BRCA1-, BRCA2-, and PALB2-related Fanconi anemia: Scope to expand disease phenotypic features and predict breast cancer risk in heterozygotes

The recessive Fanconi anemia phenotype is used to classify BRCA1, BRCA2, and PALB2 variants with respect to dominant hereditary breast-ovarian cancer syndrome. Phenotype-genotype analysis of 178 individuals bi-allelic for BRCA1, BRCA2, or PALB2 pathogenic variants identified the potential to redefine ORPHA: 84 clinical features and predict the magnitude of cancer risk in heterozygotes.