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Identifying sequence variants contributing to hereditary breast and ovarian cancer in BRCA1 and BRCA2 negative breast and ovarian cancer patients

Permanent lenke
https://hdl.handle.net/10037/17238
DOI
https://doi.org/10.1038/s41598-019-55515-x
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Åpne
article.pdf (1.368Mb)
Publisert versjon (PDF)
Dato
2019-12-27
Type
Journal article
Tidsskriftartikkel
Peer reviewed

Forfatter
Jarhelle, Elisabeth; Stensland, Hilde Monica Frostad Riise; Hansen, Geir Åsmund Myge; Skarsfjord, Siri; Jonsrud, Christoffer; Ingebrigtsen, Monica; Strømsvik, Nina; Van Ghelue, Marijke
Sammendrag
Families with breast and ovarian cancer are often tested for disease associated sequence variants in BRCA1 and BRCA2. Pathogenic sequence variants (PVs) in these two genes are known to increase breast and ovarian cancer risks in females. However, in most families no PVs are detected in these two genes. Currently, several studies have identified other genes involved in hereditary breast and ovarian cancer (HBOC). To identify genetic risk factors for breast and ovarian cancer in a Norwegian HBOC cohort, 101 breast and/or ovarian cancer patients negative for PVs and variants of unknown clinical significance (VUS) in BRCA1/2 were screened for PVs in 94 genes using next-generation sequencing. Sixteen genes were closely scrutinized. Nine different deleterious germline PVs/likely pathogenic variants (LPVs) were identified in seven genes in 12 patients: three in ATM, and one in CHEK2, ERCC5, FANCM, RAD51C, TP53 and WRN. Additionally, 32 different VUSs were identified and these require further characterization. For carriers of PV/LPV in many of these genes, there are no national clinical management programs in Norway. The diversity of genetic risk factors possibly involved in cancer development show the necessity for more knowledge to improve the clinical follow-up of this genetically diverse patient group.
Forlag
Nature Research
Sitering
Jarhelle E, Stensland HMFR, Hansen GÅM, Skarsfjord, Jonsrud C, Ingebrigtsen M, Strømsvik N, Van Ghelue GM. Identifying sequence variants contributing to hereditary breast and ovarian cancer in BRCA1 and BRCA2 negative breast and ovarian cancer patients. Scientific Reports. 2019;9(1)
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  • Artikler, rapporter og annet (klinisk medisin) [1974]
Copyright 2019 The Author(s)

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