Association of ESR1 Germline Variants with TP53 Somatic Variants in Breast Tumors in a Genome-wide Study.
Nijole P TjaderAbigail J BeerJohnny RamroopMei Chee TaiJie PingTanish GandhiCara DauchSusan L NeuhausenElad ZivNereida SoteloShreya GhanekarOwen MeadowsMonica ParedesJessica L GillespieAmber M AeiltsHeather HampelQuan LongGuochong JiaQiang HuLei WeiSong LiuChristine B AmbrosoneJulie R PalmerJohn D CarptenSong YaoPatrick StevensWeang Kee HoJia Wern PanPaola FaddaDezheng HuoSoo-Hwang TeoJoseph Paul McElroyAmanda Ewart TolandPublished in: Cancer research communications (2024)
Emerging data show ancestry-specific differences in TP53 and PIK3CA mutation frequency in breast tumors suggesting that germline variants may influence somatic mutational processes. This study identified variants near ESR1 associated with TP53 mutation status and identified additional loci with suggestive association which may provide biological insight into observed differences.