Authors' recommendations: Hereditary breast and ovarian cancer (HBOC), which is characterized by a significantly increased risk for breast and ovarian malignancies, is typically caused by pathogenic variants in one of the breast cancer susceptibility genes, BRCA1 and BRCA2. BRCA1 (located on chromosome 17 at band q21) and BRCA2 (located on chromosome 13 at band q12.3) are categorized as tumor suppressor genes and encode proteins that function in the repair of DNA damage. It is estimated that approximately 3% to 5% of breast cancer cases, and up to 10% of ovarian cancer cases, result from variants in one of these two genes. Overall, it is estimated that 1 in 300 to 1 in 800 individuals in the general population carry a deleterious BRCA1/2 gene variant. However, the prevalence of BRCA1/2 gene variants is much higher in certain ethnic groups, such as the Ashkenazi Jewish (AJ) population, which has a carrier frequency of 1 in 40. BRCA1/2 gene testing may involve testing for specific variants (ethnic group–specific or known familial variants), an analysis of the BRCA1 and BRCA2 gene sequences, and/or testing for large genomic rearrangements. Possible test results include a positive result (i.e., a pathogenic variant is detected), a negative result (i.e., no pathogenic variant is detected), or a variant of unknown clinical significance. It is also possible to have an uninformative negative result if the tested individual has no history of cancer and has no family member with a known, pathogenic BRCA1/2 variant. Therefore, it is generally recommended that an affected individual be tested before any unaffected family members seeking predisposition testing. For those who are found to carry a disease-causing BRCA1/2 gene variant, options include extensive surveillance programs to screen for breast and ovarian cancer (and prostate cancer in carrier men), prophylactic mastectomy and salpingo-oophorectomy, and chemoprevention.

Project Status: Completed

Year Published: 2013

URL for published report: The report may be purchased from: http://www.hayesinc.com/hayes/crd/?crd=14585

English language abstract: An English language summary is available

Publication Type: Not Assigned

Country: United States

Organisation Name: HAYES, Inc.

Contact Address: 157 S. Broad Street, Suite 200, Lansdale, PA 19446, USA. Tel: 215 855 0615; Fax: 215 855 5218

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Contact Email: saleinfo@hayesinc.com

Copyright: 2013 Winifred S. Hayes, Inc