Information

Dear user, the application need JavaScript support. Please enable JavaScript in your browser.

You search for a phrase ""MutL Protein Homolog 1"" according to the criterion: Subject Terms


Title:
Classification of MLH1 Missense VUS Using Protein Structure-Based Deep Learning-Ramachandran Plot-Molecular Dynamics Simulations Method.
Authors:
Tam B; Ministry of Education Frontiers Science Center for Precision Oncology, Faculty of Health Sciences, University of Macau, Macau SAR, China.; Cancer Centre, Faculty of Health Sciences, University of Macau, Macau SAR, China.; Institute of Translational Medicine, Faculty of Health Sciences, University of Macau, Macau SAR, China.
Qin Z; Ministry of Education Frontiers Science Center for Precision Oncology, Faculty of Health Sciences, University of Macau, Macau SAR, China.; Cancer Centre, Faculty of Health Sciences, University of Macau, Macau SAR, China.; Institute of Translational Medicine, Faculty of Health Sciences, University of Macau, Macau SAR, China.
Zhao B; Ministry of Education Frontiers Science Center for Precision Oncology, Faculty of Health Sciences, University of Macau, Macau SAR, China.; Cancer Centre, Faculty of Health Sciences, University of Macau, Macau SAR, China.; Institute of Translational Medicine, Faculty of Health Sciences, University of Macau, Macau SAR, China.
Sinha S; Ministry of Education Frontiers Science Center for Precision Oncology, Faculty of Health Sciences, University of Macau, Macau SAR, China.; Cancer Centre, Faculty of Health Sciences, University of Macau, Macau SAR, China.; Institute of Translational Medicine, Faculty of Health Sciences, University of Macau, Macau SAR, China.
Lei CL; Ministry of Education Frontiers Science Center for Precision Oncology, Faculty of Health Sciences, University of Macau, Macau SAR, China.; Cancer Centre, Faculty of Health Sciences, University of Macau, Macau SAR, China.; Institute of Translational Medicine, Faculty of Health Sciences, University of Macau, Macau SAR, China.
Wang SM; Ministry of Education Frontiers Science Center for Precision Oncology, Faculty of Health Sciences, University of Macau, Macau SAR, China.; Cancer Centre, Faculty of Health Sciences, University of Macau, Macau SAR, China.; Institute of Translational Medicine, Faculty of Health Sciences, University of Macau, Macau SAR, China.
Show more
Source:
International journal of molecular sciences [Int J Mol Sci] 2024 Jan 10; Vol. 25 (2). Date of Electronic Publication: 2024 Jan 10.
Publication Type:
Journal Article
MeSH Terms:
Colorectal Neoplasms, Hereditary Nonpolyposis*/genetics
Deep Learning*
MutL Protein Homolog 1*/genetics
Humans ; Databases, Factual ; DNA Mismatch Repair ; Molecular Dynamics Simulation
Academic Journal
Title:
Association between colorectal cancer, the frequency of Bacteroides fragilis, and the level of mismatch repair genes expression in the biopsy samples of Iranian patients.
Authors:
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_.
Show more
Source:
BMC gastroenterology [BMC Gastroenterol] 2024 Feb 23; Vol. 24 (1), pp. 82. Date of Electronic Publication: 2024 Feb 23.
Publication Type:
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
Academic Journal
Title:
Epigenetic MLH1 silencing concurs with mismatch repair deficiency in sporadic, naturally occurring colorectal cancer in rhesus macaques.
Authors:
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. .
Show more
Source:
Journal of translational medicine [J Transl Med] 2024 Mar 19; Vol. 22 (1), pp. 292. Date of Electronic Publication: 2024 Mar 19.
Publication Type:
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
Academic Journal
Title:
Rare germline mutation and MSH2-&MSH6 + expression in a double primary carcinoma of colorectal carcinoma and endometrial carcinoma: a case report.
Authors:
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. .
Show more
Source:
Diagnostic pathology [Diagn Pathol] 2024 Jan 31; Vol. 19 (1), pp. 25. Date of Electronic Publication: 2024 Jan 31.
Publication Type:
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
Academic Journal
Title:
Association of a novel frameshift variant and a known deleterious variant in MMR genes with Lynch syndrome in Chinese families.
Authors:
Li J; Department of Pharmacy, The Central Hospital of Wuhan, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei, China. .
Ni H; Department of Pathology, The Central Hospital of Wuhan, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei, China.
Wang X; Department of Pain, The Central Hospital of Wuhan, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei, China.
Cheng W; Department of Endocrinology, Institute of Geriatric Medicine, Liyuan Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei, China.
Li L; Department of Oncology, The Central Hospital of Wuhan, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
Cheng Y; Department of Gastrointestinal Surgery, The Central Hospital of Wuhan, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei, China.
Liu C; Hubei Key Laboratory of Diabetes and Angiopathy, Hubei University of Science and Technology, Xianning, Hubei, 437000, China.
Li Y; Department of Pharmacy, The Central Hospital of Wuhan, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei, China. .
Deng A; Department of Pharmacy, The Central Hospital of Wuhan, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei, China. .
Show more
Source:
World journal of surgical oncology [World J Surg Oncol] 2024 Jan 27; Vol. 22 (1), pp. 36. Date of Electronic Publication: 2024 Jan 27.
Publication Type:
Journal Article
MeSH Terms:
Colorectal Neoplasms, Hereditary Nonpolyposis*/genetics
Colorectal Neoplasms, Hereditary Nonpolyposis*/pathology
Neoplastic Syndromes, Hereditary*
Humans ; DNA Mismatch Repair/genetics ; Germ-Line Mutation ; DNA-Binding Proteins/genetics ; China/epidemiology ; MutL Protein Homolog 1/genetics ; Mismatch Repair Endonuclease PMS2/genetics ; Mismatch Repair Endonuclease PMS2/metabolism
Academic Journal
Title:
Comparison of immediate germline sequencing and multi-step screening for Lynch syndrome detection in high-risk endometrial and colorectal cancer patients.
Authors:
Chao AS; Department of Obstetrics and Gynecology, New Taipei Municipal Tu Cheng Hospital, New Taipei City, Taiwan.; Department of Obstetrics and Gynecology, Linkou Chang Gung Memorial Hospital and Chang Gung University, College of Medicine, Taoyuan, Taiwan.
Chao A; Department of Obstetrics and Gynecology, Linkou Chang Gung Memorial Hospital and Chang Gung University, College of Medicine, Taoyuan, Taiwan.; Gynecologic Cancer Research Center, Linkou Chang Gung Memorial Hospital, Taoyuan, Taiwan.
Lai CH; Department of Obstetrics and Gynecology, Linkou Chang Gung Memorial Hospital and Chang Gung University, College of Medicine, Taoyuan, Taiwan.; Gynecologic Cancer Research Center, Linkou Chang Gung Memorial Hospital, Taoyuan, Taiwan.
Lin CY; Department of Obstetrics and Gynecology, Linkou Chang Gung Memorial Hospital and Chang Gung University, College of Medicine, Taoyuan, Taiwan.; Gynecologic Cancer Research Center, Linkou Chang Gung Memorial Hospital, Taoyuan, Taiwan.
Yang LY; Biostatistics Unit, Clinical Trial Center, Linkou Chang Gung Memorial Hospital, Taoyuan, Taiwan.
Chang SC; Department of Laboratory Medicine, Chang Gung Memorial Hospital, Taoyuan, Taiwan.
Wu RC; Gynecologic Cancer Research Center, Linkou Chang Gung Memorial Hospital, Taoyuan, Taiwan.; Department of Pathology, Chang Gung Memorial Hospital Linkou Medical Center and Chang Gung University College of Medicine, Taoyuan, Taiwan. .
Show more
Source:
Journal of gynecologic oncology [J Gynecol Oncol] 2024 Jan; Vol. 35 (1), pp. e5. Date of Electronic Publication: 2023 Sep 05.
Publication Type:
Journal Article
MeSH Terms:
Colorectal Neoplasms, Hereditary Nonpolyposis*/diagnosis
Colorectal Neoplasms, Hereditary Nonpolyposis*/genetics
Endometrial Neoplasms*/diagnosis
Endometrial Neoplasms*/genetics
Endometrial Neoplasms*/pathology
Humans ; Female ; Biomarkers, Tumor/analysis ; Early Detection of Cancer/methods ; Germ Cells/chemistry ; Germ Cells/metabolism ; Germ Cells/pathology ; DNA Mismatch Repair/genetics ; MutL Protein Homolog 1/genetics ; DNA Methylation
Academic Journal
Title:
Prevalence and characteristics of patients with upper urinary tract urothelial carcinoma having potential Lynch syndrome identified by immunohistochemical universal screening and Amsterdam criteria II.
Authors:
Tanabe K; Department of Urology, National Cancer Center Hospital East, 6-5-1 Kashiwanoha, Kashiwa-Shi, Chiba, 277-8577, Japan.
Nakanishi Y; Department of Urology, National Cancer Center Hospital East, 6-5-1 Kashiwanoha, Kashiwa-Shi, Chiba, 277-8577, Japan. .
Okubo N; Department of Urology, National Cancer Center Hospital East, 6-5-1 Kashiwanoha, Kashiwa-Shi, Chiba, 277-8577, Japan.
Matsumoto S; Department of Urology, National Cancer Center Hospital East, 6-5-1 Kashiwanoha, Kashiwa-Shi, Chiba, 277-8577, Japan.
Umino Y; Department of Urology, National Cancer Center Hospital East, 6-5-1 Kashiwanoha, Kashiwa-Shi, Chiba, 277-8577, Japan.
Kataoka M; Department of Urology, National Cancer Center Hospital East, 6-5-1 Kashiwanoha, Kashiwa-Shi, Chiba, 277-8577, Japan.
Yajima S; Department of Urology, National Cancer Center Hospital East, 6-5-1 Kashiwanoha, Kashiwa-Shi, Chiba, 277-8577, Japan.
Yoshida T; Department of Genetic Medicine, National Cancer Center Hospital, Tokyo, Japan.
Miyazaki S; Department of Pathology and Clinical Laboratories, National Cancer Center Hospital East, Chiba, Japan.
Kuwata T; Department of Pathology and Clinical Laboratories, National Cancer Center Hospital East, Chiba, Japan.; Department of Genetic Medicine, National Cancer Center Hospital East, Chiba, Japan.
Ishii G; Department of Pathology and Clinical Laboratories, National Cancer Center Hospital East, Chiba, Japan.
Watanabe R; Department of Genetic Medicine, National Cancer Center Hospital, Tokyo, Japan.; Department of Pathology, St. Marianna University School of Medicine, Kanagawa, Japan.
Masuda H; Department of Urology, National Cancer Center Hospital East, 6-5-1 Kashiwanoha, Kashiwa-Shi, Chiba, 277-8577, Japan.
Show more
Source:
BMC cancer [BMC Cancer] 2023 Oct 05; Vol. 23 (1), pp. 940. Date of Electronic Publication: 2023 Oct 05.
Publication Type:
Journal Article
MeSH Terms:
Carcinoma, Transitional Cell*/diagnosis
Carcinoma, Transitional Cell*/epidemiology
Carcinoma, Transitional Cell*/genetics
Colorectal Neoplasms, Hereditary Nonpolyposis*/diagnosis
Colorectal Neoplasms, Hereditary Nonpolyposis*/epidemiology
Colorectal Neoplasms, Hereditary Nonpolyposis*/genetics
Urinary Bladder Neoplasms*
Kidney Neoplasms*
Ureteral Neoplasms*/diagnosis
Ureteral Neoplasms*/epidemiology
Urinary Tract*/metabolism
Urinary Tract*/pathology
Humans ; Female ; Male ; Mismatch Repair Endonuclease PMS2/genetics ; Mismatch Repair Endonuclease PMS2/metabolism ; Retrospective Studies ; Prevalence ; MutS Homolog 2 Protein/genetics ; MutS Homolog 2 Protein/metabolism ; MutL Protein Homolog 1/genetics ; MutL Protein Homolog 1/metabolism ; DNA Mismatch Repair
Academic Journal
Title:
Germline variants screening of MLH1, MSH2, MSH6 and PMS2 genes in 64 Algerian Lynch syndrome families: The first nationwide study.
Authors:
Boumehdi AL; Molecular Genetics Team, LMCB, Faculty of Biological Sciences, University of Science and Technology Houari Boumediene, Algiers, Algeria.
Cherbal F; Molecular Genetics Team, LMCB, Faculty of Biological Sciences, University of Science and Technology Houari Boumediene, Algiers, Algeria.
Khider F; Molecular Genetics Team, LMCB, Faculty of Biological Sciences, University of Science and Technology Houari Boumediene, Algiers, Algeria.
Oukkal M; Clinic of Medical Oncology Amine Zirout, University Hospital of Beni-Messous, School of Medicine, University of Algiers-1, Algiers, Algeria.
Mahfouf H; Mohamed El Kolli Public Hospital, Academic Medical Oncology Services, School of Medicine, University of Algiers-1, Rouiba, Algeria.
Zebboudj F; Mohamed El Kolli Public Hospital, Academic General Surgery Services, School of Medicine, University of Algiers-1, Rouiba, Algeria.
Maaoui M; Bachir Mentouri Public Hospital, Academic General Surgery Services, School of Medicine, University of Algiers-1, Kouba, Algeria.
Show more
Source:
Annals of human genetics [Ann Hum Genet] 2022 Nov; Vol. 86 (6), pp. 328-352. Date of Electronic Publication: 2022 Sep 08.
Publication Type:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Colorectal Neoplasms, Hereditary Nonpolyposis*/genetics
Colorectal Neoplasms, Hereditary Nonpolyposis*/diagnosis
Colorectal Neoplasms, Hereditary Nonpolyposis*/pathology
Mismatch Repair Endonuclease PMS2*/genetics
MutL Protein Homolog 1*/genetics
MutS Homolog 2 Protein*/genetics
Female ; Humans ; Male ; Algeria ; Germ-Line Mutation
Academic Journal
Title:
Double Duty: Complete Pathologic Response of Two Colonic Primaries with Mosaicism of a Novel MLH1 Mutation to Neoadjuvant Pembrolizumab.
Authors:
Preti B; Division of Medical Oncology, Department of Oncology, Western University, London, ON N6A 3K7, Canada.
Schenkel L; Division of Molecular Diagnostics, Western University, London, ON N6A 3K7, Canada.
Cecchini M; Department of Pathology and Laboratory Medicine, Western University, London, ON N6A 3K7, Canada.
Romagnoli T; Department of Pathology and Laboratory Medicine, Western University, London, ON N6A 3K7, Canada.; Schulich School of Medicine & Dentistry, Western University, London, ON N6A 3K7, Canada.
Sanatani MS; Division of Medical Oncology, Department of Oncology, Western University, London, ON N6A 3K7, Canada.
French K; Temerty Faculty of Medicine, University of Toronto, Toronto, ON M5S 1A1, Canada.
Colquhoun P; Department of Surgery, Western University, London, ON N6A 3K7, Canada.
Vincent MD; Division of Medical Oncology, Department of Oncology, Western University, London, ON N6A 3K7, Canada.
Show more
Source:
Current oncology (Toronto, Ont.) [Curr Oncol] 2023 Oct 06; Vol. 30 (10), pp. 9039-9048. Date of Electronic Publication: 2023 Oct 06.
Publication Type:
Case Reports
MeSH Terms:
Mosaicism*
Neoadjuvant Therapy*
Colonic Neoplasms*/drug therapy
Colonic Neoplasms*/genetics
Humans ; Male ; Middle Aged ; Microsatellite Instability ; Mutation ; MutL Protein Homolog 1/genetics
Report
Title:
Key role of phosphorylation sites in ATPase domain and Linker region of MLH1 for DNA binding and functionality of MutLα.
Authors:
Firnau MB; Goethe University Frankfurt, University Hospital, Medical Clinic 1, Biomedical Research Laboratory, Theodor-Stern-Kai 7, 60590, Frankfurt, Germany.
Plotz G; Goethe University Frankfurt, University Hospital, Medical Clinic 1, Biomedical Research Laboratory, Theodor-Stern-Kai 7, 60590, Frankfurt, Germany.
Zeuzem S; Goethe University Frankfurt, University Hospital, Medical Clinic 1, Biomedical Research Laboratory, Theodor-Stern-Kai 7, 60590, Frankfurt, Germany.
Brieger A; Goethe University Frankfurt, University Hospital, Medical Clinic 1, Biomedical Research Laboratory, Theodor-Stern-Kai 7, 60590, Frankfurt, Germany. .
Show more
Source:
Scientific reports [Sci Rep] 2023 Aug 02; Vol. 13 (1), pp. 12503. Date of Electronic Publication: 2023 Aug 02.
Publication Type:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
DNA Mismatch Repair*
DNA*/metabolism
Humans ; Mismatch Repair Endonuclease PMS2/genetics ; Mismatch Repair Endonuclease PMS2/metabolism ; MutL Protein Homolog 1/genetics ; MutL Protein Homolog 1/metabolism ; Phosphorylation ; Protein Domains ; MutL Proteins/genetics ; MutL Proteins/metabolism
Academic Journal
Title:
From variant of unknown significance to likely pathogenic: Characterization and pathogenicity determination of a large genomic deletion in the MLH1 gene.
Authors:
Bouras A; Laboratory of Constitutional Genetics for Frequent Cancer HCL-CLB, Centre Léon Bérard, Lyon, France.
Legrand C; Genetic Service, Department of Genetics and Procreation, CHU Grenoble Alpes, Grenoble, France.
Kourda J; Department of Pathology, CYPATH, Grenoble, France.
Ruano E; Laboratory of Constitutional Genetics for Frequent Cancer HCL-CLB, Centre Léon Bérard, Lyon, France.
Grand-Masson C; Laboratory of Constitutional Genetics for Frequent Cancer HCL-CLB, Centre Léon Bérard, Lyon, France.
Lefol C; Laboratory of Constitutional Genetics for Frequent Cancer HCL-CLB, Centre Léon Bérard, Lyon, France.
Wang Q; Laboratory of Constitutional Genetics for Frequent Cancer HCL-CLB, Centre Léon Bérard, Lyon, France.
Show more
Source:
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2023 Sep; Vol. 11 (9), pp. e2231. Date of Electronic Publication: 2023 Jun 23.
Publication Type:
Case Reports; Journal Article
MeSH Terms:
Colorectal Neoplasms, Hereditary Nonpolyposis*/pathology
Male ; Humans ; Aged ; Virulence ; DNA Mismatch Repair ; Exons ; Genomics ; MutL Protein Homolog 1/genetics
Academic Journal
Title:
Genome sequencing identifies complex structural MLH1 variant in unsolved Lynch syndrome.
Authors:
Witt D; Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen, Tübingen, Germany.
Faust U; Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen, Tübingen, Germany.
Strobl-Wildemann G; MVZ Humangenetik Ulm, Ulm, Germany.
Sturm M; Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen, Tübingen, Germany.
Buchert R; Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen, Tübingen, Germany.
Zuleger T; Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen, Tübingen, Germany.
Admard J; Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen, Tübingen, Germany.
Casadei N; Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen, Tübingen, Germany.; NGS Competence Center Tübingen, Tübingen, Germany.
Ossowski S; Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen, Tübingen, Germany.
Haack TB; Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen, Tübingen, Germany.
Rieß O; Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen, Tübingen, Germany.
Schroeder C; Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen, Tübingen, Germany.
Show more
Source:
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2023 Jun; Vol. 11 (6), pp. e2151. Date of Electronic Publication: 2023 Feb 09.
Publication Type:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Colorectal Neoplasms, Hereditary Nonpolyposis*/diagnosis
Colorectal Neoplasms, Hereditary Nonpolyposis*/genetics
Colorectal Neoplasms, Hereditary Nonpolyposis*/metabolism
Humans ; Base Sequence ; Introns ; MutL Protein Homolog 1/genetics ; MutL Protein Homolog 1/metabolism
Academic Journal
Title:
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.
Authors:
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.
Show more
Source:
Clinical epigenetics [Clin Epigenetics] 2023 Jun 03; Vol. 15 (1), pp. 95. Date of Electronic Publication: 2023 Jun 03.
Publication Type:
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
Academic Journal
Title:
A tumor focused approach to resolving the etiology of DNA mismatch repair deficient tumors classified as suspected Lynch syndrome.
Authors:
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. .
Show more
Corporate Authors:
Family Cancer Clinics of Australia
Source:
Journal of translational medicine [J Transl Med] 2023 Apr 26; Vol. 21 (1), pp. 282. Date of Electronic Publication: 2023 Apr 26.
Publication Type:
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
Academic Journal
Title:
High concordance rate of capillary electrophoresis workflow for microsatellite instability analysis and mismatch repair (MMR) immunostaining in colorectal carcinoma.
Authors:
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.
Show more
Source:
PloS one [PLoS One] 2023 Apr 25; Vol. 18 (4), pp. e0284227. Date of Electronic Publication: 2023 Apr 25 (Print Publication: 2023).
Publication Type:
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
Academic Journal
Title:
Association of MLH1-93G>A polymorphisms toward lung cancer susceptibility and its association with clinical outcome in North Indian patients treated with platinum-based chemotherapy.
Authors:
Singh S; Department of Biotechnology, Thapar Institute of Engineering and Technology, Patiala, Punjab, India.
Singh N; Department of Pulmonary Medicine, Post Graduate Institute of Medical Education and Research, Chandigarh, India.
Baranwal M; Department of Biotechnology, Thapar Institute of Engineering and Technology, Patiala, Punjab, India.
Sharma S; Department of Biotechnology, Thapar Institute of Engineering and Technology, Patiala, Punjab, India.
Show more
Source:
Journal of cancer research and therapeutics [J Cancer Res Ther] 2023 Apr; Vol. 19 (Supplement), pp. S0.
Publication Type:
Journal Article
MeSH Terms:
Platinum*/therapeutic use
Lung Neoplasms*/drug therapy
Lung Neoplasms*/genetics
Lung Neoplasms*/pathology
Female ; Humans ; Docetaxel ; Polymorphism, Single Nucleotide ; Cisplatin ; Genotype ; Antineoplastic Combined Chemotherapy Protocols/therapeutic use ; MutL Protein Homolog 1/genetics
Academic Journal
Title:
Lynch syndrome-associated repeated stroke with MLH1 frame-shift mutation.
Authors:
Zhang M; Department of Neurology, Xiangya Hospital of Central South University, Changsha, 410008, Hunan, China.
Yang H; Department of Neurology, Xiangya Hospital of Central South University, Changsha, 410008, Hunan, China.
Chen Z; Department of Neurology, Xiangya Hospital of Central South University, Changsha, 410008, Hunan, China.
Fan Y; Department of Neurology, Xiangya Hospital of Central South University, Changsha, 410008, Hunan, China.
Hu X; Department of Neurology, Xiangya Hospital of Central South University, Changsha, 410008, Hunan, China.
Liu W; Department of Neurology, Xiangya Hospital of Central South University, Changsha, 410008, Hunan, China. .
Show more
Source:
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology [Neurol Sci] 2021 Apr; Vol. 42 (4), pp. 1631-1635. Date of Electronic Publication: 2021 Jan 12.
Publication Type:
Case Reports; Journal Article
MeSH Terms:
Colorectal Neoplasms, Hereditary Nonpolyposis*/complications
Colorectal Neoplasms, Hereditary Nonpolyposis*/diagnostic imaging
Colorectal Neoplasms, Hereditary Nonpolyposis*/genetics
MutL Protein Homolog 1*/genetics
Stroke*
Adult ; DNA Mismatch Repair ; Female ; Genetic Predisposition to Disease ; Humans ; Mutation
Academic Journal
Title:
Identification of a novel pathogenic MLH1 mutation and recommended genetic screening strategy: An investigation of three Chinese Lynch syndrome pedigrees.
Authors:
Li F; Department of General Surgery, The Second Affiliated Hospital, Nanjing Medical University, Nanjing, China.
Xia Y; Department of General Surgery, The Second Affiliated Hospital, Nanjing Medical University, Nanjing, China.
Wang G; Department of General Surgery, The Second Affiliated Hospital, Nanjing Medical University, Nanjing, China.
Tang C; Department of General Surgery, The Second Affiliated Hospital, Nanjing Medical University, Nanjing, China.
Zhan T; Department of General Surgery, The Second Affiliated Hospital, Nanjing Medical University, Nanjing, China.
Shen J; Department of General Surgery, The Second Affiliated Hospital, Nanjing Medical University, Nanjing, China.
Zhang J; Department of General Surgery, The Second Affiliated Hospital, Nanjing Medical University, Nanjing, China.
Show more
Source:
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2020 Aug; Vol. 8 (8), pp. e1295. Date of Electronic Publication: 2020 Jun 03.
Publication Type:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Colorectal Neoplasms, Hereditary Nonpolyposis/*genetics
Genetic Testing/*methods
MutL Protein Homolog 1/*genetics
Cells, Cultured ; China ; Colorectal Neoplasms, Hereditary Nonpolyposis/diagnosis ; Genetic Testing/standards ; Humans ; Loss of Function Mutation ; MutL Protein Homolog 1/chemistry ; MutL Protein Homolog 1/metabolism ; Pedigree ; Protein Domains ; RNA Stability
Academic Journal
Title:
Germline Variants in MLH1 and ATM Genes in a Young Patient with MSI-H in a Precancerous Colonic Lesion.
Authors:
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.
Show more
Source:
International journal of molecular sciences [Int J Mol Sci] 2023 Mar 22; Vol. 24 (6). Date of Electronic Publication: 2023 Mar 22.
Publication Type:
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
Report
Title:
Characterization of a germline variant MSH6 c.4001G > C in a Lynch syndrome family.
Authors:
Yang C; Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, New York, USA.
Misyura M; Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, New York, USA.
Kane S; Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, New York, USA.
Rai V; Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, New York, USA.
Latham A; Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, New York, USA.
Zhang L; Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, New York, USA.; Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California, Los Angeles (UCLA), Los Angeles, California, USA.
Show more
Source:
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2023 Feb; Vol. 11 (2), pp. e2104. Date of Electronic Publication: 2023 Jan 24.
Publication Type:
Case Reports; Journal Article; Research Support, N.I.H., Extramural
MeSH Terms:
Colorectal Neoplasms, Hereditary Nonpolyposis*/genetics
Endometrial Neoplasms*/genetics
Neoplastic Syndromes, Hereditary*
Humans ; Female ; Middle Aged ; MutS Homolog 2 Protein/genetics ; DNA-Binding Proteins/genetics ; MutL Protein Homolog 1/genetics ; Germ Cells/pathology
Academic Journal

We use cookies to help identify your computer so we can tailor your user experience, track shopping basket contents and remember where you are in the order process.