As more women are being counseled and tested, clinicians increasingly encounter women with identified BRCA1 and BRCA2 gene mutations. Existing, albeit limited, data indicate that risks of breast cancer are not increased with use of systemic hormone therapy by menopausal BRCA mutation carriers with intact breasts. Young mutation carriers with or without intact breasts should not defer or avoid r...

The Fanconi anemia/BRCA (FA/BRCA) pathway is a DNA repair pathway that is required for excision of DNA interstrand cross-links. The 17 known FA proteins, along with several FA-associated proteins (FAAPs), cooperate in this pathway to detect, unhook, and excise DNA cross-links and to subsequently repair the double-strand breaks generated in the process. In the current study, we identified a pati...

BACKGROUND Germline pathogenic variants in BRCA1 and BRCA2 (BRCA) are the main cause of Hereditary Breast and Ovarian Cancer syndrome (HBOC). METHODS In this study we evaluated the mutational profile and prevalence of BRCA pathogenic/likely pathogenic variants among probands fulfilling the NCCN HBOC testing criteria. We characterized the clinical profile of these individuals and explored the ...

UNLABELLED Approximately 12% of the U.S. population is Hispanic, with the majority residing in urban centers such as Los Angeles. The prevalence of BRCA mutations among high-risk Hispanic families is unknown. METHODS One hundred and ten unrelated probands of Hispanic origin, with a personal or family history of breast and/or ovarian cancer, presented for genetic cancer risk assessment, were e...

PURPOSE/OBJECTIVES To describe the experiences of women who accessed the Facing Our Risk of Cancer Empowered (FORCE) Web site after learning of a family BRCA1 or BRCA2 mutation. RESEARCH APPROACH Interpretive phenomenology based on Heideggerian hermeneutics. SETTING Telephone interviews of women living in the United States who accessed FORCE. PARTICIPANTS A purposive sample of eight women...

PURPOSE Mutations in BRCA genes are the main cause of hereditary breast cancer in Korea. The aim of this study was to investigate the characteristics of breast cancers involving BRCA1 (BRCA1 group) and BRCA2 (BRCA2 group) mutations. METHODS We retrospectively reviewed the medical records of patients with BRCA1 (BRCA1 group) or BRCA2 (BRCA2 group) mutation positive breast cancer from multiple ...