Detection of eight BRCA1 mutations in 10 breast/ovarian cancer families, including 1 family with male breast cancer.

摘要: Genetic epidemiological evidence suggests that mutations in BRCA1 may be responsible for approximately one half of early onset familial breast cancer and the majority breast/ovarian cancer. The recent cloning allows direct detection mutations, but feasibility presymptomatic screening susceptibility is unknown. We analyzed genomic DNA from affected individual each 24 families with at least three cases ovarian or cancer, using SSCP assays. Variant bands were subcloned sequenced. Allele-specific oligonucleotide hybridization was used to verify sequence changes screen control individuals. Six frameshift two missense detected 10 different families. A mutation a male proband both prostate 40-bp deletion patient who developed intra-abdominal carcinomatosis 1 year after prophylactic oophorectomy. Mutations throughout gene, only more than single family. These results provide further inherited can occur as consequence wide array mutations. development test will technically challenging. finding family not previously thought related BRCA1, also illustrates potential difficulties genetic counseling individuals known carry