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| Item Type: | Article |
|---|---|
| Title: | Prevalence of cancer predisposition germline variants in male breast cancer patients: results of the German Consortium for Hereditary Breast and Ovarian Cancer |
| Creators Name: | Rolfes, M. and Borde, J. and Möllenhoff, K. and Kayali, M. and Ernst, C. and Gehrig, A. and Sutter, C. and Ramser, J. and Niederacher, D. and Horváth, J. and Arnold, N. and Meindl, A. and Auber, B. and Rump, A. and Wang-Gohrke, S. and Ritter, J. and Hentschel, J. and Thiele, H. and Altmüller, J. and Nürnberg, P. and Rhiem, K. and Engel, C. and Wappenschmidt, B. and Schmutzler, R.K. and Hahnen, E. and Hauke, J. |
| Abstract: | Male breast cancer (mBC) is associated with a high prevalence of pathogenic variants (PVs) in the BRCA2 gene; however, data regarding other BC predisposition genes are limited. In this retrospective multicenter study, we investigated the prevalence of PVs in BRCA1/2 and 23 non-BRCA1/2 genes using a sample of 614 patients with mBC, recruited through the centers of the German Consortium for Hereditary Breast and Ovarian Cancer. A high proportion of patients with mBC carried PVs in BRCA2 (23.0%, 142/614) and BRCA1 (4.6%, 28/614). The prevalence of BRCA1/2 PVs was 11.0% in patients with mBC without a family history of breast and/or ovarian cancer. Patients with BRCA1/2 PVs did not show an earlier disease onset than those without. The predominant clinical presentation of tumor phenotypes was estrogen receptor (ER)-positive, progesterone receptor (PR)-positive, and HER2-negative (77.7%); further, 10.2% of the tumors were triple-positive, and 1.2% were triple-negative. No association was found between ER/PR/HER2 status and BRCA1/2 PV occurrence. Comparing the prevalence of protein-truncating variants (PTVs) between patients with mBC and control data (ExAC, n = 27,173) revealed significant associations of PTVs in both BRCA1 and BRCA2 with mBC (BRCA1: OR = 17.04, 95% CI = 10.54-26.82, p < 10(-5); BRCA2: OR = 77.71, 95% CI = 58.71-102.33, p < 10(-5)). A case-control investigation of 23 non-BRCA1/2 genes in 340 BRCA1/2-negative patients and ExAC controls revealed significant associations of PTVs in CHEK2, PALB2, and ATM with mBC (CHEK2: OR = 3.78, 95% CI = 1.59-7.71, p = 0.002; PALB2: OR = 14.77, 95% CI = 5.02-36.02, p < 10(-5); ATM: OR = 3.36, 95% CI = 0.89-8.96, p = 0.04). Overall, our findings support the benefit of multi-gene panel testing in patients with mBC irrespective of their family history, age at disease onset, and tumor phenotype. |
| Keywords: | Breast Neoplasms, Male Breast Cancer, Breast Cancer Predisposition Genes, Genetic Testing, Familial Breast Cancer |
| Source: | Cancers |
| ISSN: | 2072-6694 |
| Publisher: | MDPI |
| Volume: | 14 |
| Number: | 13 |
| Page Range: | 3292 |
| Date: | 5 July 2022 |
| Official Publication: | https://doi.org/10.3390/cancers14133292 |
| PubMed: | View item in PubMed |
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