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Hereditary Risk of Breast and Ovarian Carcinoma: The Role of the Oncologist

Myriad Genetic Laboratories, Salt Lake City, Utah, USA

Correspondence: Thomas S. Frank, M.D., Myriad Genetic Laboratories, 320 Wakara Way, Salt Lake City, Utah 84108, USA. Telephone: 801-584-3531; Fax: 801-584-3515; e-mail: tfrank{at}myriad.com

The American Society of Clinical Oncology has affirmed the role of clinical oncologists in identifying and managing patients with familial cancer risk. Inherited mutations in the genes BRCA1 and BRCA2 are responsible for the majority of hereditary breast and ovarian cancers, and these mutations also increase the risk of second cancers in women already diagnosed with breast malignancy. Understanding the likelihood of breast and ovarian cancer associated with mutations in BRCA1 and BRCA2 begins with consideration of the biological basis of hereditary cancer risk. Identifying patients with hereditary risk requires documentation of appropriate family history, and recent studies have characterized criteria for identifying women most likely to have inherited mutations in these genes. Options for women with inherited mutations in BRCA1 and BRCA2 include surveillance, chemoprevention and prophylactic surgery, which must be considered separately for the management of the risk of breast cancer and of ovarian cancer. Knowledge of the hallmarks of hereditary risk, options for medical intervention, possible results of BRCA1 and BRCA2 laboratory analysis and the psychological concerns of patients about hereditary risk evaluation enables oncologists and other health care providers to effectively counsel and manage women with hereditary risk of breast and ovarian cancer.

Key Words. Breast • Ovary • Cancer • BRCA1 • BRCA2 • Hereditary

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