BRCA1, familial breast-ovarian cancer susceptibility 1
Do other diseases that look a lot like Hereditary Breast and Ovarian Cancer syndrome?
Hereditary Breast and Ovarian Cancer syndrome is caused by mutations, or genetic changes, in either the BRCA1 or BRCA2 genes. There are also other hereditary breast cancer syndromes. For example:
- Li-Fraumeni syndrome (TP53 gene) increases the risk for multiple cancers including breast, sarcoma, brain, adrenocortical carcinoma, and other cancers
- Cowden syndrome (PTEN gene) increases the risk for breast, thyroid, uterine, kidney, and other cancers
- Hereditary Diffuse Gastric Cancer syndrome (CDH1 gene) increases the risk for breast, stomach, and colorectal cancer
- Peutz-Jeghers syndrome (STK11 gene) increases the risk for breast, colorectal, stomach, small bowel, pancreatic, and other cancers
There are other genes, referred to as moderately penetrant genes, that are also associated with hereditary breast and/or hereditary ovarian cancer. Although moderate penetrance genes are associated with hereditary cancer, the cancer risks are not as high when compared to genes such as BRCA1/2. Moderate penetrance genes associated with an increased risk for breast and other cancers include genes such as ATM, CHEK2, and PALB2. Genes such as BRIP1, RAD51C, and RAD51D are moderate penetrance genes associated with an increased risk for ovarian and other cancers.