Abstract
A substantial proportion of women who undergo BRCA1/2 testing learn that they carry a variant of uncertain significance[...]
Highlights
5% –15% of all ovarian cancers are due to inherited predisposition
This study examined clinical histories, ethnicity, and test results from a cohort of 15,083 individuals who underwent mgpt of up to 20 genes (ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, MLH1, MRE11A, MSH2, MSH6, NBN, NF1, PALB2, PMS2, PTEN, RAD50, RAD51C, RAD51D, TP53) using the BreastNext and OvaNext panels
We identified 11 methylation sites that might contain heritable epimutations associated with breast cancer
Summary
5% –15% of all ovarian cancers are due to inherited predisposition. risk-reducing salpingo-oophorectomy (rrso) is recommended and is often performed before natural menopause, e285it leads to a direct onset of menopause and may be accompanied by significant menopausal symptoms and sexual dysfunction. We used a synthetic model approach based on results from segregation analyses of families in the United Kingdom together with risk estimates derived from large studies of European populations Under this model, the predicted average breast cancer risk for an unaffected 20-year-old by age 80 for a CHEK2 mutation carrier is 30%, 28% for ATM, 50% for PALB2, 74% for BRCA1 and BRCA2. Genetic testing for hereditary breast and ovarian cancer is evolving with the introduction of multigene panels, and yet questions remain about these new tests Most importantly, do these tests affect clinical management despite the increased uncertainty that naturally follows from testing more genes in more patients? (Deidentified data from patients in this study has been contributed to the ClinVar database.) 1 Desmond A, Kurian AW, et al Clinical actionability of multigene panel testing for hereditary breast and ovarian cancer risk assessment. We propose that until such data become available, ocs patients be considered for BRCA1/2 testing even in the absence of other BRCA-associated cancer family history
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