Hereditary Cancer Syndromes

A condition that can lead to colon cancer. FAP is characterized by precancerous polyps in the gastrointestinal tract.

The most common type of inherited breast cancer. Inherited genetic mutations to the BRCA1 and BRCA2 genes increase a woman’s risk for breast and ovarian cancers. The BRCA gene mutation can also increase cancer risk in men, potentially leading to prostate or pancreatic cancer, melanoma and other cancers.

Inherited genes that create an increased risk of leukemia and other blood diseases.

A rare genetic mutation of the TP53 gene that increases the risk of many types of cancer. The risk relates to soft tissue sarcomas, breast cancer, brain tumors, leukemia and lung cancer.

A predisposition for early onset colorectal cancer and cancer caused by mutations in the MLH1, MSH2, MSH6 or PMS2 genes. Lynch syndrome can also lead to extracolonic tumors.

A group of hereditary conditions that increase the risk for tumors in hormone-producing glands. Mutations in the MEN1, RET and other genes can lead to thyroid and endocrine cancers.

Abnormal growth of blood vessels in the retina, brain, spinal cord and other parts of the nervous system. Inheriting the VHL gene increases the risk of developing certain cancers, including kidney cancer. 

MUTYH-associated polyposis is an inherited condition in which individuals may develop a few, or hundreds to thousands of precancerous growths in the colon, called adenomatous polyps. People with MAP are also at an increased risk to have colon, small bowel, and thyroid cancer, and possibly other cancers. MUTYH-associated polyposis is caused by inheriting two copies of the MUTYH with harmful changes, one from each parent.

PTEN Hamartoma Syndrome is an inherited condition that is associated with an increased risk for benign and malignant tumors or the thyroid, breast, uterus, and colon. PTEN Hamartoma Syndrome is linked to inherited harmful changes in the PTEN gene.

Peutz-Jeghers syndrome is an inherited condition that is associated with an increased risk for benign tumors and cancers of the colon, stomach, pancreas, breast, and ovary. Individuals with PJS are also at increased risk for hamartomaous gastrointestinal polyps that can cause a condition called intussusception that can require surgery. Peutz-Jeghers syndrome is caused by inherited harmful changes in the STK11 gene.

Hereditary paraganglioma-pheochromocytoma syndrome is an inherited condition in which individuals develop benign tumors of the paraganglia, specialized cells of the nervous system. Hereditary paraganglioma-pheochromocytoma syndrome can be caused by inherited harmful changes in several genes including SDHA, SDHAF2, SDHB, SDHC, and SDHD.

Hereditary diffuse gastric cancer is an inherited condition in which individuals are at an increased risk of developing diffuse gastric cancer and lobular breast cancer. Diffuse gastric cancer is a type of cancer that forms in the stomach causing thickening of the wall of the stomach (linitis plastica) that does not form a distinct mass. Hereditary diffuse gastric cancer is linked to inherited harmful changes in the CDH1 gene.

Hereditary leiomyomatosis and renal cell cancer is an inherited condition associated with increased risk for benign skin tumors, benign tumors in the uterus, and kidney cancers. Hereditary leiomyomatosis is associated with inherited harmful changes in the FH gene.

Birt-Hogg-Dubé syndrome is a hereditary condition associated with benign skin tumors, lung cysts and an increased risk of both benign kidney tumors and kidney cancer. Birt-Hogg-Dubé is associated with inherited harmful changes in the FLCN gene.

FAMMM is considered when two or three close relatives have been diagnosed with melanoma and pancreatic cancer or a family member has been diagnosed with melanoma multiple times. Some affected individuals have 50 or more moles. FAMMM is due to inherited harmful changes in the CDKN2A gene. Familial melanoma can be linked in some families to inherited harmful changes in other genes, including CDK4 and BAP1.