Double heterozygosity for TP53 and BRCA1 mutations: clinical implications in populations with founder mutations

ConclusionsThis family highlights the need to genotype both parents, especially in populations with founder mutations, when aBRCA1 mutation is detected in an offspring, regardless of family history. The combination of mutations in these two genes presents a challenge for PGD since both genes are located on chromosome 17.
Source: Breast Cancer Research and Treatment - Category: Cancer & Oncology Source Type: research