Breast cancers have strong familial predisposition and runs in families. Many studies have been done in this regard. About 10% of human breast cancers can be linked directly to germline mutations. Several genes have been implicated to cause
Li-Fraumeni syndrome is characterized by inherited mutations in the p53 tumor-suppressor gene, that lead to an increased incidence of breast cancer, osteogenic sarcomas, and other type of cancers. Inherited mutations in PTEN have been reported to increase breast cancer.
BRCA-1, a tumor suppressor gene, has been identified at the chromosomal locus 17q21. The gene seems to be involved in gene repair. Women who inherit a mutated gene from either parent have at least a 60% to 80% lifetime chance of developing breast cancer and about a 33% chance of developing ovarian cancer. Men who inherit the gene have an increased incidence of prostate and breast cancer.
Another gene, BRCA-2, which has been identified at the chromosomal locus 13q12, is also associated with an increased incidence of breast cancer in men and women.
Mutations in BRCA-1 and BRCA-2 can be easily detected and patients should be given genetic counseling. All women with strong family histories for breast cancer are ideally sent to genetic screening programs, particularly women of Ashkenazi Jewish origin, because they have a high incidence of a specific BRCA-1 mutation. This mutation is due to deletion of adenine and guanine at position 185.
The role of these genes is more important in sporadic form of breast cancer than inherited form of
Lots of research is still required to determine exact risk of familial predisposition of breast cancer and diseased (mutated) genes before we can say conclusively.
