Data on the prevalence of pathogenic variants (PV) in breast cancer susceptibility genes among postmenopausal women, published in a research letter in JAMA, suggest that PV prevalence among this population may be high enough to warrant testing even in the absence of early diagnosis age or family history.1
Researchers suggested that these finding should inform testing guidelines, as currently most guidelines don’t address testing postmenopausal women with breast cancer in the absence of other risk factors.
“There’s been a lot of controversy in the field as to whether every woman with breast cancer should receive genetic testing, in part because we didn’t know how prevalent cancer-associated mutations are in this largest subgroup of newly diagnosed people – that is, women who develop breast cancer after menopause without the presence of any known hereditary risk…
