Table 2.

List of some rare, inherited syndromes associated with increased risk of breast and ovarian cancer.

Syndrome	Features
Body_ID: T093002.50
Cowden	Multiple hamartoma of the skin and oral mucosa, adenoma of the thyroid, gastrointestinal tract and central nervous system. Autosomal dominant. Up to 50% risk for a female of developing breast cancer. Germline mutations in the PTEN gene (or MMAC) on chromosome 10 are responsible for the disease in some families.
Body_ID: T093002.100
Gorlin	Multiple nevoid basal cell carcinoma at a variable degree of malignancy, agenesis of the corpus callosum, increased frequency of breast cancer. Autosomal dominant. Gene (PTCH1) located to 9q31.
Body_ID: T093002.150
Li-Fraumeni	Typically early onset of breast cancer in women and excess of childhood sarcomas, acute leukemia, etc. The presence of multiple primary tumors is frequent. Some of the cases are caused by germline mutations in p53 (chromosome 17p13); in a minority the mutation is in Chk2 (chromosome 22q12) but in other families the cause is unknown. Autosomal dominant.
Muir-Torre	Skin lesions associated with colorectal, larynx cancer or duodenal cancer and excess of breast, ovary, bladder, esophagus and uterus cancer. Gene located on chromosome 2p, (same location as hMSH2). Autosomal dominant.
Reifenstein	Males with hypospadias and other signs of inadequate androgen effect due to resistance to androgens. The condition can develop breast cancer in males. Androgen receptor gene mutation on chromosome X.
Peutz-Jegher	Hyperpigmentation particularly of the mouth, multiple hamartomas of the small intestine but excess of other types of cancer including breast cancer. STK11 mutations in the gene located on chromosome 19p in some families. Autosomal dominant.