Individuals with &ITFANCM&IT biallelic mutations do not develop Fanconi anemia, but show risk for breast cancer, chemotherapy toxicity and may display chromosome fragility

Catucci, I; Osorio, A; Arver, B; Neidhardt, G; Bogliolo, M; Zanardi, F; Riboni, M; Minardi, S; Pujol, R; Azzollini, J; Peissel, B; Manoukian, S; De Vecchi, G; Casola, S; Hauke, J; Richters, L; Rhiem, K; Schmutzler, RK; Wallander, K; Torngren, T; Borg

Peterlongo, P (reprint author), FIRC Inst Mol Oncol, IFOM, Genome Diagnost Program, Milan, Italy.

GENETICS IN MEDICINE, 2018; 20 (4): 452

Abstract

Purpose: Monoallelic germ-line mutations in the BRCA1/FANCS, BRCA2/FANCD1 and PALB2/FANCN genes confer high risk of breast cancer. Biallelic mutations......

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