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Exome sequencing identifies HELB as a novel susceptibility gene for non-mucinous, non-high-grade-serous epithelial ovarian cancer
EM. Dicks, JP. Tyrer, S. Ezquina, M. Jones, J. Baierl, PC. Peng, M. Diaz, E. Goode, SJ. Winham, T. Dörk, TV. Gorp, A. Fazio, DDL. Bowtell, DW. Garsed, K. Odunsi, K. Moysich, M. Pavanello, F. Fostira, PM. Webb, J. Soukupová, PA. Cohen, W. Sieh,...
Jazyk angličtina Země Anglie, Velká Británie
Typ dokumentu časopisecké články
Grantová podpora
R00 CA256519
NCI NIH HHS - United States
R01 CA178535
NCI NIH HHS - United States
PRCPJT-May21\100006
Cancer Research UK (CRUK)
P30 CA015083
NCI NIH HHS - United States
R01 CA248288
NCI NIH HHS - United States
P50 CA136393
NCI NIH HHS - United States
- MeSH
- dospělí MeSH
- epiteliální ovariální karcinom * genetika patologie MeSH
- genetická predispozice k nemoci MeSH
- lidé středního věku MeSH
- lidé MeSH
- nádory vaječníků * genetika patologie MeSH
- sekvenování exomu MeSH
- senioři MeSH
- Check Tag
- dospělí MeSH
- lidé středního věku MeSH
- lidé MeSH
- senioři MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
Rare, germline loss-of-function variants in a handful of DNA repair genes are associated with epithelial ovarian cancer. The aim of this study was to evaluate the role of rare, coding, loss-of-function variants across the genome in epithelial ovarian cancer. We carried out a gene-by-gene burden test with various histotypes using data from 2573 non-mucinous cases and 13,923 controls. Twelve genes were associated at a False Discovery Rate of less than 0.1 of which seven were the known ovarian cancer susceptibility genes BRCA1, BRCA2, BRIP1, RAD51C, RAD51D, MSH6 and PALB2. The other five genes were OR2T35, HELB, MYO1A and GABRP which were associated with non-high-grade serous ovarian cancer and MIGA1 which was associated with high-grade serous ovarian cancer. Further support for the association of HELB association comes from the observation that loss-of-function variants in HELB are associated with age at natural menopause and Mendelian randomisation analysis shows an association between genetically predicted age at natural menopause and endometrioid ovarian cancer, but not high-grade serous ovarian cancer.
Adult Cancer Program Lowy Cancer Research Centre University of NSW Sydney NSW Australia
Center for Inherited Oncogenesis Department of Medicine UT Health San Antonio San Antonio Texas USA
Centre for Cancer Research The Westmead Institute for Medical Research Sydney NSW Australia
Department of Biomedical Sciences Cedars Sinai Medical Centre Los Angeles CA USA
Department of Computational Biomedicine Cedars Sinai Medical Centre Los Angeles CA USA
Department of Gynaecological Oncology Westmead Hospital Sydney NSW Australia
Department of Oncology University of Cambridge Cambridge UK
Department of Public Health and Primary Care University of Cambridge Cambridge UK
Department of Research Cancer Registry of Norway Norwegian Institute of Public Health Oslo Norway
Division of Cancer Epidemiology German Cancer Research Center Heidelberg Germany
Division of Cancer Prevention and Control Roswell Park Comprehensive Cancer Center Buffalo NY USA
Gynaecology Research Unit Hannover Medical School Hannover Germany
Human Molecular Genetics Laboratory National Centre for Scientific Research Athens Greece
MD Anderson Cancer Center Houston TX USA
Peter MacCallum Cancer Centre Melbourne VIC Australia
QIMR Berghofer Medical Research Institute Brisbane QLD Australia
School of Clinical Medicine Faculty of Medicine and Health University of NSW Sydney NSW Australia
Sir Peter MacCallum Department of Oncology The University of Melbourne Parkville VIC Australia
University of California Los Angeles Los Angeles CA USA
University of Chicago Medicine Comprehensive Cancer Center Chicago IL USA
Citace poskytuje Crossref.org
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