Is there a Genetic Link between Lynch Syndrome and Breast Cancer?
BACKGROUND AND PURPOSE:
Lynch syndrome (LS) is associated with several cancer types, including colon and ovarian cancer in women (see ‘Related ObG Topics for more clinical and genetic information on LS)
Studies on LS and breast cancer association have been conflicting
Roberts et al. (Genetics in Medicine, 2017) sought to determine if there is an association between (LS) and breast cancer
Retrospective review of personal and family history with pathogenic or likely pathogenic germ-line variants in
Mutations were identified using multigene hereditary cancer testing
Standard incidence ratios (SIRs) were calculated by comparing the number of observed cancers to the number of expected cancers based on breast cancer incidence in the general population
Data was collected from 423 women
Age-standardized breast cancer risks
MSH6: Statistically significant increased SIR 2.11; 95% CI 1.56–2.86
PMS2: Statistically significant increased SIR 2.92; 95% CI, 2.17–3.92
There was no association observed for MLH1 or MSH2
Overall, breast cancer risk was twofold higher in the LS cohort but only in 2 genes, MSH6 (31.1% cumulative risk for breast cancer by age 60) and PMS2 (37.7% cumulative risk for breast cancer by age 60)
Women with pathogenic variants in MSH6 and PMS2 have a modest but statistically increased risk of breast cancer and may benefit from increased surveillance for breast cancer
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