Association of ESR1 Germline Variants with TP53 Somatic Variants in Breast Tumors in a Genome-wide Study.

doi:10.1158/2767-9764.CRC-24-0026

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Article

Association of ESR1 Germline Variants with TP53 Somatic Variants in Breast Tumors in a Genome-wide Study.

Cancer research communications - 27 Jun 2024

Tjader Nijole P, Beer Abigail J, Ramroop Johnny, Tai Mei-Chee, Ping Jie, Gandhi Tanish, Dauch Cara, Neuhausen Susan L, Ziv Elad, Sotelo Nereida, Ghanekar Shreya, Meadows Owen, Paredes Monica, Gillespie Jessica L, Aeilts Amber M, Hampel Heather, Zheng Wei, Jia Guochong, Hu Qiang, Wei Lei, Liu Song, Ambrosone Christine B, Palmer Julie R, Carpten John D, Yao Song, Stevens Patrick, Ho Weang-Kee, Pan Jia Wern, Fadda Paolo, Huo Dezheng, Teo Soo-Hwang, McElroy Joseph Paul, Toland Amanda E

Abstract excerpt

In breast tumors, somatic mutation frequencies in TP53 and PIK3CA vary by tumor subtype and ancestry. Emerging data suggest tumor mutation status is associated with germline variants and genetic ancestry. We aimed to identify germline variants that are associated with somatic TP53 or PIK3CA mutation status in breast tumors. A genome-wide association study was conducted in 2,850 women of European ancestry with...

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PMID: 38836758
DOI: 10.1158/2767-9764.CRC-24-0026
PMCID: PMC11210444

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