Article
TP53 missense allele predisposing to high risk of breast cancer but not pediatric cancers.
Journal of the National Cancer Institute - 1 May 2025
Lolas-Hamameh Suhair, Lieberman Sari, Sarahneh Alaa, Walsh Tom, Lee Ming K, Gulsuner Suleyman, Rabie Grace, Beeri Rachel, Aburayyan Amal, Mandell Jessica B, Fridman Hila, Lazer-Derbeko Galit, Klopstock Tehila, Freireich Orit, Lahad Amnon, King Mary-Claire, Levy-Lahad Ephrat, Kanaan Moien N
Abstract excerpt
Pathogenic TP53 germline variants cause young-onset breast cancer and other cancers of the Li-Fraumeni syndrome (LFS) spectrum, but the clinical consequences of partial-loss-of function TP53 variants are incompletely understood. In the consecutive cohort of Palestinian breast cancer patients of the Middle East Breast Cancer Study (MEBCS), breast cancer risk among TP53 p.R181C heterozygotes was 50% by age 50 years...
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