, The University of Melbourne, Melbourne, VIC, 3000, Australia.; Parkville Familial Cancer Centre, Peter McCallum Cancer Centre, Melbourne, VIC, 3000, Australia.
Kasem K; Department of Clinical Pathology, Medicine Dentistry and Health Sciences, The University of Melbourne, Parkville, VIC, Australia.
Marfan H; Genetic Health Queensland, Royal Brisbane and Women's Hospital, Brisbane, QLD, 4029, Australia.
Milnes D; Genetic Health Queensland, Royal Brisbane and Women's Hospital, Brisbane, QLD, 4029, Australia.; Royal Brisbane and Women's Hospital, Herston, QLD, 4029, Australia.
Ng A; Cancer Genetics Department, Royal Prince Alfred Hospital, Camperdown, NSW, 2050, Australia.
Nichols C; Genetic Services of Western Australia, King Edward Memorial Hospital, Perth, WA, 6008, Australia.
O'Connell S; Monash Health Familial Cancer Centre, Clayton, VIC, 3168, Australia.
Pachter N; Genetic Services of Western Australia, King Edward Memorial Hospital, Perth, WA, 6008, Australia.; Medical School, University of Western Australia, Perth, WA, 6009, Australia.; School of Medicine, Curtin University, Perth, WA, 6845, Australia.
Pope BJ; Colorectal Oncogenomics Group, Department of Clinical Pathology, Victorian Comprehensive Cancer Centre, The University of Melbourne, 305 Grattan Street, Parkville, VIC, 3010, Australia.; Melbourne Bioinformatics, The University of Melbourne, Melbourne, VIC, 3051, Australia.
Poplawski N; Adult Genetics Unit, Royal Adelaide Hospital, Adelaide, SA, 5000, Australia.; Adelaide Medical School, Faculty of Health and Medical Sciences, University of Adelaide, Adelaide, SA, 5000, Australia.
Ragunathan A; Familial Cancer Service, Westmead Hospital, Sydney, NSW, 2145, Australia.
Smyth C; Familial Cancer Centre, Monash Health, Clayton, VIC, 3168, Australia.
Spigelman A; Hunter Family Cancer Service, Newcastle, NSW, 2298, Australia.; St Vincent's Cancer Genetics Unit, Sydney, NSW, 2290, Australia.; Surgical Professorial Unit, UNSW Clinical School of Clinical Medicine, Sydney, NSW, 2052, Australia.
Storey K; Parkville Familial Cancer Centre, Peter McCallum Cancer Centre, Melbourne, VIC, 3000, Australia.
Susman R; Genetic Health Queensland, Royal Brisbane and Women's Hospital, Brisbane, QLD, 4029, Australia.
Taylor JA; Genomic Medicine and Familial Cancer Centre, Royal Melbourne Hospital, Parkville, VIC, 3000, Australia.
Warwick L; ACT Genetic Service, The Canberra Hospital, Woden, ACT, 2606, Australia.
Wilding M; Familial Cancer Service, Royal North Shore Hospital, St Leonards, NSW, 2065, Australia.
Williams R; Prince of Wales Clinical School, UNSW Medicine and Health, UNSW Sydney, Kensington, NSW, 2052, Australia.; Prince of Wales Hereditary Cancer Centre, Prince of Wales Hospital, Randwick, NSW, 2031, Australia.
Win AK; Victorian Comprehensive Cancer Centre, University of Melbourne Centre for Cancer Research, Parkville, VIC, 3010, Australia.; Centre for Epidemiology and Biostatistics, The University of Melbourne, Melbourne, VIC, 3010, Australia.; Genomic Medicine and Familial Cancer Centre, Royal Melbourne Hospital, Parkville, VIC, 3000, Australia.
Walsh MD; Sullivan Nicolaides Pathology, Bowen Hills, QLD, 4006, Australia.; School of Biomedical Sciences, Queensland University of Technology, Brisbane, QLD, 4072, Australia.
Macrae FA; Genomic Medicine and Familial Cancer Centre, Royal Melbourne Hospital, Parkville, VIC, 3000, Australia.; Colorectal Medicine and Genetics, The Royal Melbourne Hospital, Parkville, VIC, Australia.
Jenkins MA; Victorian Comprehensive Cancer Centre, University of Melbourne Centre for Cancer Research, Parkville, VIC, 3010, Australia.; Centre for Epidemiology and Biostatistics, The University of Melbourne, Melbourne, VIC, 3010, Australia.
Rosty C; Colorectal Oncogenomics Group, Department of Clinical Pathology, Victorian Comprehensive Cancer Centre, The University of Melbourne, 305 Grattan Street, Parkville, VIC, 3010, Australia.; Victorian Comprehensive Cancer Centre, University of Melbourne Centre for Cancer Research, Parkville, VIC, 3010, Australia.; Envoi Specialist Pathologists, Brisbane, QLD, 4059, Australia.; University of Queensland, Brisbane, QLD, 4072, Australia.
Winship IM; Genomic Medicine and Familial Cancer Centre, Royal Melbourne Hospital, Parkville, VIC, 3000, Australia.; Department of Medicine, The University of Melbourne, Melbourne, VIC, 3000, Australia.
Buchanan DD; Colorectal Oncogenomics Group, Department of Clinical Pathology, Victorian Comprehensive Cancer Centre, The University of Melbourne, 305 Grattan Street, Parkville, VIC, 3010, Australia. .; Victorian Comprehensive Cancer Centre, University of Melbourne Centre for Cancer Research, Parkville, VIC, 3010, Australia. .; Genomic Medicine and Familial Cancer Centre, Royal Melbourne Hospital, Parkville, VIC, 3000, Australia. .
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Corporate Authors:
Family Cancer Clinics of Australia
Źródło:
Journal of translational medicine [J Transl Med] 2023 Apr 26; Vol. 21 (1), pp. 282. Date of Electronic Publication: 2023 Apr 26.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural
MeSH Terms:
Colorectal Neoplasms, Hereditary Nonpolyposis*/genetics
Colorectal Neoplasms, Hereditary Nonpolyposis*/pathology
Colorectal Neoplasms*/genetics
Neoplastic Syndromes, Hereditary*/genetics
Humans ; DNA Mismatch Repair/genetics ; MutL Protein Homolog 1/genetics ; DNA Methylation/genetics ; Microsatellite Instability
SCR Disease Name:
Turcot syndrome
Czasopismo naukowe
Tytuł:
High concordance rate of capillary electrophoresis workflow for microsatellite instability analysis and mismatch repair (MMR) immunostaining in colorectal carcinoma.
Autorzy:
Huang W; Department of Pathology, Molecular Diagnosis Laboratory, National Cheng Kung University Hospital, Tainan, Taiwan.; Molecular Medicine Core Laboratory, Research Center of Clinical Medicine, National Cheng Kung University Hospital, Tainan, Taiwan.; Department of Medical Laboratory Science and Biotechnology, College of Medicine, National Cheng Kung University, Tainan, Taiwan.
Ho CL; Department of Pathology, Molecular Diagnosis Laboratory, National Cheng Kung University Hospital, Tainan, Taiwan.; Molecular Medicine Core Laboratory, Research Center of Clinical Medicine, National Cheng Kung University Hospital, Tainan, Taiwan.; Institute of Molecular Medicine, College of Medicine, National Cheng Kung University, Tainan, Taiwan.
Lee CT; Department of Pathology, Molecular Diagnosis Laboratory, National Cheng Kung University Hospital, Tainan, Taiwan.; Molecular Medicine Core Laboratory, Research Center of Clinical Medicine, National Cheng Kung University Hospital, Tainan, Taiwan.; Institute of Molecular Medicine, College of Medicine, National Cheng Kung University, Tainan, Taiwan.
Chen WL; Department of Pathology, Molecular Diagnosis Laboratory, National Cheng Kung University Hospital, Tainan, Taiwan.; Molecular Medicine Core Laboratory, Research Center of Clinical Medicine, National Cheng Kung University Hospital, Tainan, Taiwan.
Yang SC; Department of Pathology, Molecular Diagnosis Laboratory, National Cheng Kung University Hospital, Tainan, Taiwan.; Molecular Medicine Core Laboratory, Research Center of Clinical Medicine, National Cheng Kung University Hospital, Tainan, Taiwan.
Chow NH; Department of Pathology, Molecular Diagnosis Laboratory, National Cheng Kung University Hospital, Tainan, Taiwan.; Molecular Medicine Core Laboratory, Research Center of Clinical Medicine, National Cheng Kung University Hospital, Tainan, Taiwan.; Institute of Molecular Medicine, College of Medicine, National Cheng Kung University, Tainan, Taiwan.
Chen YL; Department of Pathology, Molecular Diagnosis Laboratory, National Cheng Kung University Hospital, Tainan, Taiwan.; Molecular Medicine Core Laboratory, Research Center of Clinical Medicine, National Cheng Kung University Hospital, Tainan, Taiwan.; Department of Medical Laboratory Science and Biotechnology, College of Medicine, National Cheng Kung University, Tainan, Taiwan.
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Źródło:
PloS one [PLoS One] 2023 Apr 25; Vol. 18 (4), pp. e0284227. Date of Electronic Publication: 2023 Apr 25 (Print Publication: 2023).
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Microsatellite Instability*
Colorectal Neoplasms*/diagnosis
Colorectal Neoplasms*/genetics
Colorectal Neoplasms*/pathology
Humans ; DNA Mismatch Repair/genetics ; Workflow ; Microsatellite Repeats/genetics ; DNA-Binding Proteins/genetics ; Electrophoresis, Capillary ; MutL Protein Homolog 1/genetics
Czasopismo naukowe
Tytuł:
Germline Variants in MLH1 and ATM Genes in a Young Patient with MSI-H in a Precancerous Colonic Lesion.
Autorzy:
Nolano A; Department of Molecular Medicine and Medical Biotechnologies and CEINGE Advanced Biotechnologies Scarl, 'Francesco Salvatore' Napoli, University of Naples Federico II, 80131 Naples, Italy.
Rossi GB; Endoscopy Unit, Istituto Nazionale Tumori-IRCCS-Fondazione G. Pascale, Via Mariano Semola, 80131 Naples, Italy.
D'Angelo V; Endoscopy Unit, Istituto Nazionale Tumori-IRCCS-Fondazione G. Pascale, Via Mariano Semola, 80131 Naples, Italy.
Liccardo R; Department of Molecular Medicine and Medical Biotechnologies and CEINGE Advanced Biotechnologies Scarl, 'Francesco Salvatore' Napoli, University of Naples Federico II, 80131 Naples, Italy.
Rosa M; Department of Molecular Medicine and Medical Biotechnologies and CEINGE Advanced Biotechnologies Scarl, 'Francesco Salvatore' Napoli, University of Naples Federico II, 80131 Naples, Italy.
Izzo P; Department of Molecular Medicine and Medical Biotechnologies and CEINGE Advanced Biotechnologies Scarl, 'Francesco Salvatore' Napoli, University of Naples Federico II, 80131 Naples, Italy.
Duraturo F; Department of Molecular Medicine and Medical Biotechnologies and CEINGE Advanced Biotechnologies Scarl, 'Francesco Salvatore' Napoli, University of Naples Federico II, 80131 Naples, Italy.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2023 Mar 22; Vol. 24 (6). Date of Electronic Publication: 2023 Mar 22.
Typ publikacji:
Case Reports
MeSH Terms:
Endometrial Neoplasms*/genetics
Precancerous Conditions*
Colorectal Neoplasms*
Humans ; Female ; Germ-Line Mutation ; Germ Cells ; DNA Mismatch Repair ; Microsatellite Instability ; MutL Protein Homolog 1/genetics ; Ataxia Telangiectasia Mutated Proteins/genetics
Raport
Tytuł:
Genomic landscape of pathogenic mutation of APC, KRAS, TP53, PIK3CA, and MLH1 in Indonesian colorectal cancer.
Autorzy:
Marbun VMG; Department of General Surgery, Digestive Division, Faculty of Medicine Universitas Indonesia, Jakarta, Indonesia.
Erlina L; Department of Medical Chemistry, Faculty of Medicine Universitas Indonesia, Jakarta, Indonesia.
Lalisang TJM; Department of General Surgery, Digestive Division, Faculty of Medicine Universitas Indonesia, Jakarta, Indonesia.
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Źródło:
PloS one [PLoS One] 2022 Jun 16; Vol. 17 (6), pp. e0267090. Date of Electronic Publication: 2022 Jun 16 (Print Publication: 2022).
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Colorectal Neoplasms*/pathology
Proto-Oncogene Proteins p21(ras)*/genetics
Class I Phosphatidylinositol 3-Kinases/genetics ; Genomics ; Humans ; Indonesia ; MutL Protein Homolog 1/genetics ; Mutation ; Tumor Suppressor Protein p53/genetics
Czasopismo naukowe
Tytuł:
Histopathological and genetic features of mismatch repair-deficient high-grade prostate cancer.
Autorzy:
Wyvekens N; Department of Pathology, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA.
Tsai HK; Department of Pathology, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA.
Sholl LM; Department of Pathology, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA.
Tucci J; Department of Pathology, Microbiology and Immunology, Vanderbilt University Medical Center, Nashville, TN, USA.
Giannico GA; Department of Pathology, Microbiology and Immunology, Vanderbilt University Medical Center, Nashville, TN, USA.
Gordetsky JB; Department of Pathology, Microbiology and Immunology, Vanderbilt University Medical Center, Nashville, TN, USA.
Hirsch MS; Department of Pathology, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA.
Barletta JA; Department of Pathology, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA.
Acosta AM; Department of Pathology, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA.
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Źródło:
Histopathology [Histopathology] 2022 Jun; Vol. 80 (7), pp. 1050-1060. Date of Electronic Publication: 2022 Apr 20.
Typ publikacji:
Journal Article
MeSH Terms:
Colorectal Neoplasms*/genetics
Colorectal Neoplasms*/pathology
Prostatic Neoplasms*/genetics
Prostatic Neoplasms*/pathology
Brain Neoplasms ; DNA Mismatch Repair/genetics ; Humans ; Male ; Microsatellite Instability ; Mismatch Repair Endonuclease PMS2/genetics ; Mismatch Repair Endonuclease PMS2/metabolism ; MutL Protein Homolog 1/genetics ; MutS Homolog 2 Protein/genetics ; Neoplasm Recurrence, Local ; Neoplastic Syndromes, Hereditary
SCR Disease Name:
Turcot syndrome
Czasopismo naukowe
Tytuł:
Comparative molecular genomic analyses of a spontaneous rhesus macaque model of mismatch repair-deficient colorectal cancer.
Autorzy:
Ozirmak Lermi N; Department of Clinical Cancer Prevention, The University of Texas MD Anderson Cancer Center, Houston, Texas, United States of America.; School of Health Professions, The University of Texas MD Anderson Cancer Center, Houston, Texas, United States of America.
Gray SB; Michale E. Keeling Center for Comparative Medicine and Research, The University of Texas MD Anderson Cancer Center, Houston, Texas, United States of America.
Bowen CM; Department of Clinical Cancer Prevention, The University of Texas MD Anderson Cancer Center, Houston, Texas, United States of America.
Reyes-Uribe L; Department of Clinical Cancer Prevention, The University of Texas MD Anderson Cancer Center, Houston, Texas, United States of America.
Dray BK; Charles River Laboratories, Ashland, Ohio, United States of America.
Deng N; Department of Clinical Cancer Prevention, The University of Texas MD Anderson Cancer Center, Houston, Texas, United States of America.
Harris RA; Human Genome Sequencing Center and Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America.
Raveendran M; Human Genome Sequencing Center and Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America.
Benavides F; Department of Epigenetics and Molecular Carcinogenesis, The University of Texas MD Anderson Cancer Center, Houston, Texas, United States of America.
Hodo CL; Michale E. Keeling Center for Comparative Medicine and Research, The University of Texas MD Anderson Cancer Center, Houston, Texas, United States of America.
Taggart MW; Department of Pathology, The University of Texas MD Anderson Cancer Center, Houston, Texas, United States of America.
Colbert Maresso K; Department of Clinical Cancer Prevention, The University of Texas MD Anderson Cancer Center, Houston, Texas, United States of America.
Sinha KM; Department of Clinical Cancer Prevention, The University of Texas MD Anderson Cancer Center, Houston, Texas, United States of America.
Rogers J; Human Genome Sequencing Center and Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America.
Vilar E; Department of Clinical Cancer Prevention, The University of Texas MD Anderson Cancer Center, Houston, Texas, United States of America.; Clinical Cancer Genetics Program, The University of Texas MD Anderson Cancer Center, Houston, Texas, United States of America.
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Źródło:
PLoS genetics [PLoS Genet] 2022 Apr 21; Vol. 18 (4), pp. e1010163. Date of Electronic Publication: 2022 Apr 21 (Print Publication: 2022).
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms:
Colonic Neoplasms*/genetics
Colorectal Neoplasms*/genetics
Colorectal Neoplasms*/pathology
Colorectal Neoplasms, Hereditary Nonpolyposis*/genetics
Colorectal Neoplasms, Hereditary Nonpolyposis*/pathology
Animals ; DNA Methylation/genetics ; DNA Mismatch Repair/genetics ; Genomics ; Humans ; Macaca mulatta/genetics ; Mice ; Microsatellite Instability ; MutL Protein Homolog 1/genetics
Czasopismo naukowe
Tytuł:
Microsatellite instability in colon cancer: A single center experience from North India.
Autorzy:
Arora S; Department of Radiotherapy, Maulana Azad Medical College, Lok Nayak Hospital, New Delhi, India.
Adhikari N; Department of Radiotherapy, Maulana Azad Medical College, Lok Nayak Hospital, New Delhi, India.
Rathi AK; Department of Radiotherapy, Maulana Azad Medical College, Lok Nayak Hospital, New Delhi, India.
Singh K; Department of Radiotherapy, Maulana Azad Medical College, Lok Nayak Hospital, New Delhi, India.
Sakhuja P; Department of Pathology, Maulana Azad Medical College, GB Pant Hospital, New Delhi, India.
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Źródło:
Journal of cancer research and therapeutics [J Cancer Res Ther] 2022 Apr-Jun; Vol. 18 (3), pp. 656-660.
Typ publikacji:
Journal Article
MeSH Terms:
Colonic Neoplasms*/drug therapy
Colonic Neoplasms*/genetics
Colorectal Neoplasms*/pathology
Adult ; Aged ; DNA Mismatch Repair/genetics ; Female ; Humans ; Male ; Microsatellite Instability ; Middle Aged ; MutL Protein Homolog 1/genetics ; MutS Homolog 2 Protein/genetics ; Retrospective Studies
Czasopismo naukowe
Tytuł:
Methylation of FBN1, SPG20, ITF2, RUNX3, SNCA, MLH1, and SEPT9 genes in circulating cell-free DNA as biomarkers of colorectal cancer.
Autorzy:
Alizadeh-Sedigh M; Molecular Medicine Department, Biotechnology Research Center, Pasteur Institute of Iran, Tehran, Iran.
Fazeli MS; Department of Surgery, Division of Colorectal Surgery, Imam Khomeini Medical Complex, Tehran University of Medical Sciences, Tehran, Iran.
Mahmoodzadeh H; Cancer Institute of Iran, Imam Khomeini Medical Complex, Tehran University of Medical Sciences, Tehran, Iran.
Sharif SB; Molecular Medicine Department, Biotechnology Research Center, Pasteur Institute of Iran, Tehran, Iran.
Teimoori-Toolabi L; Molecular Medicine Department, Biotechnology Research Center, Pasteur Institute of Iran, Tehran, Iran.
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Źródło:
Cancer biomarkers : section A of Disease markers [Cancer Biomark] 2022; Vol. 34 (2), pp. 221-250.
Typ publikacji:
Journal Article
MeSH Terms:
Cell-Free Nucleic Acids*
Colorectal Neoplasms*/diagnosis
Colorectal Neoplasms*/genetics
Colorectal Neoplasms*/pathology
Biomarkers, Tumor/genetics ; Case-Control Studies ; Core Binding Factor Alpha 3 Subunit ; DNA Methylation ; Fibrillin-1/genetics ; Humans ; MutL Protein Homolog 1/genetics ; alpha-Synuclein/genetics
Czasopismo naukowe
Tytuł:
Mismatch repair deficiency is rare in bone and soft tissue tumors.
Autorzy:
Lam SW; Department of Pathology, Leiden University Medical Center, Leiden, The Netherlands.
Kostine M; Department of Rheumatology, Centre Hospitalier Universitaire de Bordeaux Groupe hospitalier Pellegrin, Bordeaux, France.
de Miranda NFCC; Department of Pathology, Leiden University Medical Center, Leiden, The Netherlands.
Schöffski P; Department of General Medical Oncology, University Hospitals Leuven, Leuven Cancer Institute, Leuven, Belgium.; Department of Oncology, KU Leuven, Laboratory of Experimental Oncology, Leuven, Belgium.
Lee CJ; Department of General Medical Oncology, University Hospitals Leuven, Leuven Cancer Institute, Leuven, Belgium.; Department of Oncology, KU Leuven, Laboratory of Experimental Oncology, Leuven, Belgium.
Morreau H; Department of Pathology, Leiden University Medical Center, Leiden, The Netherlands.
Bovée JVMG; Department of Pathology, Leiden University Medical Center, Leiden, The Netherlands.
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Źródło:
Histopathology [Histopathology] 2021 Oct; Vol. 79 (4), pp. 509-520. Date of Electronic Publication: 2021 Jun 08.
Typ publikacji:
Case Reports; Journal Article; Systematic Review
MeSH Terms:
Bone Neoplasms*
Brain Neoplasms*
Colorectal Neoplasms*
Neoplastic Syndromes, Hereditary*
Soft Tissue Neoplasms*
Biomarkers, Tumor/*analysis
Adult ; DNA-Binding Proteins/analysis ; DNA-Binding Proteins/metabolism ; Humans ; Male ; Middle Aged ; Mismatch Repair Endonuclease PMS2/analysis ; Mismatch Repair Endonuclease PMS2/metabolism ; MutL Protein Homolog 1/analysis ; MutL Protein Homolog 1/metabolism ; MutS Homolog 2 Protein/analysis ; MutS Homolog 2 Protein/metabolism
SCR Disease Name:
Turcot syndrome
Czasopismo naukowe
Tytuł:
Highly sensitive MLH1 methylation analysis in blood identifies a cancer patient with low-level mosaic MLH1 epimutation.
Autorzy:
Dámaso E; Hereditary Cancer Program, Catalan Institute of Oncology, Institut d'Investigació Biomèdica de Bellvitge (IDIBELL), ONCOBELL Program, Av. Gran Via de l'Hospitalet, 199-203, 08908 L' Hospitalet de Llobregat, Barcelona, Spain.
Canet-Hermida J; Hereditary Cancer Program, Catalan Institute of Oncology, Institut d'Investigació Biomèdica de Bellvitge (IDIBELL), ONCOBELL Program, Av. Gran Via de l'Hospitalet, 199-203, 08908 L' Hospitalet de Llobregat, Barcelona, Spain.
Vargas-Parra G; Hereditary Cancer Program, Catalan Institute of Oncology, Institut d'Investigació Biomèdica de Bellvitge (IDIBELL), ONCOBELL Program, Av. Gran Via de l'Hospitalet, 199-203, 08908 L' Hospitalet de Llobregat, Barcelona, Spain.; Department of General and Digestive Surgery, Dr Josep Trueta University Hospital, Girona, Spain.
Velasco À; Department of General and Digestive Surgery, Dr Josep Trueta University Hospital, Girona, Spain.; Hereditary Cancer Program, Catalan Institute of Oncology, Institut d'Investigació Biomèdica de Girona (IDIBGI), Girona, Spain.
Marín F; Hereditary Cancer Program, Catalan Institute of Oncology, Institut d'Investigació Biomèdica de Bellvitge (IDIBELL), ONCOBELL Program, Av. Gran Via de l'Hospitalet, 199-203, 08908 L' Hospitalet de Llobregat, Barcelona, Spain.; Department of General and Digestive Surgery, Dr Josep Trueta University Hospital, Girona, Spain.
Darder E; Hereditary Cancer Program, Catalan Institute of Oncology, Institut d'Investigació Biomèdica de Girona (IDIBGI), Girona, Spain.
Del Valle J; Hereditary Cancer Program, Catalan Institute of Oncology, Institut d'Investigació Biomèdica de Bellvitge (IDIBELL), ONCOBELL Program, Av. Gran Via de l'Hospitalet, 199-203, 08908 L' Hospitalet de Llobregat, Barcelona, Spain.; Department of General and Digestive Surgery, Dr Josep Trueta University Hospital, Girona, Spain.
Fernández A; Hereditary Cancer Program, Catalan Institute of Oncology, Institut d'Investigació Biomèdica de Bellvitge (IDIBELL), ONCOBELL Program, Av. Gran Via de l'Hospitalet, 199-203, 08908 L' Hospitalet de Llobregat, Barcelona, Spain.
Izquierdo À; Hereditary Cancer Program, Catalan Institute of Oncology, Institut d'Investigació Biomèdica de Girona (IDIBGI), Girona, Spain.
Mateu G; Pathology Department, Dr Josep Trueta University Hospital, Girona, Spain.
Oliveras G; Pathology Department, Dr Josep Trueta University Hospital, Girona, Spain.
Escribano C; Pathology Department, Clínica Girona, Girona, Spain.
Piñol V; Department of Gastroenterology, Dr Josep Trueta University Hospital, Girona, Spain.
Uchima HI; Department of Gastroenterology, Dr Josep Trueta University Hospital, Girona, Spain.
Soto JL; Hereditary Cancer Program Valencian Region, Molecular Genetics Laboratory, Elche University Hospital, Elche, Alicante, Spain.
Hitchins M; Department of Biomedical Sciences, Cedars-Sinai Medical Center, CA, Los Angeles, USA.
Farrés R; Department of General and Digestive Surgery, Dr Josep Trueta University Hospital, Girona, Spain.
Lázaro C; Hereditary Cancer Program, Catalan Institute of Oncology, Institut d'Investigació Biomèdica de Bellvitge (IDIBELL), ONCOBELL Program, Av. Gran Via de l'Hospitalet, 199-203, 08908 L' Hospitalet de Llobregat, Barcelona, Spain.; Centro de Investigación Biomédica en Red de Cáncer (CIBERONC), Madrid, Spain.
Queralt B; Department of Medical Oncology, Catalan Institute of Oncology, Girona, Spain.
Brunet J; Hereditary Cancer Program, Catalan Institute of Oncology, Institut d'Investigació Biomèdica de Bellvitge (IDIBELL), ONCOBELL Program, Av. Gran Via de l'Hospitalet, 199-203, 08908 L' Hospitalet de Llobregat, Barcelona, Spain.; Hereditary Cancer Program, Catalan Institute of Oncology, Institut d'Investigació Biomèdica de Girona (IDIBGI), Girona, Spain.; Centro de Investigación Biomédica en Red de Cáncer (CIBERONC), Madrid, Spain.; Department of Medical Sciences Department, School of Medicine, University of Girona, Girona, Spain.
Capellá G; Hereditary Cancer Program, Catalan Institute of Oncology, Institut d'Investigació Biomèdica de Bellvitge (IDIBELL), ONCOBELL Program, Av. Gran Via de l'Hospitalet, 199-203, 08908 L' Hospitalet de Llobregat, Barcelona, Spain. .; Centro de Investigación Biomédica en Red de Cáncer (CIBERONC), Madrid, Spain. .
Pineda M; Hereditary Cancer Program, Catalan Institute of Oncology, Institut d'Investigació Biomèdica de Bellvitge (IDIBELL), ONCOBELL Program, Av. Gran Via de l'Hospitalet, 199-203, 08908 L' Hospitalet de Llobregat, Barcelona, Spain. .; Centro de Investigación Biomédica en Red de Cáncer (CIBERONC), Madrid, Spain. .
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Źródło:
Clinical epigenetics [Clin Epigenetics] 2019 Nov 28; Vol. 11 (1), pp. 171. Date of Electronic Publication: 2019 Nov 28.
Typ publikacji:
Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
DNA Methylation*
Mutation*
Colorectal Neoplasms/*genetics
Genetic Testing/*methods
MutL Protein Homolog 1/*genetics
Adult ; Colorectal Neoplasms/blood ; DNA/blood ; Female ; Humans ; Male ; Middle Aged ; Mosaicism ; MutL Protein Homolog 1/blood ; Promoter Regions, Genetic ; Young Adult
Czasopismo naukowe
Tytuł:
The polymorphic variant rs1800734 influences methylation acquisition and allele-specific TFAP4 binding in the MLH1 promoter leading to differential mRNA expression.
Autorzy:
Thomas R; Cancer Gene Regulation Group, Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Oxford, OX3 7BN, UK.
Trapani D; Anatomic Pathology Unit, Department of Medicine and Surgery and Research Center of Hereditary and Familial Tumors, University of Insubria, Varese, 21100, Italy.
Goodyer-Sait L; Institute of Structural and Molecular Biology, Department of, Biological Sciences, Birkbeck, London, UK.
Tomkova M; Ludwig Institute for Cancer Research Ltd, University of Oxford, Nuffield Department of Clinical Medicine, Old Road Campus Research Building, Roosevelt Drive, Oxford, OX3 7DQ, UK.
Fernandez-Rozadilla C; Fundación Pública Galega de Medicina Xenómica, Grupo de Medicina Xenómica, IDIS, Santiago de Compostela, Spain.
Sahnane N; Anatomic Pathology Unit, Department of Medicine and Surgery and Research Center of Hereditary and Familial Tumors, University of Insubria, Varese, 21100, Italy.
Woolley C; Cancer Genetics and Evolution Laboratory, Institute of Cancer and Genomic Sciences, College of Medical and Dental Sciences, University of Birmingham, Birmingham, UK.
Davis H; Intestinal Stem Cell Biology Group, Wellcome Trust Centre for Human Genetics, Oxford University, Roosevelt Drive, Oxford, OX3 7BN, UK.
Chegwidden L; Gastrointestinal Cancer Genetics Laboratory, Institute of Cancer and Genomic Sciences, College of Medical and Dental Sciences, University of Birmingham, Birmingham, UK.
Kriaucionis S; Ludwig Institute for Cancer Research Ltd, University of Oxford, Nuffield Department of Clinical Medicine, Old Road Campus Research Building, Roosevelt Drive, Oxford, OX3 7DQ, UK.
Maughan T; Oxford Institute of Radiation Oncology, University of Oxford, Old Road Campus Research Building, Roosevelt Drive, Oxford, OX3 7DQ, UK.
Leedham S; Intestinal Stem Cell Biology Group, Wellcome Trust Centre for Human Genetics, Oxford University, Roosevelt Drive, Oxford, OX3 7BN, UK.
Palles C; Gastrointestinal Cancer Genetics Laboratory, Institute of Cancer and Genomic Sciences, College of Medical and Dental Sciences, University of Birmingham, Birmingham, UK.
Furlan D; Anatomic Pathology Unit, Department of Medicine and Surgery and Research Center of Hereditary and Familial Tumors, University of Insubria, Varese, 21100, Italy.
Tomlinson I; Cancer Genetics and Evolution Laboratory, Institute of Cancer and Genomic Sciences, College of Medical and Dental Sciences, University of Birmingham, Birmingham, UK.
Lewis A; Cancer Gene Regulation Group, Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Oxford, OX3 7BN, UK. .; Division of Biosciences, Department of Life Sciences, Brunel University London, Old Road Campus Research Building, Roosevelt Drive, Uxbridge, UB8 3PN, UK. .
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Źródło:
Scientific reports [Sci Rep] 2019 Sep 17; Vol. 9 (1), pp. 13463. Date of Electronic Publication: 2019 Sep 17.
Typ publikacji:
Journal Article; Meta-Analysis; Research Support, Non-U.S. Gov't
MeSH Terms:
Polymorphism, Single Nucleotide*
Promoter Regions, Genetic*
Colorectal Neoplasms/*genetics
DNA-Binding Proteins/*metabolism
MutL Protein Homolog 1/*genetics
Transcription Factors/*metabolism
Alleles ; Case-Control Studies ; CpG Islands ; DNA Methylation ; DNA-Binding Proteins/genetics ; Databases, Factual ; Gene Expression Regulation, Neoplastic ; Genetic Predisposition to Disease ; Humans ; Microsatellite Instability ; MutL Protein Homolog 1/metabolism ; RNA, Messenger/genetics ; Transcription Factors/genetics
Czasopismo naukowe
Tytuł:
DNA methylation changes that precede onset of dysplasia in advanced sessile serrated adenomas.
Autorzy:
Liu C; The Conjoint Gastroenterology Laboratory, QIMR Berghofer Medical Research Institute, 300 Herston Road, Herston, Brisbane, QLD, 4006, Australia. .; Faculty of Medicine, University of Queensland, Brisbane, QLD, Australia. .; Envoi Specialist Pathologists, Brisbane, QLD, Australia. .
Fennell LJ; The Conjoint Gastroenterology Laboratory, QIMR Berghofer Medical Research Institute, 300 Herston Road, Herston, Brisbane, QLD, 4006, Australia.; Faculty of Medicine, University of Queensland, Brisbane, QLD, Australia.
Bettington ML; Faculty of Medicine, University of Queensland, Brisbane, QLD, Australia.; Envoi Specialist Pathologists, Brisbane, QLD, Australia.
Walker NI; Faculty of Medicine, University of Queensland, Brisbane, QLD, Australia.; Envoi Specialist Pathologists, Brisbane, QLD, Australia.
Dwine J; Envoi Specialist Pathologists, Brisbane, QLD, Australia.
Leggett BA; The Conjoint Gastroenterology Laboratory, QIMR Berghofer Medical Research Institute, 300 Herston Road, Herston, Brisbane, QLD, 4006, Australia.; Faculty of Medicine, University of Queensland, Brisbane, QLD, Australia.; The Royal Brisbane and Women's Hospital, Brisbane, QLD, Australia.
Whitehall VLJ; The Conjoint Gastroenterology Laboratory, QIMR Berghofer Medical Research Institute, 300 Herston Road, Herston, Brisbane, QLD, 4006, Australia.; Faculty of Medicine, University of Queensland, Brisbane, QLD, Australia.; Department of Chemical Pathology, Pathology Queensland, Brisbane, QLD, Australia.
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Źródło:
Clinical epigenetics [Clin Epigenetics] 2019 Jun 14; Vol. 11 (1), pp. 90. Date of Electronic Publication: 2019 Jun 14.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
DNA Methylation*
Adenoma/*genetics
Colorectal Neoplasms/*genetics
MutL Protein Homolog 1/*genetics
Adenoma/metabolism ; Aged ; Aged, 80 and over ; Biomarkers, Tumor/genetics ; Colorectal Neoplasms/metabolism ; CpG Islands ; Down-Regulation ; Female ; Gene Expression Regulation, Neoplastic ; Gene Regulatory Networks ; Humans ; Male ; MutL Protein Homolog 1/metabolism ; Promoter Regions, Genetic
Czasopismo naukowe
Tytuł:
Comprehensive analysis of oncogenic fusions in mismatch repair deficient colorectal carcinomas by sequential DNA and RNA next generation sequencing.
Autorzy:
Wang J; Department of Pathology, Peking Union Medical College Hospital, and Molecular Pathology Research Center, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, 100730, China.
Li R; Department of Pathology, Peking Union Medical College Hospital, and Molecular Pathology Research Center, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, 100730, China.
Li J; Department of Pathology, Peking Union Medical College Hospital, and Molecular Pathology Research Center, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, 100730, China.
Yi Y; Geneplus-Beijing Institute, Beijing, China.
Liu X; Department of Pathology, Peking Union Medical College Hospital, and Molecular Pathology Research Center, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, 100730, China.
Chen J; Department of Pathology, Peking Union Medical College Hospital, and Molecular Pathology Research Center, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, 100730, China.
Zhang H; Department of Pathology, Peking Union Medical College Hospital, and Molecular Pathology Research Center, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, 100730, China.
Lu J; Department of Pathology, Peking Union Medical College Hospital, and Molecular Pathology Research Center, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, 100730, China.
Li C; Department of Pathology, Peking Union Medical College Hospital, and Molecular Pathology Research Center, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, 100730, China.
Wu H; Department of Pathology, Peking Union Medical College Hospital, and Molecular Pathology Research Center, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, 100730, China. .
Liang Z; Department of Pathology, Peking Union Medical College Hospital, and Molecular Pathology Research Center, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, 100730, China. .
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Źródło:
Journal of translational medicine [J Transl Med] 2021 Oct 17; Vol. 19 (1), pp. 433. Date of Electronic Publication: 2021 Oct 17.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Colorectal Neoplasms*/genetics
Oncogene Fusion*
Aged ; DNA ; DNA Mismatch Repair/genetics ; High-Throughput Nucleotide Sequencing ; Humans ; MutL Protein Homolog 1/genetics ; Mutation/genetics ; Proto-Oncogene Proteins B-raf/genetics ; RNA ; ras Proteins
Czasopismo naukowe
Tytuł:
Development of a liquid biopsy based purely quantitative digital droplet PCR assay for detection of MLH1 promoter methylation in colorectal cancer patients.
Autorzy:
Wang D; Global Clinical Biomarkers and Companion Diagnostics, Global Early Development, EMD Serono Research and Development Institute, Billerica, MA, USA.
O'Rourke D; Global Clinical Biomarkers and Companion Diagnostics, Global Early Development, EMD Serono Research and Development Institute, Billerica, MA, USA.
Sanchez-Garcia JF; Global Clinical Biomarkers and Companion Diagnostics, Global Early Development, EMD Serono Research and Development Institute, Billerica, MA, USA.
Cai T; Global Clinical Biomarkers and Companion Diagnostics, Global Early Development, EMD Serono Research and Development Institute, Billerica, MA, USA.
Scheuenpflug J; Global Clinical Biomarkers and Companion Diagnostics, Global Early Development, Merck Biopharma, Merck KGaA, Darmstadt, Germany.
Feng Z; Global Clinical Biomarkers and Companion Diagnostics, Global Early Development, EMD Serono Research and Development Institute, Billerica, MA, USA. .
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Źródło:
BMC cancer [BMC Cancer] 2021 Jul 10; Vol. 21 (1), pp. 797. Date of Electronic Publication: 2021 Jul 10.
Typ publikacji:
Journal Article
MeSH Terms:
Colorectal Neoplasms/*genetics
DNA Methylation/*genetics
Liquid Biopsy/*methods
MutL Protein Homolog 1/*metabolism
Polymerase Chain Reaction/*methods
Colorectal Neoplasms/pathology ; Female ; Humans ; Male
Czasopismo naukowe
Tytuł:
Nuclear translocation of ATG5 induces DNA mismatch repair deficiency (MMR-D)/microsatellite instability (MSI) via interacting with Mis18α in colorectal cancer.
Autorzy:
Sun SY; Department of Pharmacology, School of Basic Medical Sciences, Capital Medical University, Beijing, China.; Institute of Acu-moxibustion, China Academy of Chinese Medical Sciences, Beijing, China.
Hu XT; Department of Pharmacology, School of Basic Medical Sciences, Capital Medical University, Beijing, China.
Yu XF; Department of Pharmacology, School of Basic Medical Sciences, Capital Medical University, Beijing, China.
Zhang YY; Department of Experimental Pathology, College of Basic Medical Sciences, Shandong First Medical University and Shandong Academy of Medical Sciences, Jinan, China.
Liu XH; Department of Pharmacology, School of Basic Medical Sciences, Capital Medical University, Beijing, China.
Liu YH; Department of Pathology, Hospital of Bin Zhou Medical College, Binzhou, China.
Wu SH; Department of Pathology, Hospital of Bin Zhou Medical College, Binzhou, China.
Li YY; Department of Pathology, Hospital of Bin Zhou Medical College, Binzhou, China.
Cui SX; Toxicology and Sanitary Chemistry, School of Public Health, Capital Medical University, Beijing, China.
Qu XJ; Department of Pharmacology, School of Basic Medical Sciences, Capital Medical University, Beijing, China.
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Źródło:
British journal of pharmacology [Br J Pharmacol] 2021 Jun; Vol. 178 (11), pp. 2351-2369. Date of Electronic Publication: 2021 Apr 29.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Adaptor Proteins, Signal Transducing*/genetics
Autophagy-Related Protein 5*
Colorectal Neoplasms*/drug therapy
Colorectal Neoplasms*/genetics
Microsatellite Instability*
Animals ; Brain Neoplasms ; Chromosomal Proteins, Non-Histone ; DNA ; DNA Methylation ; Humans ; Mice ; MutL Protein Homolog 1/genetics ; Neoplastic Syndromes, Hereditary
SCR Disease Name:
Turcot syndrome
Czasopismo naukowe
Tytuł:
Combined Gemcitabine and Immune-Checkpoint Inhibition Conquers Anti-PD-L1 Resistance in Low-Immunogenic Mismatch Repair-Deficient Tumors.
Autorzy:
Salewski I; Department of Medicine, Clinic III-Hematology, Oncology, Palliative Medicine, Rostock University Medical Center, University of Rostock, 18057 Rostock, Germany.
Henne J; Department of Medicine, Clinic III-Hematology, Oncology, Palliative Medicine, Rostock University Medical Center, University of Rostock, 18057 Rostock, Germany.
Engster L; Department of Medicine, Clinic III-Hematology, Oncology, Palliative Medicine, Rostock University Medical Center, University of Rostock, 18057 Rostock, Germany.
Schneider B; Institute of Pathology, Rostock University Medical Center, University of Rostock, 18057 Rostock, Germany.
Lemcke H; Department of Cardiac Surgery, Reference and Translation Center for Cardiac Stem Cell Therapy (RTC), Rostock University Medical Center, University of Rostock, 18057 Rostock, Germany.; Faculty of Interdisciplinary Research, Department Life, Light & Matter, University Rostock, 18057 Rostock, Germany.
Skorska A; Department of Cardiac Surgery, Reference and Translation Center for Cardiac Stem Cell Therapy (RTC), Rostock University Medical Center, University of Rostock, 18057 Rostock, Germany.; Faculty of Interdisciplinary Research, Department Life, Light & Matter, University Rostock, 18057 Rostock, Germany.
Berlin P; Division of Gastroenterology and Endocrinology, Department of Medicine II, Rostock University Medical Center, University of Rostock, 18057 Rostock, Germany.
Henze L; Department of Medicine, Clinic III-Hematology, Oncology, Palliative Medicine, Rostock University Medical Center, University of Rostock, 18057 Rostock, Germany.
Junghanss C; Department of Medicine, Clinic III-Hematology, Oncology, Palliative Medicine, Rostock University Medical Center, University of Rostock, 18057 Rostock, Germany.
Maletzki C; Department of Medicine, Clinic III-Hematology, Oncology, Palliative Medicine, Rostock University Medical Center, University of Rostock, 18057 Rostock, Germany.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2021 Jun 01; Vol. 22 (11). Date of Electronic Publication: 2021 Jun 01.
Typ publikacji:
Journal Article
MeSH Terms:
B7-H1 Antigen/*genetics
Brain Neoplasms/*drug therapy
Colorectal Neoplasms/*drug therapy
Colorectal Neoplasms, Hereditary Nonpolyposis/*drug therapy
MutL Protein Homolog 1/*genetics
Neoplastic Syndromes, Hereditary/*drug therapy
Animals ; B7-H1 Antigen/antagonists & inhibitors ; B7-H1 Antigen/immunology ; Brain Neoplasms/blood ; Brain Neoplasms/genetics ; Brain Neoplasms/immunology ; Chemokine CCL4/blood ; Colorectal Neoplasms/blood ; Colorectal Neoplasms/genetics ; Colorectal Neoplasms/immunology ; Colorectal Neoplasms, Hereditary Nonpolyposis/blood ; Colorectal Neoplasms, Hereditary Nonpolyposis/genetics ; Colorectal Neoplasms, Hereditary Nonpolyposis/immunology ; DNA Mismatch Repair/genetics ; Deoxycytidine/analogs & derivatives ; Deoxycytidine/pharmacology ; Disease Models, Animal ; Drug Resistance, Neoplasm/genetics ; Humans ; Immune Checkpoint Inhibitors/pharmacology ; Interleukin-13/blood ; Lymphocytes, Tumor-Infiltrating/metabolism ; Lymphocytes, Tumor-Infiltrating/pathology ; Mice ; Myeloid-Derived Suppressor Cells ; Neoplastic Syndromes, Hereditary/blood ; Neoplastic Syndromes, Hereditary/genetics ; Neoplastic Syndromes, Hereditary/immunology ; T-Lymphocytes, Cytotoxic/metabolism ; T-Lymphocytes, Cytotoxic/pathology ; Tumor Necrosis Factor-alpha/blood ; Gemcitabine
SCR Disease Name:
Turcot syndrome
Czasopismo naukowe

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