Spectrum of mutations in BRCA1, BRCA2, CHEK2, and TP53 in families at high risk of breast cancer
ContextGenetic testing for inherited mutations in BRCA1 and BRCA2 has become integral to
the care of women with a severe family history of breast or ovarian cancer, but an unknown
number of patients receive negative (ie, wild-type) results when they actually carry a
pathogenic BRCA1 or BRCA2 mutation. Furthermore, other breast cancer genes generally
are not evaluated. ObjectiveTo determine the frequency and types of undetected cancer-
predisposing mutations in BRCA1, BRCA2, CHEK2, TP53, and PTEN among patients with …
the care of women with a severe family history of breast or ovarian cancer, but an unknown
number of patients receive negative (ie, wild-type) results when they actually carry a
pathogenic BRCA1 or BRCA2 mutation. Furthermore, other breast cancer genes generally
are not evaluated. ObjectiveTo determine the frequency and types of undetected cancer-
predisposing mutations in BRCA1, BRCA2, CHEK2, TP53, and PTEN among patients with …