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Challenges in Interpreting Germline Mutations in BARD1 and ATM in Breast and Ovarian Cancer Patients |
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| Authors: | Kimberly DeLeonardis MS Kristin Sedgwick MS Olga Voznesensky MS Ellen Matloff MS Erin Hofstatter MD Steven Balk MD PhD Nadine Tung MD |
| Affiliation: | 1. Division of Hematology‐Oncology, Beth‐Israel Deaconess Medical Center, Boston, Massachusetts;2. Cancer Genetic Counseling Program, Yale Cancer Center/Yale School of Medicine, New Haven, Connecticut;3. Division of Medical Oncology, Yale Cancer Center/Yale School of Medicine, New Haven, Connecticut |
| Abstract: | Next‐generation sequencing promotes identification of mutations in non‐BRCA1/2 genes in hereditary cancer families. The contribution of mutations in moderate penetrance genes to hereditary cancer risk is not well established. Here, we report a family with early onset breast and fallopian tube cancer that was identified as carrying germline mutations in BARD1 and ATM genes. Loss of heterozygosity studies suggest a causative role of the BARD1 mutation in the development of primary peritoneal cancer, but fail to confirm an association between germline ATM mutations and breast cancer development in this family. Complexities in interpreting implications of mutations in moderate‐risk cancer susceptibility genes are discussed. |
| Keywords: | ATM BARD1 breast cancer ovarian cancer primary peritoneal cancer |