Assessing the Genetic Risk for BRCA-Related Breast or Ovarian Cancer in Women: Recommendations From the U.S. Preventive Services Task Force
S'appuyant entre autres sur une revue systématique de la littérature publiée jusqu'en juillet 2013, un groupe d'experts américains ("U.S. Preventive Services Task Force") présente une mise à jour de ses recommandations concernant l'évaluation du risque de cancer familial du sein ou de l'ovaire, l'indication des consultations de conseil génétique et des tests de détection de mutations du gène BRCA1 ou BRCA2
The U.S. Preventive Services Task Force (USPSTF) is a group of physicians and other health care experts that makes recommendations about preventive health care.
Many women with breast cancer have first-degree (mother, sister, or daughter) or second-degree (aunt) relatives with breast cancer. Mutations in 2 genes increase risk for breast and ovarian cancer: breast cancer susceptibility genes 1 and 2 (BRCA1 and BRCA2). These mutations are more common in certain ethnic groups, such as Ashkenazi Jewish people. However, not all women with a family history of breast or ovarian cancer have 1 of these mutations, and not all women with 1 of these mutations will develop cancer. Genetic testing could identify women who should consider procedures to reduce cancer risk (intensive screening; medication; or surgical removal of breasts, ovaries, or both). However, because not all women who have a BRCA mutation develop cancer, identification of mutations may also needlessly expose women to anxiety or unnecessary procedures...
Annals of Internal Medicine , résumé, 2012