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Tytuł:
Variants of cancer susceptibility genes in Korean BRCA1/2 mutation-negative patients with high risk for hereditary breast cancer.
Autorzy:
Park JS; Hereditary Cancer Clinic, Cancer Prevention Center, Yonsei Cancer Center, Yonsei University College of Medicine, Seoul, Republic of Korea.
Lee ST; Hereditary Cancer Clinic, Cancer Prevention Center, Yonsei Cancer Center, Yonsei University College of Medicine, Seoul, Republic of Korea.; Department of Laboratory Medicine, Yonsei University College of Medicine, Seoul, Republic of Korea.
Nam EJ; Hereditary Cancer Clinic, Cancer Prevention Center, Yonsei Cancer Center, Yonsei University College of Medicine, Seoul, Republic of Korea.; Department of Obstetrics and Gynecology, Institute of Women's Life Medical Science, Women's Cancer Clinic, Yonsei University College of Medicine, Seoul, Republic of Korea.
Han JW; Hereditary Cancer Clinic, Cancer Prevention Center, Yonsei Cancer Center, Yonsei University College of Medicine, Seoul, Republic of Korea.; Department of Pediatrics, Yonsei University College of Medicine, Seoul, Republic of Korea.
Lee JY; Hereditary Cancer Clinic, Cancer Prevention Center, Yonsei Cancer Center, Yonsei University College of Medicine, Seoul, Republic of Korea.; Department of Obstetrics and Gynecology, Institute of Women's Life Medical Science, Women's Cancer Clinic, Yonsei University College of Medicine, Seoul, Republic of Korea.
Kim J; Department of Laboratory Medicine, Soonchunhyang University School of Medicine, Seoul, Republic of Korea.
Kim TI; Hereditary Cancer Clinic, Cancer Prevention Center, Yonsei Cancer Center, Yonsei University College of Medicine, Seoul, Republic of Korea.; Division of Gastroenterology, Department of Internal Medicine, Yonsei University College of Medicine, Seoul, Republic of Korea.
Park HS; Hereditary Cancer Clinic, Cancer Prevention Center, Yonsei Cancer Center, Yonsei University College of Medicine, Seoul, Republic of Korea. .; Department of Surgery, Yonsei University College of Medicine, 50-1 Yonsei-ro, Seodaemun-gu, Seoul, 03722, Republic of Korea. .
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Źródło:
BMC cancer [BMC Cancer] 2018 Jan 16; Vol. 18 (1), pp. 83. Date of Electronic Publication: 2018 Jan 16.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
BRCA1 Protein/*genetics
BRCA2 Protein/*genetics
Breast Neoplasms/*diagnosis
Hereditary Breast and Ovarian Cancer Syndrome/*diagnosis
Adult ; Aged ; Breast Neoplasms/epidemiology ; Breast Neoplasms/genetics ; Breast Neoplasms/pathology ; Fanconi Anemia Complementation Group N Protein/genetics ; Fanconi Anemia Complementation Group Proteins/genetics ; Female ; Genetic Predisposition to Disease ; Germ-Line Mutation/genetics ; Hereditary Breast and Ovarian Cancer Syndrome/epidemiology ; Hereditary Breast and Ovarian Cancer Syndrome/genetics ; Humans ; MRE11 Homologue Protein/genetics ; Middle Aged ; RNA Helicases/genetics ; Risk Factors ; Tumor Suppressor Protein p53/genetics ; Tumor Suppressor Proteins/genetics ; Ubiquitin-Protein Ligases/genetics
SCR Disease Name:
Breast Cancer, Familial
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Germline EMSY sequence alterations in hereditary breast cancer and ovarian cancer families.
Autorzy:
Määttä KM; Institute of Biosciences and Medical Technology - BioMediTech, University of Tampere, Lääkärinkatu 1, FI-33520, Tampere, Finland.; Fimlab Laboratories, Tampere University Hospital, Biokatu 4, FI-33520, Tampere, Finland.
Nurminen R; Institute of Biosciences and Medical Technology - BioMediTech, University of Tampere, Lääkärinkatu 1, FI-33520, Tampere, Finland.; Fimlab Laboratories, Tampere University Hospital, Biokatu 4, FI-33520, Tampere, Finland.
Kankuri-Tammilehto M; Department of Clinical Genetics, Turku University Hospital, Kiinamyllynkatu 4-8, FI-20521, Turku, Finland.
Kallioniemi A; Institute of Biosciences and Medical Technology - BioMediTech, University of Tampere, Lääkärinkatu 1, FI-33520, Tampere, Finland.
Laasanen SL; Department of Pediatrics, Genetics Outpatient Clinic, and Department of Dermatology, Tampere UniversityHospital, PO BOX 2000, FI-33521, Tampere, Finland.; Department of Dermatology, Tampere University Hospital, PO BOX 2000, FI-33521, Tampere, Finland.
Schleutker J; Institute of Biosciences and Medical Technology - BioMediTech, University of Tampere, Lääkärinkatu 1, FI-33520, Tampere, Finland. .; Fimlab Laboratories, Tampere University Hospital, Biokatu 4, FI-33520, Tampere, Finland. .; Institute of Biomedicine, University of Turku, Kiinamyllynkatu 10, FI-20014, Turku, Finland. .; Department of Medical Genetics, Turku University Hospital, Kiinamyllynkatu 10, FI-20521, Turku, Finland. .
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Źródło:
BMC cancer [BMC Cancer] 2017 Jul 24; Vol. 17 (1), pp. 496. Date of Electronic Publication: 2017 Jul 24.
Typ publikacji:
Journal Article
MeSH Terms:
Genetic Predisposition to Disease*
Germ-Line Mutation*
Hereditary Breast and Ovarian Cancer Syndrome/*metabolism
Neoplasm Proteins/*genetics
Nuclear Proteins/*genetics
Repressor Proteins/*genetics
Adult ; DNA Mutational Analysis ; Female ; Finland ; Genetic Association Studies ; Genotyping Techniques ; Haplotypes ; Hereditary Breast and Ovarian Cancer Syndrome/genetics ; Humans ; Middle Aged
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Elevated Bone Turnover Markers after Risk-Reducing Salpingo-Oophorectomy in Women at Increased Risk for Breast and Ovarian Cancer.
Autorzy:
Fakkert IE; Department of Epidemiology, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.
van der Veer E; Department of Laboratory Medicine, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.
Abma EM; Division of Geriatric Medicine, Department of Internal Medicine, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.
Lefrandt JD; Division of Vascular Medicine, Department of Internal Medicine, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.
Wolffenbuttel BH; Department of Endocrinology, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.
Oosterwijk JC; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.
Slart RH; Department of Nuclear Medicine and Molecular Imaging, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.; Department of Biomedical Photonic Imaging, University of Twente, Enschede, The Netherlands.
Westrik IG; Division of Vascular Medicine, Department of Internal Medicine, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.
de Bock GH; Department of Epidemiology, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.
Mourits MJ; Department of Gynecology, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.
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Źródło:
PloS one [PLoS One] 2017 Jan 06; Vol. 12 (1), pp. e0169673. Date of Electronic Publication: 2017 Jan 06 (Print Publication: 2017).
Typ publikacji:
Journal Article
MeSH Terms:
Ovariectomy*
Salpingectomy*
Bone and Bones/*metabolism
Hereditary Breast and Ovarian Cancer Syndrome/*etiology
Hereditary Breast and Ovarian Cancer Syndrome/*metabolism
Adult ; Aged ; Biomarkers ; Bone Resorption/metabolism ; Collagen Type I/metabolism ; Female ; Hereditary Breast and Ovarian Cancer Syndrome/epidemiology ; Humans ; Middle Aged ; Osteocalcin/metabolism ; Peptide Fragments/metabolism ; Peptides/metabolism ; Procollagen/metabolism ; Risk Factors ; Risk Reduction Behavior
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
The experience of women carriers of BRCA mutations following risk-reducing surgery: A cultural perspective.
Autorzy:
Mahat-Shamir M; a School of Social Work, Ariel University , Ariel , Israel.
Possick C; a School of Social Work, Ariel University , Ariel , Israel.
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Źródło:
Health care for women international [Health Care Women Int] 2017 Apr; Vol. 38 (4), pp. 344-360. Date of Electronic Publication: 2016 Dec 07.
Typ publikacji:
Journal Article
MeSH Terms:
Cultural Characteristics*
Judaism*
Cancer Survivors/*psychology
Hereditary Breast and Ovarian Cancer Syndrome/*psychology
Adult ; Body Image ; Breast Neoplasms/prevention & control ; Decision Making ; Female ; Genes, BRCA1 ; Genes, BRCA2 ; Guilt ; Hereditary Breast and Ovarian Cancer Syndrome/surgery ; Heterozygote ; Humans ; Israel ; Mastectomy/psychology ; Middle Aged ; Mutation ; Ovarian Neoplasms/prevention & control ; Ovariectomy/psychology ; Qualitative Research
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Detection of Germline Variants in 450 Breast/Ovarian Cancer Families with a Multi-Gene Panel Including Coding and Regulatory Regions.
Autorzy:
Guglielmi C; SOD Molecular Genetics, University Hospital of Pisa, 56126 Pisa, Italy.
Scarpitta R; Division of Pathology, University of Pisa, 56126 Pisa, Italy.
Gambino G; Department of Clinical and Experimental Medicine, University of Pisa, 56126 Pisa, Italy.
Conti E; SOD Molecular Genetics, University Hospital of Pisa, 56126 Pisa, Italy.
Bellè F; Functional Genetics and Genomics Laboratory, Institute of Clinical Physiology, IFC-CNR, 56127 Pisa, Italy.
Tancredi M; SOD Molecular Genetics, University Hospital of Pisa, 56126 Pisa, Italy.
Cervelli T; Functional Genetics and Genomics Laboratory, Institute of Clinical Physiology, IFC-CNR, 56127 Pisa, Italy.
Falaschi E; SOD Molecular Genetics, University Hospital of Pisa, 56126 Pisa, Italy.
Cosini C; SOD Molecular Genetics, University Hospital of Pisa, 56126 Pisa, Italy.
Aretini P; Section of Oncological Genomics, Fondazione Pisana per la Scienza, 56017 Pisa, Italy.
Congregati C; Division of Internal Medicine, University Hospital of Pisa, 56126 Pisa, Italy.
Marino M; Department of Life Sciences, University of Modena and Reggio Emilia, 41125 Modena, Italy.
Patruno M; IRCCS Istituto Tumori 'Giovanni Paolo II', 70124 Bari, Italy.
Pilato B; IRCCS Istituto Tumori 'Giovanni Paolo II', 70124 Bari, Italy.
Spina F; SC Medical Genetics, ASSL Cagliari, 09126 Cagliari, Italy.
Balestrino L; SC Medical Genetics, ASSL Cagliari, 09126 Cagliari, Italy.
Tenedini E; Department of Life Sciences, University of Modena and Reggio Emilia, 41125 Modena, Italy.
Carnevali I; Ospedale di Circolo ASST Settelaghi, 21100 Varese, Italy.
Cortesi L; Department of Oncology, Haematology and Respiratory Diseases, University Hospital of Modena, 41124 Modena, Italy.
Tagliafico E; Department of Life Sciences, University of Modena and Reggio Emilia, 41125 Modena, Italy.
Tibiletti MG; Ospedale di Circolo ASST Settelaghi, 21100 Varese, Italy.
Tommasi S; IRCCS Istituto Tumori 'Giovanni Paolo II', 70124 Bari, Italy.
Ghilli M; Breast Cancer Center, University Hospital, 56126 Pisa, Italy.
Vivanet C; SC Medical Genetics, ASSL Cagliari, 09126 Cagliari, Italy.
Galli A; Functional Genetics and Genomics Laboratory, Institute of Clinical Physiology, IFC-CNR, 56127 Pisa, Italy.
Caligo MA; SOD Molecular Genetics, University Hospital of Pisa, 56126 Pisa, Italy.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2021 Jul 19; Vol. 22 (14). Date of Electronic Publication: 2021 Jul 19.
Typ publikacji:
Journal Article
MeSH Terms:
Hereditary Breast and Ovarian Cancer Syndrome/*genetics
Adult ; Age of Onset ; Cohort Studies ; Female ; Genes, BRCA1 ; Genes, BRCA2 ; Genetic Predisposition to Disease ; Genetic Variation ; Germ-Line Mutation ; Humans ; Italy ; Middle Aged ; PTEN Phosphohydrolase/genetics ; Penetrance ; Regulatory Sequences, Nucleic Acid
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Changes of Socio-demographic data of clients seeking genetic counseling for hereditary breast and ovarian cancer due to the "Angelina Jolie Effect".
Autorzy:
Staudigl C; Department of Obstetrics and Gynecology, Division of Senology, Comprehensive Cancer Center, Medical University of Vienna, Waehringer Guertel 18-20, 1090, Vienna, Austria.; Department of Obstetrics and Gynecology, Hospital of the Sisters of Charity Linz, 4020, Linz, Austria.
Pfeiler G; Department of Obstetrics and Gynecology, Division of Senology, Comprehensive Cancer Center, Medical University of Vienna, Waehringer Guertel 18-20, 1090, Vienna, Austria.
Hrauda K; Department of Obstetrics and Gynecology, Division of Senology, Comprehensive Cancer Center, Medical University of Vienna, Waehringer Guertel 18-20, 1090, Vienna, Austria.
Renz R; Department of Obstetrics and Gynecology, Division of Senology, Comprehensive Cancer Center, Medical University of Vienna, Waehringer Guertel 18-20, 1090, Vienna, Austria.
Berger A; Department of Obstetrics and Gynecology, Division of Senology, Comprehensive Cancer Center, Medical University of Vienna, Waehringer Guertel 18-20, 1090, Vienna, Austria.
Lichtenschopf R; Department of Obstetrics and Gynecology, Division of Senology, Comprehensive Cancer Center, Medical University of Vienna, Waehringer Guertel 18-20, 1090, Vienna, Austria.
Singer CF; Department of Obstetrics and Gynecology, Division of Senology, Comprehensive Cancer Center, Medical University of Vienna, Waehringer Guertel 18-20, 1090, Vienna, Austria.
Tea MK; Department of Obstetrics and Gynecology, Division of Senology, Comprehensive Cancer Center, Medical University of Vienna, Waehringer Guertel 18-20, 1090, Vienna, Austria. .
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Źródło:
BMC cancer [BMC Cancer] 2016 Jul 08; Vol. 16, pp. 436. Date of Electronic Publication: 2016 Jul 08.
Typ publikacji:
Comparative Study; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Genetic Counseling*
Breast Neoplasms/*genetics
Hereditary Breast and Ovarian Cancer Syndrome/*genetics
Adult ; Austria ; Breast Neoplasms/diagnosis ; DNA Mutational Analysis ; Demography ; Educational Status ; Famous Persons ; Female ; Genes, BRCA1 ; Genes, BRCA2 ; Hereditary Breast and Ovarian Cancer Syndrome/diagnosis ; Humans ; Male ; Middle Aged
SCR Disease Name:
Breast Cancer, Familial
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Investigating the causal role of MRE11A p.E506* in breast and ovarian cancer.
Autorzy:
Elkholi IE; Montreal Clinical Research Institute (IRCM), Montreal, QC, Canada.; Molecular Biology Programs, Université de Montréal, Montreal, QC, Canada.
Di Iorio M; Gerald Bronfman Department of Oncology, McGill University, Montreal, QC , Canada.; Department of Human Genetics, McGill University, Montreal, Canada.; Lady Davis Institute, The Jewish General Hospital, Montreal, Canada.
Fahiminiya S; Cancer Research Program, The Research Institute of the McGill University Health Centre, Montreal, Canada.
Arcand SL; Cancer Research Program, The Research Institute of the McGill University Health Centre, Montreal, Canada.
Han H; Molecular Mechanisms and Experimental Therapy in Oncology Program, Bellvitge Biomedical Research Institute (IDIBELL), L'Hospitalet de Llobregat, 3a planta/Gran Via de l'Hospitalet, 199-203, 08908, Barcelona, Spain.
Nogué C; Molecular Mechanisms and Experimental Therapy in Oncology Program, Bellvitge Biomedical Research Institute (IDIBELL), L'Hospitalet de Llobregat, 3a planta/Gran Via de l'Hospitalet, 199-203, 08908, Barcelona, Spain.
Behl S; Department of Human Genetics, McGill University, Montreal, Canada.; Department of Pediatric and Adolescent Medicine, Children's Research Center, Mayo Clinic, Rochester, USA.
Hamel N; Cancer Research Program, The Research Institute of the McGill University Health Centre, Montreal, Canada.
Giroux S; Centre de Recherche du Centre Hospitalier, Universitaire de Québec, Québec City, QC, Canada.
de Ladurantaye M; Centre de Recherche du Centre Hospitalier de L'Université de Montréal and Institut du Cancer de Montréal, Montreal, QC, Canada.
Aleynikova O; Department of Pathology, Jewish General Hospital, Montreal, Canada.
Gotlieb WH; Division of Gynecologic Oncology, Jewish General Hospital, McGill University, Montreal, QC, Canada.; Segal Cancer Center, Lady Davis Institute of Medical Research, McGill University, Montreal, QC, Canada.
Côté JF; Montreal Clinical Research Institute (IRCM), Montreal, QC, Canada.; Molecular Biology Programs, Université de Montréal, Montreal, QC, Canada.; Department of Anatomy and Cell Biology, McGill University, Montréal, QC, Canada.; Department of Medicine, Université de Montréal, Montréal, QC, Canada.
Rousseau F; Centre de Recherche du Centre Hospitalier, Universitaire de Québec, Québec City, QC, Canada.
Tonin PN; Department of Human Genetics, McGill University, Montreal, Canada.; Cancer Research Program, The Research Institute of the McGill University Health Centre, Montreal, Canada.; Department of Medicine, McGill University, Montreal, Canada.
Provencher D; Centre de Recherche du Centre Hospitalier de L'Université de Montréal and Institut du Cancer de Montréal, Montreal, QC, Canada.; Division of Gynecologic Oncology, Université de Montréal, Montreal, Canada.
MesMasson AM; Centre de Recherche du Centre Hospitalier de L'Université de Montréal and Institut du Cancer de Montréal, Montreal, QC, Canada.; Department of Medicine, Université de Montréal, Montréal, QC, Canada.
Akbari MR; Dalla Lana School of Public Health, University of Toronto, Toronto, Canada.; Women's College Research Institute, Women's College Hospital, Toronto, Canada.
Rivera B; Gerald Bronfman Department of Oncology, McGill University, Montreal, QC , Canada. .; Lady Davis Institute, The Jewish General Hospital, Montreal, Canada. .; Molecular Mechanisms and Experimental Therapy in Oncology Program, Bellvitge Biomedical Research Institute (IDIBELL), L'Hospitalet de Llobregat, 3a planta/Gran Via de l'Hospitalet, 199-203, 08908, Barcelona, Spain. .
Foulkes WD; Gerald Bronfman Department of Oncology, McGill University, Montreal, QC , Canada.; Department of Human Genetics, McGill University, Montreal, Canada.; Lady Davis Institute, The Jewish General Hospital, Montreal, Canada.; Cancer Research Program, The Research Institute of the McGill University Health Centre, Montreal, Canada.
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Źródło:
Scientific reports [Sci Rep] 2021 Jan 28; Vol. 11 (1), pp. 2409. Date of Electronic Publication: 2021 Jan 28.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Genetic Predisposition to Disease*
Mutation*
Breast Neoplasms/*genetics
MRE11 Homologue Protein/*genetics
Ovarian Neoplasms/*genetics
Adult ; Alleles ; Breast Neoplasms/diagnosis ; DNA Mutational Analysis ; Female ; Germ-Line Mutation ; Hereditary Breast and Ovarian Cancer Syndrome/genetics ; Humans ; MRE11 Homologue Protein/metabolism ; Ovarian Neoplasms/diagnosis ; Pedigree ; Quebec ; Exome Sequencing
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Novel candidates of pathogenic variants of the BRCA1 and BRCA2 genes from a dataset of 3,552 Japanese whole genomes (3.5KJPNv2).
Autorzy:
Tokunaga H; Department of Obstetrics and Gynecology, Tohoku University Graduate School of Medicine, Sendai, Japan.; Advanced Research Center for Innovations in Next-Generation Medicine, Tohoku University, Sendai, Japan.
Iida K; Tohoku Medical Megabank Organization, Tohoku University, Sendai, Japan.; Laboratory of Cell Systems, Institute for Protein Research, Osaka University, Suita, Osaka, Japan.
Hozawa A; Tohoku Medical Megabank Organization, Tohoku University, Sendai, Japan.
Ogishima S; Advanced Research Center for Innovations in Next-Generation Medicine, Tohoku University, Sendai, Japan.; Tohoku Medical Megabank Organization, Tohoku University, Sendai, Japan.
Watanabe Y; Department of Obstetrics and Gynecology, Tohoku Medical and Pharmaceutical University, Sendai, Japan.
Shigeta S; Department of Obstetrics and Gynecology, Tohoku University Graduate School of Medicine, Sendai, Japan.
Shimada M; Department of Obstetrics and Gynecology, Tohoku University Graduate School of Medicine, Sendai, Japan.; Advanced Research Center for Innovations in Next-Generation Medicine, Tohoku University, Sendai, Japan.
Yamaguchi-Kabata Y; Tohoku Medical Megabank Organization, Tohoku University, Sendai, Japan.
Tadaka S; Tohoku Medical Megabank Organization, Tohoku University, Sendai, Japan.
Katsuoka F; Tohoku Medical Megabank Organization, Tohoku University, Sendai, Japan.; Department of Medical Biochemistry, Tohoku University Graduate School of Medicine, Sendai, Japan.
Ito S; Tohoku Medical Megabank Organization, Tohoku University, Sendai, Japan.; Department of Applied Information Sciences, Graduate School of Information Sciences, Tohoku University, Sendai, Japan.; Division of Molecular and Cellular Oncology, Miyagi Cancer Center Research Institute, Natori, Miyagi, Japan.
Kumada K; Advanced Research Center for Innovations in Next-Generation Medicine, Tohoku University, Sendai, Japan.; Tohoku Medical Megabank Organization, Tohoku University, Sendai, Japan.
Hamanaka Y; Tohoku Medical Megabank Organization, Tohoku University, Sendai, Japan.
Fuse N; Tohoku Medical Megabank Organization, Tohoku University, Sendai, Japan.
Kinoshita K; Advanced Research Center for Innovations in Next-Generation Medicine, Tohoku University, Sendai, Japan.; Tohoku Medical Megabank Organization, Tohoku University, Sendai, Japan.; Department of Applied Information Sciences, Graduate School of Information Sciences, Tohoku University, Sendai, Japan.; Division of Molecular and Cellular Oncology, Miyagi Cancer Center Research Institute, Natori, Miyagi, Japan.; Institute of Development, Aging, and Cancer, Tohoku University, Sendai, Japan.
Yamamoto M; Advanced Research Center for Innovations in Next-Generation Medicine, Tohoku University, Sendai, Japan.; Tohoku Medical Megabank Organization, Tohoku University, Sendai, Japan.; Department of Medical Biochemistry, Tohoku University Graduate School of Medicine, Sendai, Japan.
Yaegashi N; Department of Obstetrics and Gynecology, Tohoku University Graduate School of Medicine, Sendai, Japan.; Tohoku Medical Megabank Organization, Tohoku University, Sendai, Japan.
Yasuda J; Tohoku Medical Megabank Organization, Tohoku University, Sendai, Japan.; Department of Applied Information Sciences, Graduate School of Information Sciences, Tohoku University, Sendai, Japan.; Division of Molecular and Cellular Oncology, Miyagi Cancer Center Research Institute, Natori, Miyagi, Japan.
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Źródło:
PloS one [PLoS One] 2021 Jan 11; Vol. 16 (1), pp. e0236907. Date of Electronic Publication: 2021 Jan 11 (Print Publication: 2021).
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
BRCA1 Protein/*genetics
BRCA2 Protein/*genetics
Breast Neoplasms/*genetics
Adult ; Alleles ; BRCA1 Protein/metabolism ; BRCA2 Protein/metabolism ; Breast Neoplasms/epidemiology ; Cohort Studies ; Databases, Genetic ; Female ; Gene Frequency/genetics ; Genes, BRCA1 ; Genes, BRCA2/physiology ; Genetic Predisposition to Disease/genetics ; Genetic Testing/methods ; Germ-Line Mutation/genetics ; Hereditary Breast and Ovarian Cancer Syndrome/pathology ; Heterozygote ; Humans ; Japan/epidemiology ; Middle Aged ; Mutation/genetics ; Ovarian Neoplasms/pathology ; Prospective Studies ; Whole Genome Sequencing/methods
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Evaluating the role of NTHL1 p.Q90* allele in inherited breast cancer predisposition.
Autorzy:
Kumpula T; Laboratory of Cancer Genetics and Tumor Biology, University of Oulu, Oulu, Finland.
Tervasmäki A; Laboratory of Cancer Genetics and Tumor Biology, University of Oulu, Oulu, Finland.
Mantere T; Laboratory of Cancer Genetics and Tumor Biology, University of Oulu, Oulu, Finland.; Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands.
Koivuluoma S; Laboratory of Cancer Genetics and Tumor Biology, University of Oulu, Oulu, Finland.
Huilaja L; Department of Dermatology and Medical Research Center Oulu, PEDEGO Research Unit, University of Oulu, Oulu University Hospital, Oulu, Finland.
Tasanen K; Department of Dermatology and Medical Research Center Oulu, PEDEGO Research Unit, University of Oulu, Oulu University Hospital, Oulu, Finland.
Winqvist R; Laboratory of Cancer Genetics and Tumor Biology, University of Oulu, Oulu, Finland.
de Voer RM; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, Netherlands.
Pylkäs K; Laboratory of Cancer Genetics and Tumor Biology, University of Oulu, Oulu, Finland.
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Źródło:
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2020 Nov; Vol. 8 (11), pp. e1493. Date of Electronic Publication: 2020 Sep 19.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Codon, Nonsense*
Gene Frequency*
Genetic Predisposition to Disease*
Deoxyribonuclease (Pyrimidine Dimer)/*genetics
Hereditary Breast and Ovarian Cancer Syndrome/*genetics
BRCA1 Protein/genetics ; BRCA2 Protein/genetics ; ErbB Receptors/genetics ; Fanconi Anemia Complementation Group N Protein/genetics ; Heterozygote ; Humans ; Pedigree
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Identifying Ashkenazi Jewish BRCA1/2 founder variants in individuals who do not self-report Jewish ancestry.
Autorzy:
Tennen RI; 23andMe, Inc., 223 N Mathilda Ave, Sunnyvale, CA, 94086, USA.
Laskey SB; 23andMe, Inc., 223 N Mathilda Ave, Sunnyvale, CA, 94086, USA.
Koelsch BL; 23andMe, Inc., 223 N Mathilda Ave, Sunnyvale, CA, 94086, USA.
McIntyre MH; 23andMe, Inc., 223 N Mathilda Ave, Sunnyvale, CA, 94086, USA.
Tung JY; 23andMe, Inc., 223 N Mathilda Ave, Sunnyvale, CA, 94086, USA. .
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Źródło:
Scientific reports [Sci Rep] 2020 May 06; Vol. 10 (1), pp. 7669. Date of Electronic Publication: 2020 May 06.
Typ publikacji:
Journal Article
MeSH Terms:
Founder Effect*
Genetic Variation*
BRCA1 Protein/*genetics
BRCA2 Protein/*genetics
Jews/*genetics
Adolescent ; Adult ; Aged ; Aged, 80 and over ; Female ; Genetic Association Studies ; Genetic Predisposition to Disease ; Genetic Testing ; Hereditary Breast and Ovarian Cancer Syndrome/epidemiology ; Hereditary Breast and Ovarian Cancer Syndrome/genetics ; Hereditary Breast and Ovarian Cancer Syndrome/prevention & control ; Humans ; Male ; Middle Aged ; Self Report ; Young Adult
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Screening of BRCA1/2 genes mutations and copy number variations in patients with high risk for hereditary breast and ovarian cancer syndrome (HBOC).
Autorzy:
El Ansari FZ; Biomedical Genomics and Oncogenetics Research Laboratory, Faculty of Sciences and Techniques of Tangier, University Abdelmalek Essaâdi, 90000, Tangier, Morocco. .; Molecular Biology Department, ANOUAL Laboratory, Casablanca, Morocco. .
Jouali F; Molecular Biology Department, ANOUAL Laboratory, Casablanca, Morocco.
Marchoudi N; Molecular Biology Department, ANOUAL Laboratory, Casablanca, Morocco.
Bennani MM; Biomedical Genomics and Oncogenetics Research Laboratory, Faculty of Sciences and Techniques of Tangier, University Abdelmalek Essaâdi, 90000, Tangier, Morocco.
Ghailani NN; Biomedical Genomics and Oncogenetics Research Laboratory, Faculty of Sciences and Techniques of Tangier, University Abdelmalek Essaâdi, 90000, Tangier, Morocco.
Barakat A; Biomedical Genomics and Oncogenetics Research Laboratory, Faculty of Sciences and Techniques of Tangier, University Abdelmalek Essaâdi, 90000, Tangier, Morocco.
Fekkak J; Molecular Biology Department, ANOUAL Laboratory, Casablanca, Morocco.
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Źródło:
BMC cancer [BMC Cancer] 2020 Aug 10; Vol. 20 (1), pp. 747. Date of Electronic Publication: 2020 Aug 10.
Typ publikacji:
Journal Article
MeSH Terms:
DNA Copy Number Variations*
Genes, BRCA1*
Genes, BRCA2*
Mutation*
Hereditary Breast and Ovarian Cancer Syndrome/*genetics
Adult ; Female ; High-Throughput Nucleotide Sequencing ; Humans ; Middle Aged ; Morocco ; Young Adult
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Hereditary breast and ovarian cancer: assessment of point mutations and copy number variations in Brazilian patients.
Autorzy:
Silva FC
Lisboa BC
Figueiredo MC
Torrezan GT
Santos EM
Krepischi AC
Rossi BM
Achatz MI
Carraro DM; Laboratory of Genomics and Molecular Biology, CIPE - A, C, Camargo Cancer Center, São Paulo, Brazil. .
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Źródło:
BMC medical genetics [BMC Med Genet] 2014 May 15; Vol. 15, pp. 55. Date of Electronic Publication: 2014 May 15.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
DNA Copy Number Variations*
Point Mutation*
Hereditary Breast and Ovarian Cancer Syndrome/*genetics
Adult ; Aged ; Aged, 80 and over ; Alternative Splicing ; Amino Acid Sequence ; Brazil ; Checkpoint Kinase 2/genetics ; Comparative Genomic Hybridization ; DNA Mutational Analysis ; Exons ; Female ; Gene Dosage ; Genes, BRCA1 ; Genes, BRCA2 ; Genetic Predisposition to Disease ; Germ-Line Mutation ; Hereditary Breast and Ovarian Cancer Syndrome/epidemiology ; Heterozygote ; Humans ; Middle Aged ; Molecular Sequence Data ; Mutation Rate ; RNA Splice Sites ; Transcription, Genetic ; Tumor Suppressor Protein p53/genetics ; Young Adult
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Parental disclosure of positive BRCA1/2 mutation status to children 10 years after genetic testing.
Autorzy:
Troïan J; Aix-Marseille Université, LPS EA 849 , Aix en Provence, France.; Aix Marseille Univ, INSERM, IRD, SESSTIM, Sciences Economiques & Sociales de la Santé & Traitement de l'Information Médicale , Marseille, France.
Apostolidis T; Aix-Marseille Université, LPS EA 849 , Aix en Provence, France.
Touzani R; Aix Marseille Univ, INSERM, IRD, SESSTIM, Sciences Economiques & Sociales de la Santé & Traitement de l'Information Médicale , Marseille, France.
Mouret-Fourme E; Department of Genetics, Institut Curie , Paris, France.
Stoppa-Lyonnet D; Department of Genetics, Institut Curie , Paris, France.; Institut Curie, INSERM U830 , Paris, France.; Université Paris Descartes, Sorbonne Paris Cité.
Lasset C; Département de Santé Publique, Centre Léon Bérard , Lyon, France.; CNRS UMR 5558, Laboratoire de Biométrie et Biologie Evolutive Lyon , France.; Université de Lyon , Lyon, France.
Berthet P; Centre François Baclesse , Caen, France.
Julian-Reynier C; Aix Marseille Univ, INSERM, IRD, SESSTIM, Sciences Economiques & Sociales de la Santé & Traitement de l'Information Médicale , Marseille, France.; Institut Paoli-Calmettes, UMR1252 , Marseille, France.
Mancini J; Aix Marseille Univ, INSERM, IRD, SESSTIM, Sciences Economiques & Sociales de la Santé & Traitement de l'Information Médicale , Marseille, France.; APHM, Hôpital de la Timone, Service Biostatistique et Technologies de l'Information et de la Communication , Marseille, France.
Noguès C; Aix-Marseille Université, LPS EA 849 , Aix en Provence, France.; Département d'Anticipation et de Suivi des Cancers, Oncogénétique clinique, Institut Paoli-Calmettes , Marseille, France.
Bouhnik AD; Aix Marseille Univ, INSERM, IRD, SESSTIM, Sciences Economiques & Sociales de la Santé & Traitement de l'Information Médicale , Marseille, France.
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Źródło:
Psychology, health & medicine [Psychol Health Med] 2020 Jul; Vol. 25 (6), pp. 756-766. Date of Electronic Publication: 2019 Sep 11.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Disclosure*
Mutation*
Parents*
Hereditary Breast and Ovarian Cancer Syndrome/*genetics
Adolescent ; Adult ; Adult Children ; Aged ; Child ; Cohort Studies ; Female ; France ; Genes, BRCA1 ; Genes, BRCA2 ; Genetic Testing ; Humans ; Male ; Middle Aged ; Ovariectomy ; Prophylactic Mastectomy ; Prophylactic Surgical Procedures ; Sex Factors ; Young Adult
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Genetic cancer risk assessment: A screenshot of the psychosocial profile of women at risk for hereditary breast and ovarian cancer syndrome.
Autorzy:
Campacci N; Molecular Oncology Research Center, Barretos Cancer Hospital, Barretos, Brazil.
de Campos Reis Galvão H; Oncogenetics Department, Barretos Cancer Hospital, Barretos, Brazil.
Garcia LF; Programa de Pós-Graduação em Promoção da Saúde, Centro Universitário Cesumar, Maringá, Brazil.
Ribeiro PC; Oncogenetics Department, Barretos Cancer Hospital, Barretos, Brazil.
Grasel RS; Molecular Oncology Research Center, Barretos Cancer Hospital, Barretos, Brazil.
Goldim JR; Programa de Pós-Graduação em Genéticae Biologia Molecular (PPGBM), Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, Brazil.
Ashton-Prolla P; Programa de Pós-Graduação em Genéticae Biologia Molecular (PPGBM), Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, Brazil.; Laboratório de Medicina Genômica, Centro de Pesquisa Experimental, Hospital de Clínicas de Porto Alegre (HCPA), Porto Alegre, Brazil.; Serviço de Genética Médica, Hospital de Clínicas de Porto Alegre (HCPA), Porto Alegre, Brazil.
Palmero EI; Molecular Oncology Research Center, Barretos Cancer Hospital, Barretos, Brazil.; Programa de Pós-Graduação em Genéticae Biologia Molecular (PPGBM), Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, Brazil.; Barretos School of Health Sciences, Dr. Paulo Prata - FACISB, Sao Paolo, Brazil.
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Źródło:
Psycho-oncology [Psychooncology] 2020 Apr; Vol. 29 (4), pp. 681-687. Date of Electronic Publication: 2020 Feb 06.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Adaptation, Psychological*
Genetic Testing*
Risk Assessment*
Social Support*
Hereditary Breast and Ovarian Cancer Syndrome/*psychology
Adult ; Brazil ; Cross-Sectional Studies ; Female ; Humans ; Middle Aged ; Young Adult
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Wyświetlanie 21-40 z 399

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