Breast and colorectal cancer risks among over 6,000 CHEK2 pathogenic variant carriers: A comparison of missense versus truncating variants.

Erin Mundt,Brent Mabey,Irene Rainville,Charite Ricker,Nanda Singh,Anna Gardiner,Susan Manley,Thomas Slavin

Cancer genetics（2023）

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摘要

In our large cohort, CHEK2 truncating and missense PVs conferred similar risks for breast cancer and did not seem to elevate risk for colorectal cancer.

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关键词

CHEK2,Pathogenic variant,Missense variants,Truncating variants

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