Hereditary Cancer Syndromes
Most cancer is sporadic or occurs by chance. However, up to 10 percent of cancer may have a hereditary cause. Hereditary cancers are caused by a change in a gene, leading to a much higher risk of developing cancer.
During the past decade, scientists have discovered specific genes that play a role in the development of many cancers. Genetic testing is available for some of these hereditary cancer syndromes. To learn if you have an increased likelihood of developing certain cancers, or whether you have inherited a hereditary cancer predisposition gene, you should consult with a specialist who has experience in the area of hereditary cancer, cancer risk assessment, and genetic counseling and testing.
Genetic testing is available for the following hereditary cancer syndromes:
- Basal cell nervous syndrome/Gorlin syndrome (PTCH1) – multiple basal cell carcinomas, fibrosarcomas
- Birt-Hogg-Dube syndrome (FLCN) – renal cancer
- CHEK2 related cancers (CHEK2) – breast, prostate, colon, thyroid and kidney cancer
- Cowden syndrome (PTEN) – breast, thyroid and endometrial cancer
- Familial adenomatous polyposis, attenuated FAP, Gardner syndrome, MYH-associated cancers (APC, MYH) – colon cancer, colon polyps, and GI cancers
- Familial atypical mole-malignant melanoma syndrome (FAMMM) (CDKN2A/p16) – melanoma, pancreatic cancer
- Hereditary breast and ovarian cancer (BRCA1, BRCA2)
- Hereditary paraganglioma-pheochromocytoma syndrome (SDHB, SDHC, SDHD, SDHAF1, TMEM127)
- Juvenile polyposis syndrome (BMPR1A, SMAD4) – juvenile polyps, colon, gastric, small bowel, and pancreatic cancer
- Li-Fraumeni syndrome (p53) - Bone, brain, breast, adrenal cortical cancer, leukemia and sarcomas
- Lynch syndrome/hereditary nonpolyposis colorectal cancer - (MLH1, MSH2, MSH6, PMS2) – Colon, endometrial, ovarian, stomach, and small bowel cancer
- Multiple endocrine neoplasia type 1 – Thyroid, parathyroid, pituitary and pancreatic cancer
- Multiple endocrine neoplasia type 2, familial medullary thyroid carcinoma (RET) – Medullary thyroid carcinoma, hyperparathyroidism, and pheochromocytomas
- PALB2 related cancers, breast and pancreatic cancer (PALB2)
- Peutz-Jeghers syndrome (STK11 gene) – Peutz-Jeghers type polyps, mucocutaneous pigmentation and gastroesophageal, small bowel and pancreatic cancer
- Pleuropulmonary blastoma (PPB) family tumor and dysplasia syndrome (DICER1) – pleuropulmonary blastoma, cystic nephroma, ovarian Sertoli-Leydig cell tumors, ciliary body medulloepithelioma
- Rhabdoid tumor predisposition syndrome – Choroid plexus, PTEN and renal cancer
- Retinoblastoma (RB1)
- Von Hippel-Lindau disease (VHL) – Renal cell carcinomas, pheochromocytomas, hemangioblastomas in the central nervous system, retinal angiomas, endolymphatic sac tumors, renal and pancreatic cysts
If you would like more information about testing for hereditary cancer syndromes, we encourage you to speak with one of our genetic counselors. To schedule an appointment, please call the Genetic Center, 330-543-8792.