• Cancer Genetics and Prevention

    Dana-Farber Cancer Institute's Center for Cancer Genetics and Prevention includes a team of expert health professionals – medical oncologists, gastroenterologists, geneticists, gynecologists, psychologists, surgeons, nurses, and genetic counselors — who provide cancer risk assessment and comprehensive recommendations for managing cancer risk.

    As part of risk assessment, we offer genetic and genomic testing to determine risk for inherited cancer syndromes such as breast and ovarian cancer syndromes (BRCA1 and BRCA2), Lynch Syndrome, and various rare cancer syndromes.

    We also conduct research into many aspects of cancer risk and its management.

    About Our Cancer Genetics and Prevention Program

    Huma Rana, MD with a patient  

    Dana-Farber Cancer Institute developed one of the first clinical cancer genetics and prevention programs in the world. The program was first developed based on the fundamental work of Dr. Frederick P. Li, one of the founders of the field of cancer genetics and one of the physicians who first recognized Li-Fraumeni syndrome.

    Today, we provide expert comprehensive care for cancer patients, survivors and families who have had cancer, for their family members, and for individuals who hope to avoid cancer.

    A visit to the Cancer Genetics and Prevention Clinic usually includes time with both a physician and a genetic counselor, both of whom have expertise in all forms of inherited cancer syndromes. We educate patients about cancer risk and its implications for them and their family members. Working with referring physicians, we design individualized programs to monitor for the earliest signs of cancer — diagnosing if it occurs, and, in many cases, preventing it from arising.

    If you or your doctor thinks that you are at increased risk of developing cancer or may have an inherited risk of cancer, we can provide an estimate of your risk as accurately as possible, and work with you, and your health care team to provide strategies to help lower your cancer risk.

    Our expertise

    The landscape of the field of genetics is rapidly changing. We provide advanced options in genetic testing across the spectrum of new and established inherited cancer syndromes. The syndromes include, but are not limited to:

    • Hereditary Breast and Ovarian Cancer
      We partner 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. Research studies have shown that up to 23 percent of individuals with ovarian cancer have a genetic predisposition to this malignancy. We work closely with Dana-Farber's Gynecologic Oncology Program and high risk gynecology surgeons to provide comprehensive testing for these individuals. We also work closely with specialists in our Breast Oncology Program to identify individuals who may be at higher risk for developing breast cancer.
      View a video on genetic testing for BRCA featuring Judy Garber, MD 
    • Hereditary Colorectal Cancer
      Colorectal cancer can run in families, and about 5 to 10 percent of colorectal cancer is thought to be hereditary. We offer 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, pancreatic cancer (see below), and related cancers.
    • Li-Fraumeni Syndrome
      We offer heightened surveillance using whole body MRI, and the opportunity to participate in other research studies. We collect information about individual and family cancer history, and collect specimens from patients and family members with Li-Fraumeni Syndrome. We collaborate with the International Li Fraumeni Consortium to hasten new knowledge.
      Learn more in our article, Researchers and patients join forces against Li-Fraumeni Syndrome
      View a webinar on Li-Fraumeni Syndrome featuring Judy Garber, MD 
    • Familial Pancreatic Cancer
      There are some families with multiple close relatives or several generations affected with pancreatic cancer. We offer risk assessment and genetic testing for individuals who may be at increased risk for pancreatic cancer and determine eligibility for screening studies. We also encourage patients to take part in our family registry.
    • 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.
      View a video on GIST and Project FLAG featuring George Demetri, MD 
    • Pediatrics
      We partner with the Pediatric Cancer Risk Program to offer families complete genetic testing and management recommendations.
    • Psychosocial Services
      Dana-Farber's clinical psychologists work with patients from hereditary cancer families. We regularly consult with individuals who are considering, or have had, genetic testing for a variety of adult and pediatric cancer syndromes including, but not limited to, BRCA1/2, hereditary colon cancer genes, and Li-Fraumeni Syndrome. For a consultation, call 617-632-5577.
     

    Genetic Testing at Dana-Farber Cancer Institute

    Q: What are genes?

    A: Genes are individual units of inheritance made of DNA. We all have two copies of each gene; we inherit one copy from each of our parents and pass one copy on to each child. The exact DNA sequence of a gene is a code with instructions to make a functioning protein (like a recipe). Changes to the DNA code can cause the gene not to work and stop its protein from being made.

    Q: What is genetic testing?

    A: Genetic testing is a process that looks for alterations in a person's genes. Alterations in certain genes may lead to an increased risk of cancer. Therefore, genetic testing results may be helpful in tailoring cancer screening recommendations.

    Genetic testing involves sending a blood sample to a specialized lab for analysis. Results are returned to the ordering physician and genetic counselor, who then discloses them to the patient and arranges appropriate follow-up care.

    Q: Who is a genetic counselor?

    A: Genetic counselors are trained licensed professionals who have earned a Master's degree in genetic counseling from an accredited program. Cancer genetic counselors specifically counsel patients about inherited cancer syndromes, the chance they might carry a gene in a form that confers increased risk of specific inherited cancer syndromes, the mechanics of genetic testing, the patient's chance of having an inherited susceptibility to cancer, and the implications of being found to carry or not carry a genetic risk for cancer.

    The role of a genetic counselor is to assist individuals and families in understanding genetic disorders. Genetic counselors:

    • Gather a three-generation family history
    • Obtain informed consent for genetic testing when appropriate
    • Discuss options for risk management and family planning
    • Provide, or refer individuals for, psychosocial support as needed

    Genetic counselors often help to interpret confusing or uncertain test results, and also educate patients and providers on new testing options. For this reason, genetic counselors may maintain contact with patients over time.

    Q: What should I expect from meeting with a genetic counselor?

    A: During the visit, your genetic counselor will take a detailed family history in order to evaluate the likelihood that you could have an inherited predisposition to cancer. Features of a family history that suggest a hereditary susceptibility include:

    • Cancer diagnosed at young ages
    • Cancers spanning several generations in a family
    • Individuals with multiple cancer primaries (original sites, where cancer first starts to grow)

    The genetic counselor may then discuss the option of testing and will explain the relevant gene(s) and associated syndrome in terms of cancer risks and medical management issues. Common concerns of genetic testing, including issues of insurance discrimination and confidentiality, will be discussed. Possible results of genetic testing, as well as the cost and logistics of testing, insurance coverage, or options if insurance does not cover, will also be reviewed. Your genetic counselor will help to guide you in making the best decisions regarding genetic testing for yourself, as a decision to undergo genetic testing or not is truly a personal decision.

    Q: What personal information is needed for my visit?

    A: Information regarding personal and family cancer history – including the specific cancer(s), age(s) at diagnosis or information about pre-cancerous conditions such as colon polyps – and copies of personal or family genetic test results are requested for your visit. Other medical records such as pathology reports, surgical reports, or summary notes) are often useful. Also helpful are prior pathology reports.

    Q: How can I reduce my cancer risk?

    A: We recommend general guidelines for a healthy lifestyle as endorsed by the American Cancer Society and the National Cancer Institute, as these may also help reduce your risk for developing cancer.

    • Exercise
      Many studies have shown the importance of physical activity for overall health, maintaining weight, and lowering the risk of many types of cancer and other conditions. Most experts recommend getting at least three to five hours of exercise per week, but any steps towards increasing activity level will provide some benefit. Aerobic exercise involves raising the heart rate; examples include brisk walking, climbing stairs, jogging, swimming, and taking an exercise class. Before beginning a new exercise program, it is a good idea to talk with your doctor.
      Learn more about reducing your cancer risk through exercise 
    • Smoking
      Stop smoking. It is never too late. For smokers, kicking the habit is one of the single most important steps to reducing the risk of cancer and other serious diseases. Quitting smoking can be a challenge, and having support is a key to success. We can provide information about smoking cessation programs that should be available in your area. Your doctor can give you guidance; we also recommend the QuitWorks program offered by the Massachusetts Department of Public Health.
    • Alcohol
      The American Cancer Society recommends limiting alcohol intake to fewer than four servings per week. A serving is defined as 12 ounces of beer, 5 ounces of wine, or 1 1/2 ounces of spirits.
    • Sun Protection
      Wearing protective clothing and using sunscreen provide protection against harmful ultraviolet (UV) rays. Some forms of skin cancer are very common, but protecting yourself from the sun will reduce the risk of even the most serious types. Other risk-reducing steps include avoiding the sun during the midday peak exposure hours (between 10 a.m. and 2 p.m.) and wearing sunglasses and a hat. Tanning booths are not safe for anyone. 
    • Diet
      One of the most important factors in maintaining overall health is to eat a nutritious, heart-healthy diet. This means consuming plenty of fruits and vegetables, whole grains, and lean protein – and limiting processed foods, saturated fats, and sugar. Saturated fats are found in meats, full-fat dairy products, and many processed foods. Following a heart-healthy diet will also help you maintain a healthy weight, lowering the risk of several cancers. Be sure to talk with your doctor about any specific dietary concerns or questions you may have. We recommend Dana-Farber's Nutrition Services web section as a great place to start for ideas and recipes.
     

    Syndromes, Genes, and Site-Specific Cancers

    Cancer Genetics and Prevention meeting with clinicians  

    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
     

    Cancer Genetics Research at Dana-Farber Cancer Institute

    Cancer Genetics and Prevention genetic counselor  

    Below is a list of our current genetic trials and studies:

    Breast cancer prevention studies
    Colon cancer studies
    Li-Fraumeni Syndrome research
    Lung cancer studies
    Pancreatic cancer studies
    Other research studies
    Why take part in a genetic research study?

    While most genetic disorders cannot be cured, genetic research has provided – and continues to provide – new and improved treatments for individuals found to have genetic mutations associated with disease. Through continued research, doctors and scientists hope to provide more personalized disease treatments, while improving the speed and accuracy of genetic testing.

    Progress in the identification of cancer genes and genetic syndromes, and in the management of individuals who have increased cancer risk, all comes from cancer research. Participation in clinical trials provides individuals with an opportunity to volunteer to become part of genetic research in a meaningful way. For those who elect to take part, clinical trials may provide access to new drugs and treatments, as well as closer monitoring by health care professionals.

    For more information about our research studies, contact:

    Carleen Gentry, MA, CCRP
    Research Project Manager
    carleen_gentry@dfci.harvard.edu 

    Chinedu Ukaegbu, MBBS, MPH
    Research Project Manager
    chineduI_ukaegbu@dfci.harvard.edu 

     

    Meet Our Cancer Genetics and Prevention Team

    Cancer Genetics and Prevention team members  

    Dana-Farber Cancer Institute's Center for Cancer Genetics and Prevention offers a unique team approach to genetic testing and cancer risk management. We provide an initial cancer risk evaluation with an experienced genetic counselor and physician to discuss your personal and family history. Our team is available to talk with you and your family members. One goal of this evaluation is to help you learn what steps you can take to lower your cancer risk.

    Physicians and other clinicians

    Judy E. Garber, MD, MPH, Director, Center for Cancer Genetics and Prevention (medical oncologist)
    Sapna Syngal, MD, MPH, Director, Gastrointestinal Cancer Genetics and Prevention Clinic (gastroenterologist)
    Huma Q. Rana, MD, Clinical Director, Center for Cancer Genetics and Prevention (geneticist)
    Daniel Cramer, MD, ScD (gynecologist)
    Joel Goldberg, MD (colorectal surgeon)
    Ramona Lim, MD (gastroenterologist)
    Daniel Morganstern, MD (medical oncologist)
    Beth Overmoyer, MD (medical oncologist)
    Rochelle Scheib, MD (medical oncologist)
    Daniel Silver, MD, PhD (medical oncologist)
    Matthew Yurgelun, MD (medical oncologist)

    Andrea Farkas Patenaude, PhD (clinical psychologist)

    Rhonda Grealish, RN, BSN
    Margaret Klehm, RN, MPH, MSN, FNP
    Holly O'Kane, RN, NP

    Genetic counselors

    Anu Chittenden, MS, LGC
    Claire Healy, MS, LGC
    Carmelina Heydrich, MS, LGC
    Elaine Hiller, MS, LGC
    Shelley McCormick, MS, LGC
    Irene Rainville, PhD, LGC
    Jaclyn Schienda, MS, LGC
    Katherine Schneider, MPH, LGC
    Jilliane Sotelo, MS, LGC

    Research staff

    Victoriana Curry, BA, Clinical Research Coordinator
    victorianak_curry@dfci.harvard.edu 

    Lisa DiGianni, PhD, Senior Research Scientist
    lisa_digianni@dfci.harvard.edu 

    Carleen Gentry, MA, CCRP, Research Project Manager
    carleen_gentry@dfci.harvard.edu 

    Maja Krsmanovic, BS, Clinical Research Coordinator
    maja_krsmanovic@dfci.harvard.edu 

    Alexandra Paulo, BS, Clinical Research Coordinator
    alexandra_paulo@dfci.harvard.edu 

    Elizabeth J. Root, BS, Research Project Manager
    elizabeth_root@dfci.harvard.edu 

    Margery Rosenblatt, MA, Research Project Manager
    margery_rosenblatt@dfci.harvard.edu 

    Chinedu Ukaegbu, MBBS, MPH, Research Project Manager
    chineduI_ukaegbu@dfci.harvard.edu 

    Clinical Administrative Support Staff

    Fatiana Cardoso
    Jennifer Megan Chung
    Aviah Hill
    Jill Kaufman

     

    Contact Us

    Cancer Genetics and Prevention staff member  

    Please contact us with any questions or inquiries:

    Mailing address

    Dana-Farber Cancer Institute
    Center for Cancer Genetics and Prevention
    450 Brookline Avenue
    MS 1068
    Boston, MA 02215

    New patients

    617-632-2178 

    Established patients

    617-632-5022 

    General administrative inquiries

    Hannah Green, MPH, Manager, Disease Center Operations
    hannah_green@dfci.harvard.edu
    617-632-2359 

    General research inquiries

    Carleen Gentry, MA, CCRP, Research Project Manager
    carleen_gentry@dfci.harvard.edu
    617-632-5399 

    For referring physicians

    A patient's primary care physician or community specialist is an integral part of the patient's care team; we are committed to collaborating with you in the care of your patient.

    If you are a health care provider and would like to refer a patient, we look forward to working with you.

    Find out more about how to refer a patient to DF/BWCC.

     
     
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  • Make an Appointment

    • For adults:
      877-442-3324 (877-442-DFCI)
    • For children:
      888-733-4662 (888-PEDI-ONC)
    • Or complete the online form.
  • PREMM Prediction Model for Healthcare Professionals

    • This clinical prediction algorithm was designed for healthcare professionals to estimate the cumulative and individual probabilities that an individual is an MLH1, MSH2, or MSH6 mutation carrier. Mutations in these genes are found in most patients with Lynch syndrome.
  • Pedigree Form

    • This form will provide us with important information about your family history of cancer. Call 617-632-2178 for more information or help.
      Pedigree form
  • Ask the Cancer Genetics Team

    • Do you have questions about genetic testing or are you wondering if you or someone in your family is at greater risk of developing cancer? Our cancer genetics team can help answer your questions.