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Targeted sequencing of BRCA1 and BRCA2 across a large unselected breast cancer cohort suggests that one-third of mutations are somatic
| Content Provider | Semantic Scholar |
|---|---|
| Author | Winter, C. Nilsson, Martín Persson Olsson, E. George, Akhila Mariam Chen, Yongmei Kvist, Anders Törngren, Therese Vallon-Christersson, Johan Hegardt, Cecilia Häkkinen, Jari Jönsson, Göran Grabau, Dorthe Malmberg, Martin Kristoffersson, Ulf Rehn, Martin Gruvberger-Saal, Sofia K. Larsson, Catharina Borg, Åke Loman, Niklas Saal, Lao H. |
| Copyright Year | 2016 |
| Abstract | BACKGROUND A mutation found in the BRCA1 or BRCA2 gene of a breast tumor could be either germline or somatically acquired. The prevalence of somatic BRCA1/2 mutations and the ratio between somatic and germline BRCA1/2 mutations in unselected breast cancer patients are currently unclear. PATIENTS AND METHODS Paired normal and tumor DNA was analyzed for BRCA1/2 mutations by massively parallel sequencing in an unselected cohort of 273 breast cancer patients from south Sweden. RESULTS Deleterious germline mutations in BRCA1 (n = 10) or BRCA2 (n = 10) were detected in 20 patients (7%). Deleterious somatic mutations in BRCA1 (n = 4) or BRCA2 (n = 5) were detected in 9 patients (3%). Accordingly, about 1 in 9 breast carcinomas (11%) in our cohort harbor a BRCA1/2 mutation. For each gene, the tumor phenotypes were very similar regardless of the mutation being germline or somatically acquired, whereas the tumor phenotypes differed significantly between wild-type and mutated cases. For age at diagnosis, the patients with somatic BRCA1/2 mutations resembled the wild-type patients (median age at diagnosis, germline BRCA1: 41.5 years; germline BRCA2: 49.5 years; somatic BRCA1/2: 65 years; wild-type BRCA1/2: 62.5 years). CONCLUSIONS In a population without strong germline founder mutations, the likelihood of a BRCA1/2 mutation found in a breast carcinoma being somatic was ∼1/3 and germline 2/3. This may have implications for treatment and genetic counseling. |
| Starting Page | 1532 |
| Ending Page | 1538 |
| Page Count | 7 |
| File Format | PDF HTM / HTML |
| DOI | 10.1093/annonc/mdw209 |
| PubMed reference number | 27194814 |
| Journal | Medline |
| Volume Number | 27 |
| Alternate Webpage(s) | https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/b2/ea/mdw209.PMC4959927.pdf |
| Alternate Webpage(s) | https://doi.org/10.1093/annonc%2Fmdw209 |
| Journal | Annals of oncology : official journal of the European Society for Medical Oncology |
| Language | English |
| Access Restriction | Open |
| Content Type | Text |
| Resource Type | Article |
