Skip Navigation

Syndromes, Genes, and Site-Specific Cancers

  • 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 a hereditary cancer predisposition.

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

    • Hereditary Breast and/or Ovarian Cancer: BRCA1, BRCA2, 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: APC, MUTYH
    • Familial Pancreatic Cancer: BRCA2, BRCA1, STK11, 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