Hereditary Cancer Syndromes

Birt-Hogg-Dubé (BHD) syndrome is an inherited condition where individuals with BHD have an increased risk to develop kidney cancer at a young age.  Affected individuals also have a risk for non-cancerous health conditions.  They have an elevated chance to develop multiple lung cysts that can lead to a collapsed lung, and many affected individuals will develop skin lesions on their face, neck and upper trunk starting in their 30s and 40s. Affected individuals may have a risk to develop other benign tumors and cancers.  BHD is caused by genetic changes in the FLCN gene.

Familial Adenomatous Polyposis (FAP) is an inherited condition where individuals have an increased risk to develop hundreds of colon polyps. Individuals with FAP have an increased risk to develop colon cancer, stomach cancer and small bowel cancer.  Affected individuals have an elevated risk for other cancers that include hepatoblastoma in early childhood, thyroid cancer, and medulloblastoma.  FAP is caused by genetic changes in the APC gene.

Familial Atypical Multiple Mole Melanoma Syndrome (FAMMM) is an inherited condition where individuals have an increased risk to develop cutaneous melanoma and pancreatic cancer. FAMMM is caused by genetic changes in the CDKN2A gene. Certain genetic changes in the CDKN2A gene may increase the risk for other cancers, including nervous system tumors.

Hereditary Breast and Ovarian Cancer Syndrome (HBOC) is an inherited condition which is the most common cause of hereditary breast and ovarian cancer. Individuals with HBOC have an increased risk to develop female and male breast cancer, ovarian, fallopian tube, and primary peritoneal cancers, prostate cancer, pancreatic cancer, and melanoma.  HBOC is caused by genetic changes in the BRCA1 and BRCA2 genes.

Hereditary Diffuse Gastric Cancer (HDGC) is an inherited condition that increases the risk of certain types of stomach and breast cancer. HDGC is most commonly caused by genetic changes in the CDH1 gene, and less commonly in the CTNNA1 gene. 

Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC), also known as FH tumor predisposition syndrome, is an inherited condition that can cause uterine fibroids, benign tumors of the skin, and an increased risk of kidney cancer. HLRCC is caused by genetic changes in the FH gene. 

Hereditary Leukemia and Hematologic Malignancy Syndromes (HHMS) refer to a group of inherited conditions that increase the risk of developing certain blood cancers, including leukemia and other disorders affecting the blood and bone marrow. These conditions can be caused by genetic changes in several different genes, including RUNX1, DDX41, and others. The specific condition depends on the gene involved.

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

Li-Fraumeni syndrome is an inherited condition that causes an increased risk of various types of cancers, including breast cancer, soft tissue sarcomas, leukemias, as well as others. Individuals with Li-Fraumeni syndrome can be diagnosed with cancer at young ages and may develop multiple cancers in their lifetime. Li-Fraumeni can be caused by genetic changes in the TP53 gene.

Lynch syndrome is an inherited condition where individuals have an increased risk for mainly colon and gynecologic cancers (in females assigned at birth). Lynch syndrome is caused by genetic changes in one of five genes (MLH1, MSH2, EPCAM, MSH6 or PMS2).

Multiple endocrine neoplasia, type 1 (MEN1) is an inherited condition where individuals have a higher risk of developing non-cancerous tumors of the pituitary gland, parathyroid, and a specific kind of pancreas tumor called a neuroendocrine tumor (PNET). MEN1 is caused by genetic changes in the MEN1 gene.

Multiple endocrine neoplasia, type 2 (MEN2) is an inherited condition where individuals have a higher risk of developing a specific type of thyroid cancer called medullary thyroid cancer. MEN2 is caused by genetic changes in the RET gene.

MUTYH-associated polyposis (MAP) is an inherited condition where 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 for colon, small bowel, thyroid, and other cancers. MAP is caused by inheriting two genetic changes in the MUTYH gene, one from each parent.

Peutz-Jeghers syndrome is an inherited condition that can cause benign tumors and cancers of the colon, stomach, pancreas, breast, and ovary. Peutz-Jeghers syndrome is caused by genetic changes in the STK11 gene. 

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. It can be associated with certain skin findings, gastrointestinal polyps, a large head circumference, developmental delay, and/or autism spectrum disorder. PTEN Hamartoma Syndrome is caused by genetic changes in the PTEN gene.

Von Hippel-Lindau (VHL) syndrome is an inherited condition that can cause benign tumors of the blood vessels in the eye, brain, and spinal cord. It can also cause cancers of the kidney and other organs. VHL syndrome is caused by genetic changes in the VHL gene.