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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 Toland
Published in: medRxiv : the preprint server for health sciences (2023)
mutations and GOF mutations. Larger multi-ancestry studies are needed to confirm these findings and determine if these variants contribute to ancestry-specific differences in mutation frequency.
Keyphrases
  • copy number
  • genome wide
  • dna methylation
  • dna repair
  • gene expression
  • estrogen receptor