Points to consider: is there evidence to support BRCA1/2 and other inherited breast cancer genetic testing for all breast cancer patients ? A statement of the American College of Medical Genetics and Genomics (ACMG)
Cet article analyse l'intérêt de généraliser les tests de recherche de mutations génétiques constitutionnelles à l'ensemble des patientes atteintes d'un cancer du sein
Of all cancers that develop in women in the United States, breast cancer has the highest incidence, regardless of race or ethnicity, with an estimated 271,270 new cases and 42,260 deaths during 2019.1 Approximately 5–10% of breast cancers are estimated to result from hereditary causes, the majority of which are attributed to pathogenic or likely pathogenic (P/LP) variants in the BRCA1 and BRCA2 (BRCA1/2) genes, although other variants in genes such as PALB2, TP53, PTEN, CDH1, CHEK2, and ATM contribute.2 Identification of inherited cancer risk empowers individuals and their families to prevent cancers or detect them early. Furthermore, incorporating genetic testing results into patients' care plans has the potential to guide treatment and improve outcomes.
Genetics in Medicine , article en libre accès, 2019