Characteristics of gynecologic hereditary tumor syndromes include multiple effects among family members, early age of onset, and the presence of multiple and/or bilateral primary cancers, although these clinical markers have long been known. It may now be possible to identify some of the genetic mutations that cause individual inherited breast, gynecologic, and gastrointestinal cancers. A recent study found germline mutations in 24% of unscreened ovarian cancers, including 18% of BRCA1 or BRCA2 mutations. A comprehensive summary of genetic testing for hereditary gynecologic tumors was recently published in the journal GynecolOncol by Lancaster JM et al. of the H. LeeMoffitt Cancer Center and Research Institute, USA. Women with mutations in the cancer susceptibility gene BRCA1 are associated with hereditary breast and ovarian cancer (HBOC), with a 65-85% risk of breast cancer and 39-46% risk of ovarian/fallopian tube/peritoneal cancer (OV/FT/PC) at age 70. Similarly, women with BRCA2 mutations have a 45-85% and 10-27% risk of breast cancer and OV/FT/PC cancer, respectively, at age 70. Mismatch repair gene mutations (MLH1, MSH2, MSH6 or PMS2) due to DNA cause hereditary non-polyposis colorectal cancer in women and also increase the risk of endometrial and ovarian cancers. In the female population, the lifetime risks of endometrial cancer due to MLH1,MSH2 and MSH6 mutations were 20-54%, 21-49% and 16-71%, respectively. The risk of ovarian cancer was 4-20%, 7.5-24% and 0-13.5%, respectively. PMS2 mutations conferred a 15% lifetime risk of endometrial cancer and slightly increased the risk of ovarian cancer. The lifetime risk of colorectal cancer in women with Lynch syndrome is 25-50%, slightly lower than in men. Multiple missense syndrome, which is based on germline mutations in the PTEN gene, has a 19-28% risk of endometrial cancer at age 70. However, in these studies, the risk of endometrial cancer may be higher given the presence of some prior hysterectomies. In addition to the risk of endometrial cancer, germline mutations in the PTEN gene are associated with a 50% risk of breast cancer and a 3-10% risk of thyroid cancer, and germline mutations in the TP53 gene are strongly associated with Levant syndrome, with a 60% risk of breast cancer. In addition, there are other “core” cancers, including sarcoma, brain, and adrenocortical cancers. The less common melanotic polyp syndrome is caused by STK11/LKB1 mutations and is associated with an increased risk of cervical, ovarian, and breast cancer (10%, 21%, and 50%, respectively).