Syndromes, Genes, and Programs

Genetic and genomic testing enables the examination of DNA and assists in determining susceptibility to inherited diseases. Genetic testing for cancer predisposition has traditionally been done by looking at one gene at a time. With advances in technology, multiple genes can be evaluated in parallel through one test — this is referred to as panel testing or multiplex testing. New technologies such as whole genome or exome testing (evaluation of the complete set of DNA) of a person or a tumor may identify hereditary cancer predisposition.

Our Specialty Centers and Programs

Clinicians in our specialty centers and programs provide state-of-the-art care, while helping patients and families to understand their cancer risk and suggest ways to lower risk.

Breast and Ovarian Cancer Genetics and Prevention

The Cancer Genetics and Prevention Program partners with medical oncologists and gynecological oncology surgeons, geneticists, and genetic counselors to evaluate your personal or family history of breast and ovarian cancers and other associated cancers. Patients learn what steps they can take to reduce their risk of developing breast and ovarian cancer.

Gastrointestinal Cancer Genetics and Prevention Program

Colorectal cancer can run in families, and about 5 to 10 percent of colorectal cancer is thought to be hereditary. The Gastrointestinal Cancer Genetics and Prevention Program offers advanced genetic testing to determine an individual's risk for colorectal cancer. Our practice follows patients who have an increased risk for polyps, colorectal cancers, gastrointestinal cancers, Lynch syndrome, and related cancers. We also offer risk assessment and genetic testing for individuals who may be at increased risk for pancreatic cancer and determine eligibility for screening studies.

Lynch Syndrome Center

Lynch syndrome is a genetic condition that increases the risk of certain cancers. The Lynch Syndrome Center is the largest and most comprehensive multidisciplinary cancer genetics group in the region that specializes in coordinating the care of people with Lynch syndrome. The Center’s mission is to provide personalized and comprehensive preventive care and treatment for families with Lynch syndrome, supported by world class research and state-of-the-art diagnostics. Our specialists act as quarterbacks, by creating personalized management plans for people who have Lynch syndrome. Lynch syndrome is a multi-organ disease associated with colon, uterine, and pancreatic cancer among others, and we ensure careful monitoring and managing the disease to prevent each of these cancers in our patients.

Li-Fraumeni Syndrome and TP53 Center

Dana-Farber's Li-Fraumeni Syndrome and TP53 Center is the first comprehensive multi-disciplinary center in the world that specializes in coordinating the care of people with LFS and TP53+ results, as well as provides psychological and social support for patients and their families. Our team of internationally renowned experts develops personalized cancer risk management plans for children, adolescents, and adults with LFS and TP53+ results, and will work with their health care providers - oncologists, pediatricians, primary care physicians, and others - to provide ongoing care.

Hereditary Paraganglioma-Pheochromocytoma Syndrome (PGL/PCC)

The Paraganglioma-Pheochromocytoma Genetics Group is a collaborative initiative of Dana-Farber's Cancer Genetics and Prevention Program and Brigham and Women's Endocrine Division – with endocrinologists, geneticists, oncologists, and genetic counselors dedicated to providing patients with personalized hereditary risk evaluation, genetic testing, recommendations for screening and prevention, and long-term follow-up.

Gastrointestinal Stromal Tumors (GIST)

By looking at the genes of people with GIST, we have learned about inherited forms of GIST and how best to monitor individuals at high genetic risk.

Learn more about GIST

Testing for Syndromes and Genes

Some of the testing capabilities at Dana-Farber Cancer Institute include:

  • Hereditary Breast and/or Ovarian Cancer: BRCA1BRCA2, PALB2, CHEK2, BRIP1, NBN, RAD50, RAD51C, RAD51D, ATM, BARD1
  • Li-Fraumeni Syndrome: TP53
  • Lynch Syndrome or Hereditary Nonpolyposis Colorectal Cancer: MLH1, MSH2, MSH6, PMS2, EPCAM
  • Familial Adenomatous Polyposis (FAP) and Attenuated Familial Adenomatous Polyposis: APCMUTYH
  • Familial Pancreatic Cancer: BRCA2BRCA1STK11, CDKN2A, MLH1, MSH2, MSH6, PMS2, EPCAM
  • Paraganglioma and Pheochromocytoma Syndrome: SDHB, SDHD, SDHC, SDHA, SDHAF2, TMEM127, MAX, NF1, FH, RET, VHL
  • Cowden Syndrome: PTEN
  • Multiple Endocrine Neoplasia Type 2A, 2B and Familial Medullary Thyroid Cancer: RET
  • Peutz-Jeghers Syndrome: STK11
  • Juvenile Polyposis: BMPR1A, SMAD4
  • Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC): FH
  • Birt-Hogge-Dubé Syndrome: FLCN
  • Hereditary Melanoma: CDKN2A, CDK4
  • Von Hippel-Lindau Syndrome: VHL
  • Neurofibromatosis: NF1
  • DICER1 Syndrome: DICER1
  • BAP1 Syndrome: BAP1

Screening Procedures

Screening procedures that we would be happy to assist in scheduling at Dana-Farber Cancer Institute or Brigham and Women's Hospital include:

  • Colonoscopy: A test that allows the clinician to see the large intestine
  • Endoscopy: A type of screening that uses a lighted instrument (endoscope) to examine the interior of hollow areas or organs within the body
  • Endoscopic ultrasound: A combination of ultrasound and endoscopy that allows the collection of images about the digestive tract
  • Endoscopic retrograde cholangiopancreatogram (ERCP): A test that uses a lighted scope (endoscope) to examine the tubes that drain the liver, gallbladder, and pancreas
  • Mammogram: An x-ray of the breast
  • Magnetic resonance cholangiopancreatography (MRCP): A technique that uses magnetic resonance imaging to see biliary and pancreatic ducts
  • MRI / breast MRI: A technique used to see internal structures of the body in detail. This type of imaging provides contrast and enables detailed images of the body
  • Ultrasound / transvaginal ultrasound: Screening used to detect objects or see distances