Clinical and molecular features associated with biallelic mutations in FANCD1/BRCA2.

@article{Alter2007ClinicalAM,
  title={Clinical and molecular features associated with biallelic mutations in FANCD1/BRCA2.},
  author={Blanche P Alter and Philip S. Rosenberg and Lawrence C. Brody},
  journal={Journal of medical genetics},
  year={2007},
  volume={44 1},
  pages={1-9}
}
Patients with biallelic mutations in BRCA2 are in Fanconi anaemia group D1. We analysed the severity of the mutations in 27 cases, classified according to their association with breast cancer in heterozygotes, and their predicted functional effect. Twenty mutations were frameshifts or truncations, three involved splice sites, five were missense variants of unknown severity and two were benign polymorphisms. Five patients had VACTERL-H association. Leukaemia was reported in 13 patients, and… CONTINUE READING