A woman inherited a pathogenic variant of the BRCA2 gene fro…
A woman inherited a pathogenic variant of the BRCA2 gene from her mother. The genetic counselor informed her that the lifetime penetrance of this disorder is close to 90%. Which of the following is the most likely molecular explanation for this statement? A The pathogenic BRCA2 allele is dominant to the functional BRCA2 allele, resulting in BRCA2 variant expression. B The functional BRCA2 allele is likely to eventually acquire a mutation, resulting in loss of heterozygosity. C The pathogenic BRCA2 allele will be amplified, resulting in a copy number variant. D Recombination is likely to occur between the two BRCA2 alleles, resulting in compound heterozygosity. E The pathogenic BRCA2 allele will be deleted, resulting in BRCA2 hemizygosity.