One in three highly selected Greek breast cancer patients carries a loss-of-function variant in a cancer susceptibility gene

Pathogenic variants in a number of genes, conferring high or moderate risks have been associated to hereditary breast cancer. Studying a highly selected cohort of 1,382 Greek breast cancer patients, 436 inherited pathogenic variants distributed in twenty-eight genes, have been identified. Beyond established associations, i.e. high breast cancer risk conferred by TP53 and PALB2 pathogenic variants, most importantly, novel associations involving RAD51C and missense CHEK2 damaging variants to moderate risk of breast cancer, emerged. Since gene panel testing is nowadays part of everyday clinical practice, these data can provide meaningful clinical changes for individualized patient management. (By Dr. Florentia Foster, https://jmg.bmj.com/content/early/2019/07/12/jmedgenet-2019-106189 )

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