Evaluating the role of NTHL1 p.Q90* allele in inherited breast cancer predisposition.
Timo KumpulaAnna TervasmäkiTuomo MantereSusanna KoivuluomaLaura HuilajaKaisa TasanenRobert WinqvistRicharda M de VoerKatri PylkäsPublished in: Molecular genetics & genomic medicine (2020)
Our results indicate that NTHL1 p.Q90* heterozygous carriers do not have an increased risk for breast cancer and that the variant is unlikely to be a significant contributor to breast cancer risk at the population level.