Nijole P Tjader, Abigail J Beer, Johnny Ramroop, Mei-Chee Tai, Jie Ping, Tanish Gandhi, Cara Dauch, Susan L Neuhausen, Elad Ziv, Nereida Sotelo, Shreya Ghanekar, Owen Meadows, Monica Paredes, Jessica Gillespie, Amber Aeilts, Heather Hampel, Wei Zheng, Guochong Jia, Qiang Hu, Lei Wei, Song Liu, Christine B Ambrosone, Julie R Palmer, John D Carpten, Song Yao, Patrick Stevens, Weang-Kee Ho, Jia Wern Pan, Paolo Fadda, Dezheng Huo, Soo-Hwang Teo, Joseph Paul McElroy, Amanda Ewart Toland
BACKGROUND: In breast tumors, somatic mutation frequencies in TP53 and PIK3CA vary by tumor subtype and ancestry. HER2 positive and triple negative breast cancers (TNBC) have a higher frequency of TP53 somatic mutations than other subtypes. PIK3CA mutations are more frequently observed in hormone receptor positive tumors. 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...
December 6, 2023: medRxiv