Dana-Farber's Cancer Genetics and Prevention Program offers advanced genetic tests to determine individuals' risk for inherited forms of cancer, including breast, ovarian, stomach, and colon cancer, as well as GIST and Li-Fraumeni Syndrome. We also provide patient education and work with clinicians to monitor, diagnose, and in many cases prevent cancer.
Cancer is not usually an inherited disease. In some families with a history of certain types of cancer, however, people may inherit abnormal genes that place them at greater risk of developing the disease.
Scientists have identified several defective or mutated genes that increase the potential of developing cancers of the breast, ovaries, colon, and prostate, as well as a variety of rare cancers. Patients can now be tested to determine whether they carry any of these inherited mutations.
If inherited abnormalities are found, the information may help individuals and their physicians take steps to detect cancer at its earliest stages, when it is most treatable, or prevent it altogether. If mutations aren't found, this news can be a relief to people who have worried about their cancer risk.
The Dana-Farber Cancer Genetics and Prevention Program offers advanced genetic tests to determine whether individuals are at risk for inherited forms of cancer. We also educate patients about cancer risk and its implications for themselves and family members. Working with referring physicians, we design individualized programs for monitoring patients for the earliest signs of cancer, diagnosing it if it occurs, and, in many cases, preventing it from arising.
If you or your doctor thinks that you are at high risk of developing breast or ovarian cancer, we can create a personalized program to estimate your risk as accurately as possible, and will work with you, your physicians, and nurse practitioners to lower your risk.
For those at high risk of developing cancer of the colon, stomach, pancreas, or esophagus, we can help you evaluate your situation and take specific steps to lower your risk.
GIST is a rare cancer that may run in a small number of families. By looking at the genes of people with GIST, we hope to learn more about inherited forms of GIST and how best to monitor individuals at high genetic risk.
This study will collect information on personal cancer history and family history, as well as blood and tissue specimens from patients and family members with Li-Fraumeni syndrome.
While all women are at risk of developing breast or ovarian cancer over their lifetimes, some women have an extra risk, often because of factors beyond their control.
You may face a higher risk of breast or ovarian cancer if your first pregnancy came at a late age or if your menstrual cycles began at an early age. You may also have an elevated risk if your blood levels of female hormones remain high after menopause, or if you used hormone replacement therapy for a long period of time after menopause.
If you have close relatives who developed breast and/or ovarian cancer at young ages, you may have an increased risk as well, especially if you or a relative carries a breast/ovarian cancer gene.
Unfortunately, it is also possible to develop breast and/or ovarian cancer without having any of the above risk factors. For this reason, we recommend that all women follow established recommendations for breast health: regular exercise, maintenance of healthy body weight, minimal alcohol intake, and regular monitoring and screening as recommended by age. These offer the best chance of keeping cancer risk at a minimum.
The Cancer Genetics and Prevention Program can help you understand of your own risk of developing breast and ovarian cancer. A realistic understanding can help you plan how you want to manage that risk.
You may have a predisposition to develop breast or ovarian cancer if:
If you or your doctor thinks you are at high risk of developing breast or ovarian cancer, the Cancer Genetics and Prevention Program can create a personalized program to estimate your risk as accurately as possible and work with you, your physicians and nurse practitioners to lower your risk as much as possible.
This begins with a cancer risk evaluation, where you will meet with a genetic counselor and a physician to discuss your family's history of cancer. Surgeons, oncologists, radiologists, and social workers are also available to talk with you and your family. One goal of this evaluation is to help you learn what steps you can take to lower your risk of developing breast and ovarian cancer.
Any plan for lowering cancer risk must include cancer screening, which can help find cancer early. The staff at the Cancer Genetics and Prevention Program can help you determine which types of cancer screening tests are best for you, and how often you should be screened.
Genetic testing can be an important part of finding genetic markers that could dramatically increase the risk of cancer. Learning whether or not you carry a genetic mutation may influence how, how often, and when you and your family begin cancer screenings.
You may have the opportunity to take part in clinical trials. These studies examine the best ways to prevent breast and ovarian cancers, as well as methods to help detect these cancers early, when treatment is most effective. Other studies seek to understand the factors that influence when a cancer might develop.
Here are some of the breast and ovarian cancer studies currently underway at the Cancer Genetics and Prevention Program at Dana-Farber.
This study aims to learn more about the effectiveness of lapatinib for the treatment of ductal carcinoma in situ breast cancer (DCIS).
Lapatinib has been approved by the FDA for use in treatment of advanced breast cancer. It remains an investigational drug for the treatment of women with DCIS (ductal carcinoma in situ). We do not yet know if it is useful or safe as a chemopreventive agent for DCIS.
The main purpose of this study is to determine if lapatinib inhibits the growth of ductal cell carcinoma (DCIS). In addition, the research study aims to measure the good and bad effects of the study drug lapatinib at 1,000 mg a day when compared to a placebo (inactive pill).
Women age 21 or older who are DCIS positive for either EGFR or erbB2 (or both) will be considered for enrollment.
After you have signed the consent form, tests will be done before you begin taking study drug and 5 days prior to your surgery.
These tests include:
You will be randomized (a 50/50 chance) to take either Lapatinib or a placebo (inactive pill) daily for 2-6 weeks before your breast cancer surgery.
This is a 2-6 week study where patients are given either lapatinib in one of three doses or placebo before their breast cancer surgery.
Carleen Gentry, MAcarleen_gentry@dfci.harvard.edu617-632-5399
The purpose of this research study is to have a better understanding of the process of cancer development in BRCA 1 and 2 mutation carriers and other high-risk individuals.
In this research study we will collect tissue from individuals who are at a high risk of developing cancer, and compare the findings to tissue obtained from individuals at average risk. We hope that by looking at the tissue of individuals with predisposing genes, we can have a better understanding of the process of cancer development in BRCA 1 and 2 mutation carriers and other high-risk individuals. With this information, we hope to better identify carriers whose short-term risk of breast cancer is much higher, which would allow better timing of risk-reducing interventions.
This research study is designed to gather personal medical/health information, breast tissue samples, and skin tissue samples from participants. After collection of this information, your participation in the study ends.
Kristen KuziaKristen_Kuzia@dfci.harvard.edu800-828-6622, option 4617-632-6129
This study aims to evaluate the effectiveness of prophylactic (risk-reducing or preventive) surgery among women with a family history of breast and/or ovarian cancer.
The primary purpose of this study is to evaluate the effectiveness of prophylactic surgery among women with a family history of breast and/or ovarian cancer, and who may be at high risk of developing cancer themselves. We will also be looking at other factors that may influence risk of breast and ovarian cancer in high-risk women, including lifestyle factors like birth control pills, or smoking and alcohol use. The study has already produced important information that is used in advising women about these very difficult decisions.
We hope that women will agree to be followed for five years.
A questionnaire is mailed once a year for five years. The average time to complete each questionnaire is 10 to 15 minutes.
Susan Rouxsusan_roux1@dfci.harvard.edu800-828-6622, option 3617-632-6693
This study aims to create a resource bank that will help researchers to better understand breast and ovarian cancer risk, and develop new breakthroughs in prevention and treatment.
The REACH project collects risk factor information, blood and tissue specimens from patients and family members at high risk for breast and/or ovarian cancer. The data and specimen bank will be used as a resource to be shared with researchers working in the areas of breast and ovarian cancer risk, prevention and treatment.
Individuals with an increased risk of breast cancer are eligible. You are eligible to join the study if you meet any of the following criteria:
One-time, approximately 30 minutes to fill out the questionnaire and have your blood drawn.
This study looks at the relationship between vitamin D and the reduction of breast cancer risk.
In this research study, we are comparing the effects (good and bad) of taking vitamin D supplements every day for one year with those of taking placebo (inactive pill) every day for one year on several "biomarkers" of breast cancer risk. We are testing the effects of vitamin D on these "biomarkers" because some research studies show that vitamin D may protect against breast cancer.
This study is for pre-menopausal women who have expressed an interest in reducing their risk of developing breast cancer.
After you have signed the consent form, tests will be done before you begin taking vitamin D and at the end of the study.
You will be randomized (a 50/50 chance) to take either vitamin D (2000 IUs) or a placebo (inactive pill) daily for one year.
This is a one-year study.
Carleen Gentry, MA, CCRP617email@example.com
This study is being conducted by Dr. Jennifer Ligibel to see if we can measure changes that occur in breast tissue when women at risk of developing breast cancer start an exercise program.
Research show that women, who exercise regularly, are less likely to develop breast cancer, but there in not very much information explaining how exercise could affect breast cells in a way to prevent cancer from occurring.
This study is for pre-menopausal women, who are at increased risk of developing breast cancer.
After you have signed the consent form, tests will be done before you begin the study.
After these tests have been done, an exercise physiologist will work with you to design an individual exercise program that will help you gradually increase your activity level to 220 minutes of exercise per week. You will be required to participate in two supervised exercise sessions per week with an exercise physiologist for six weeks. In addition, you will be asked to exercise on your own up to an additional 120 minutes each week. At the end of the six week exercise intervention, you will undergo blood tests and a RPFNA.
This study is a six week study.
In order to help us make the most detailed assessment possible of your risk for breast or ovarian cancer, we ask that you provide us with as much of your personal and family health history as possible at your first appointment.
A completed Pedigree Form detailing your family's health history.
All relevant medical records. Find out how to obtain your medical record.
If you feel comfortable asking for your relatives' help in collecting their medical records, please send the above document to any relatives who have had breast or ovarian cancer (or their next of kin).
Family members can either send the records to you (if they do, please bring a copy to your appointment), or they can mail them directly to us at:
Attn: Fatiana CardosoCancer Genetics and Prevention ProgramDana-Farber Cancer Institute450 Brookline AvenueBoston, MA 02215
It helps if they indicate whose relative they are when sending records. We'll use this information to assess your family history.
Hannah Green, MPHhannah_green@dfci.harvard.edu
Dana-Farber Cancer InstituteCenter for Cancer Genetics and Prevention450 Brookline AvenueMS 1068Boston, MA 02215
Daniel Cramer, MD, ScD (gynecologist)Judy E. Garber, MD, MPH (medical oncologist)Junne Kamihara, MD (pediatrics)Beth Overmoyer, MD (medical oncologist)Huma Rana, MD (geneticist)Rochelle Scheib, MD (medical oncologist)Daniel Silver, MD, PhD (medical oncologist)
Andrea Farkas Patenaude, PhD (clinical psychologist)
Rhonda Grealish, RN, BSNHolly O’Kane, RN, NP
Emily Brown, MS, LGCAnu Chittenden, LGCCarly Grant, LGCClaire Healy, LGCElaine Hiller, LGCShelley McCormick, LGCIrene Rainville, PhD, LGCJaclyn Schienda, LGCKatherine Schneider, MPH, LGC
Lisa DiGianni, PhDSenior Research Scientistlisa_digianni@dfci.harvard.edu
Carleen Gentry, MA , CCRPResearch Project Managercarleen_gentry@dfci.harvard.edu
Maja Krsmanovic, BSClinical Research Coordinatormaja_krsmanovic@dfci.harvard.edu
Alexandra Paulo, BSClinical Research Coordinatoralexandra_paulo@dfci.harvard.edu
Elizabeth J. Root, BSResearch Project Managerelizabeth_root@dfci.harvard.edu
Cancer can occur for a variety of reasons, but some people have a higher risk because they have inherited a genetic susceptibility to it. In such families, a faulty gene associated with cancer is passed down from one generation to the next.
Gastrointestinal tumors include cancers of the colon, stomach, pancreas, and esophagus. There may be an inherited tendency to develop these diseases if:
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.
If you think that you have a high risk of developing a gastrointestinal cancer, the Dana-Farber Cancer Genetics and Prevention Program can help you create a personalized program to lower your risk.
It begins with a cancer risk evaluation, where you will meet with a genetic counselor and a doctor who specializes in cancers that can be inherited. They will talk with you about your family's history of cancer and what this means. Surgeons, oncologists, radiologists, and social workers are also available to talk with you and your family.
One goal of this evaluation is to help you learn what steps you can take to lower your risk of developing a gastrointestinal cancer.
If you are at risk for developing a gastrointestinal cancer, there are several ways for you to take control, including:
Any plan for lowering cancer risk must include cancer screening, which can help find cancer early or even prevent it entirely. The staff at the Cancer Genetics and Prevention Program can help you determine which types of cancer screenings are best for you, and how often you should have them.
Genetic testing is available and can be an important part of finding gene changes that could dramatically increase a person's risk of cancer. Knowing whether or not you carry a problem gene may influence how and when you and your family should have cancer screenings.
The Cancer Genetics and Prevention Program offers the opportunity to take part in clinical trials. These are studies that examine the best ways to prevent inherited gastrointestinal cancers and how to find these cancers early on, when treatment is most effective.
The following gastrointestinal cancer studies are being run through the Cancer Genetics and Prevention Program at Dana-Farber.
The purpose of the Families Affected with Colon and Endometrial cancers is to investigate the genetic basis of hereditary colon cancer predisposition syndromes, correlate them with the clinical presentations, with the ultimate goal of prevention of cancer in such families.
Any of the following individuals would be eligible to enroll in the study:
The current study is an ongoing registry, and we would need to continue the study for an indefinite period of time, since new genes and risk factors may be identified in the forthcoming years. However, once enrolled in the study, in general, you do not need to do anything active to continue to participate.
To enroll in the study, individuals would first need to review and sign a consent form for participating in the study and release of medical information, and provide information about the cancers in their family. In addition, the only other thing that would be required at the time of enrollment is a blood sample. This can be arranged as a clinic visit here at Dana-Farber, or, in some cases, the consent form and the blood kit can be mailed to the individuals, and then they can be mailed back to us in the self-addressed prepaid envelope provided.
Chinedu UkaegbuPhone: firstname.lastname@example.org
The purpose of this study is to identify and evaluate proteins and genes in the stool, blood, urine and/or tissue that can detect colon cancer as early, or earlier than colonoscopy, and may indicate the presence or increased risk of developing colon polyps or colon cancer.
Colon cancer is preventable if it is caught in its precancerous or earliest stages. Although current screening tests such as flexible sigmoidoscopies and colonoscopies have proven effective in helping to prevent colon cancer, many people do not undergo these screening procedures, and consequently, most colon cancers are not discovered until it is too late. If another reliable and accurate method were successfully developed to test for colon polyps and colon cancer, it would enable us to more effectively screen for and treat colon cancer.
To be eligible for this study, participants must be:
You will be asked to participate for about 6-9 months. All subjects will have one or two visits, which should last approximately 45-60 minutes.
Study coordinatorMargery Rosenblatt, MAmrosenblatt1@partners.org617-632 3354
The PAncreatic Cancer GEnes Study (PAGES) is an ongoing study at Dana-Farber created to advance pancreatic cancer research. Researchers on this project are particularly interested in identifying susceptibility genes for pancreatic cancer and to learn whether these genes manifest through exposure to cigarette smoking.
The result of this study will be the identification of the gene(s) that predispose to pancreatic cancer, which will lead to better screening and prevention methods in the future.
As part of this study, we are comparing genetic characteristics from blood and tissue samples collected from individuals who have been diagnosed with pancreatic cancer and the blood and tissue of their family members. Secondly, we will also study responses to a survey questionnaire about family history and lifestyle.
Dana-Farber is part of a consortium of sites across the U.S. and Canada collectively known as the Pancreatic Cancer Genetic Epidemiology (PACGENE) consortium. In addition to Dana-Farber, members of this consortium include the Mayo Clinic, John Hopkins University, M.D. Anderson, Creighton University, Karmanos Cancer Institute, and University of Toronto/Mount Sinai Hospital. Work on this project is funded by the National Cancer Institute.
Individuals with first-degree blood relatives who have had pancreatic cancer are at a significantly higher risk of getting the disease than someone with no family history of pancreatic cancer. This risk is even higher when there have been multiple cases of pancreatic cancer within a family. There is evidence of a genetic basis to pancreatic cancer. By knowing this hereditary factor we will be able to increase our understanding of the disease, screening and prevention methods.
Patient confidentiality is of the utmost importance at Dana-Farber. All information we have about each participant, including the blood sample, will be kept entirely confidential. This information will be provided to others only with the individual's written permission. Being part of, or choosing not to be part of a study, will in no way affect health care or treatment at Dana-Farber or appear on health insurance records. Participation is entirely voluntary and participants may request to be taken out of the study at any point.
Pancreatic Cancer Action NetworkThe Lustgarten Foundation (foundation for pancreatic cancer research)Johns Hopkins University Pancreas Web site
If you wish to participate or learn more about the study, please contact either:
Sapna Syngal MD, MPHPrincipal InvestigatorPhone: 617-632-5022Fax: 617-632-4088
Chinedu Ukaegbu, MBBS, MPHProject ManagerPhone: 617-632-6355Fax: 617-632-3161
CAPS is a review of prevention approaches for pancreatic cancer screening.
Participants who are considered high risk for pancreatic cancer due to a family history or genetic mutation undergo genetic counseling and pancreatic screening. The study aims to find the best and most sensitive screening modality among a variety of techniques.
Project IRIS was created to explore issues involving genetic testing and how it affects the way in which individuals and their families use genetic information in their lives.
The study focuses on:
All individuals who are planning to undergo genetic testing for inherited risk of breast, ovarian, colon or other gastrointestinal (digestive system) cancers are eligible to participate in IRIS.
IRIS is questionnaire study. We ask participants to complete a questionnaire:
The purpose of this study is to gain knowledge about specific proteins and genes found in the blood, urine and tissue of patients who have been diagnosed with Barrett's esophagus. By following patients and obtaining samples over time, these proteins and genes may indicate the progression of Barrett's esophagus to esophageal cancer.
There is limited knowledge about the way Barrett's esophagus behaves and why some cases progress to cancer and more often, why it does not. By conducting a long-term study of people with Barrett's esophagus, we will be able to can learn more about how the condition develops over time.
You will be part of the study for the day of the endoscopic procedure, and for each endoscopic procedure up to five years, unless you have progressed to low or high-grade dysplasia or esophageal cancer.
Individuals who are found to carry a BRCA or Lynch syndrome-related gene mutation can invite family members to view a website that contains information about the genetic syndrome and how this could impact their health.
Family members who participate are asked to view the website and complete a short survey. The purpose of this study is to determine whether individuals find this method of communication more helpful than traditional methods.
Claire Healy, MS, CGC orMonica Dandapani, MS, CGC617-632-4363
In order to help us make the most detailed assessment possible of your risk for gastrointestinal cancer, we ask that you provide us with as much of your personal and family health history as possible at your first appointment.
Please bring the following information to your first appointment:
If you feel comfortable asking for your relatives' help in collecting their medical records, please send the above document, along with the sample request letter, to any relatives who have had breast or ovarian cancer (or their next of kin).
Attn: Fatiana CardosoGastrointestinal Cancer Genetics and Prevention ProgramDana-Farber Cancer Institute450 Brookline AvenueBoston, MA 02215
Please also bring to your first appointment:
You or your primary physician can send or fax these items to the address listed below. Please call the clinic office to ensure that all materials have arrived in advance of your appointment.
Gastrointestinal Cancer Genetics and Prevention ProgramDana-Farber Cancer Institute450 Brookline AvenueBoston, MA 02215Phone: 617-632-2178Fax: 617-632-3715
Joel Goldberg, MD (surgeon)Ramona Lim, MD (gastroenterologist)Huma Rana, MD (geneticist)Sapna Syngal, MD, MPH (gastroenterologist)Matthew Yurgelun, MD (medical oncologist)
Margaret Klehm, RN, MPH, MSN, FNP
Victoriana Curry, BAClinical Research Coordinatorvictorianak_curry@dfci.harvard.edu
Denesia Parris, MPHClinical Research Coordinatordenesiad_parris@dfci.harvard.edu
Margery Rosenblatt, MAResearch Project Managermrosenblatt1@partners.org
Chinedu Ukaegbu, MBBS, MPHResearch Project Managercukaegbu@partners.org
Project FLAG is a research study to learn more about gastrointestinal stromal tumors (GIST) that may run in families, also known as hereditary GIST. Since only a small number of families with hereditary GIST have been described in the medical literature, not much is known about hereditary GIST. If you have a diagnosis of GIST and are 18 years or older, whether or not you have any cancer in your family, you are eligible for FLAG.
The goals of Project FLAG are to:
You can join Project FLAG if:
What is involved?
You MAY be asked to:
For more information about Project FLAG visit www.projectflag.org or contact Project FLAG's Study Manager:Elizabeth Root800-828-6622, option email@example.com
In this video, George Demetri, MD and Suzanne George, MD describe the aims of Project FLAG and explain how patients with GIST can get involved.
The purpose of the Li-Fraumeni Syndrome (LFS) registry study is to collect information on personal cancer history, family history, and blood and tissue specimens from patients and family members with Li-Fraumeni syndrome. The registry will be a repository of data and specimens available for researchers who are working to understand the genetic basis, prevention and treatment of Li-Fraumeni syndrome.
All individuals who have the rare inherited Li-Fraumeni Syndrome, or are part of a family with LFS, are eligible to participate in the study.
The Li-Fraumeni syndrome registry is a questionnaire study. You will be asked to complete a questionnaire and a Family History Form. You will be asked to donate three tubes of blood (approximately six tablespoons) for use in research.
Elizabeth J. Rootelizabeth_root@dfci.harvard.edu800-828-6622, option 5or 617-582-8833
Dana-Farber Cancer Institute, 450 Brookline Avenue, Boston, MA 02215 | Call us toll-free: