Genotype in BRCA‐associated Breast Cancers. Issue 1 (10th December 2012)

• Record Type: Journal Article
• Authors: Meric‐Bernstam, Funda; Gutierrez‐Barrera, Angelica M.; Litton, Jennifer; Mellor‐Crummey, Lauren; Ready, Kaylene; Gonzalez‐Angulo, Ana Maria; Lu, Karen H.; Hortobagyi, Gabriel N.; Arun, Banu K.
• Is Part Of: Breast journal. Volume 19:Issue 1(2013:Jan./Feb.)
• Page Start: 87
• Page End: 91
• Publication Date: 2012-12-10
• Subjects: Breast -- Diseases -- Periodicals; Breast -- Cancer -- Periodicals; 618.19
• DOI: 10.1111/tbj.12056
• Languages: English
• ISSNs: 1075-122X

Abstract

<abstract abstract-type="main" id="tbj12056-abs-0001"> <title>Abstract</title> <p>Women with <italic>BRCA1 or 2</italic> mutations are at high risk for breast cancer. For <italic>BRCA1</italic>, a trend of increasing risk has been associated with increasing downstream (3′) location for mutations compared to the upstream (5′) mutations in the gene. For <italic>BRCA2</italic>, an increased risk of breast cancer has been associated with mutations outside of the ovarian cancer cluster region (OCCR). We sought to determine the mutation position in <italic>BRCA</italic>‐associated breast cancers and whether or not there was a genotype‐phenotype correlation. Breast cancer patients with <italic>BRCA1/2</italic> mutations were identified by a search of a prospectively maintained data base. Mutation site, patient, and tumor characteristics were determined through retrospective review. One hundred and sixty‐four patients with <italic>BRCA1</italic>‐associated breast cancer and 109 patients with <italic>BRCA2</italic>‐associated breast cancer were identified. Among patients with <italic>BRCA1</italic>‐associated cancers, 86 (52%) had mutations in the 5′ half of the gene. Among patients with <italic>BRCA2</italic>‐associated breast cancers, 40 (37%) had OCCR mutations. Although <italic>BRCA1</italic>‐associated tumors were more likely to be ER/PR‐ than <italic>BRCA2</italic>‐associated cancers (p < 0.0001), there was no difference in the tumor characteristics among <italic>BRCA1</italic> or <italic>BRCA2</italic>‐associated cancers based on mutation location. In this single‐institution study, over half of <italic>BRCA1</italic>‐associated and over a third of <italic>BRCA2</italic>‐associated breast cancers were associated with putative lower risk mutations. Although we cannot exclude the possibility that mutations in these regions confer a lower relative risk for breast cancer, vigilance in cancer screening and prevention remains necessary. Further studies in genotype/phenotype correlation are needed to individualize prevention strategies.</p> </abstract>