Other genes

In less than 1% of all cases, hereditary breast cancer results from rare syndromes.

Caused by mutations in the tumor suppressor gene p53, the Li-Fraumeni syndrome is associated with breast cancer, but also with brain and colon tumors as well as sarcomas, leukemia and tumors in children. 

Caused by mutations in the tumor suppressor gene PTEN, the Cowden syndrome is associated with breast, thyroid, uterus (endometrial) cancers, but also macrocephaly and skin lesions.

Other genes linked to hereditary breast cancer include STK11/LKB1, CDH1, CHEK2, ATM, MLH1, and MSH2, and, most probably, quite a few other still undiscovered genes.

The large majority of hereditary breast cancers, however, are caused by mutations in the BRCA genes