
Genetic Testing May Benefit Older Women With Breast Cancer
The 2 main criteria that warrant genetic testing for breast cancer in women are age and having a family history of cancer. Postmenopausal women without any hereditary risk factors, however, often do not undergo genetic testing for the disease.
The 2 main criteria that warrant genetic testing for
“There’s been a lot of controversy in the field as to whether every woman with breast cancer should receive genetic testing,”
Through its
The breast cancer—associated genes most people tend to be familiar with are BRCA1 and BRCA2. The Stanford researchers, however, performed germline genetic testing (for inherited mutations) on the occurrence of pathogenic variants (PVs) in not only these genes, but 26 others as well, including ATM, CHEK2, PALB2, and BARD1. The women they studied did not have a family history of breast cancer but did (n = 2195; the study cohort) or did not (n = 2322; the control group) receive a diagnosis of invasive breast cancer as of September 20, 2017. The median ages were 73 and 81 years, respectively, at final follow-up.
Overall, PVs were found in 68% more women in the study cohort compared with the control group: 6.74% (95% CI, 5.73%-7.87%) versus 4.01% (95% CI, 3.24%-4.88%; P <.001), respectively. And for any breast cancer gene, PVs were found among the women with breast cancer at a rate that was more than twice that among the women without, at 3.55% (95% CI, 2.82%-4.42%) compared with 1.29% (95% CI, 0.87%-1.84%; P <.001). In addition, PVs for BRCA1 and BRCA2 totaled 2.21% (95% CI, 0.82%-4.76%) of those in the study cohort who received their diagnosis before age 65 and 1.09% (95% CI, 0.67%-1.68%) among those in this group older than 65 years.
“These data on the prevalence of PVs in breast cancer susceptibility genes among postmenopausal women should inform testing guidelines. Among postmenopausal patients with breast cancer, PV prevalence may be high enough to warrant testing even in the absence of early diagnosis age or family history,” they concluded.
The researchers recommend discussing possible risk factors for breast cancer among family members of women who undergo genetic testing post diagnosis and receive positive results. But they still caution that their results may not be generalizable to all women in the United States because participation in the Stanford Women’s Health Initiative is voluntary.
Reference
Kurian AW, Bernhisel R, Larson K, et al. Prevalence of pathogenic variants in cancer susceptibility genes among women with postmenopausal breast cancer. JAMA. 2020;323(10):995-997. doi: 10.1001/jama.2020.0229.
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