Germline variants of Brazilian women with breast cancer and detection of a novel pathogenic ATM deletion in early-onset breast cancer.
Gabriel Bandeira do CarmoKatia RochaMonize LazarSuzana EzquinaGuilherme YamamotoMonica VarelaVanessa TakahashiMeire AguenaThomaz GollopMayana ZatzMaria Rita Passos-BuenoAna KrepischiOswaldo Keith OkamotoPublished in: Breast cancer (Tokyo, Japan) (2020)
Our findings contribute to the characterization of the genetic background of breast cancer predisposition in the Brazilian population as a useful resource to discriminate between deleterious variants and VUS, thus enabling improvement in the preventive health care and clinical management of carriers.