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.
About the Cancer Genetics and Prevention Program
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.
Breast and Ovarian Cancer Genetics and Prevention Program
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.
Gastrointestinal Cancer Genetics and Prevention
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.
Project FLAG: Families Learning About GIST
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.
Li-Fraumeni Syndrome
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.
Breast and Ovarian Cancer Genetics and Prevention
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.
Understanding your risk
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:
- You have any of the strongest risk factors: an altered breast cancer gene or a biopsy showing particular findings.
- You have a parent, brother, sister, or child who has been diagnosed with breast and/or ovarian cancer, especially if they were younger than 50 when diagnosed.
- At least two of your other close relatives (grandparent, aunts, cousins) have had breast cancer before 50 or ovarian cancer at any age.
- You or any family member has had breast or ovarian cancer before menopause.
- You have had a pre-cancerous condition found on breast biopsy, such as atypical ductal or lobular hyperplasia, or lobular carcinoma in situ of the breast.
- You or a family member had a genetic test showing that you carry a mutation in the BRCA1 or BRCA2 gene.
- Your family is known to have a hereditary cancer syndrome, such as Cowden syndrome or Li-Fraumeni syndrome. Both are associated with other rare cancers in addition to breast cancers at young ages.
Our services
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.
Cancer screening
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
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.
Clinical research
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.
Research studies
Here are some of the breast and ovarian cancer studies currently underway at the Cancer Genetics and Prevention Program at Dana-Farber.
Evaluation of a PARP Inhibitor for Breast Cancer Prevention in BRCA Mutation Carriers
The goal of this trial is to evaluate a PARP inhibitor as a potential breast cancer preventive agent in women at increased breast cancer risk based on an inherited mutation in a BRCA gene.
PARP inhibitors are a class of drug that inhibits the enzyme Poly ADP ribose polymerase (PARP). Several forms of cancer are more dependent on PARP than regular cells, making PARP a possible target in cancer prevention.
This brief study will be conducted for healthy women who have BRCA mutations and are planning prophylactic mastectomy. Women will be asked to take a medication for four weeks leading up to their already planned surgery. Women will also be invited to participate in an optional research breast biopsy and random periareolar fine needle aspirate (RPFNA) at the beginning and end of the trial.
Who is eligible?
Individuals eligible to participate in this study include women:
- Age 21 or older
- With a documented mutation in BRCA1 or BRCA2
- With a surgical date for planned prophylactic mastectomy
- Are willing to take the study medication for 28 days and participate in medical screenings and follow-up contacts by study staff
- Who agree to use a reliable contraceptive method or be sexually abstinent while taking the study agent, if they are of childbearing potential
How long is the study?
The study will last for 28 days prior to pre-planned surgery.
What is involved?
Prior to the study and within five days of pre-planned surgery, participants will need a physical exam and medical history, including a detailed review of current medications, blood work, a chest X-ray, and an EKG. Participants will be invited to participate in an optional breast biopsy or RPFNA prior to study and again at the time of surgery. Participants will also be contacted at pre-set intervals during the four-week trial.
How do I get more information?
Hannah Green, MPH
hannah_green@dfci.harvard.edu
617-632-2359
IRIS: Impact of Risk Inheritance Study
Project IRIS was created to explore issues involving genetic testing and how it affects the way individuals and their families use genetic information in their lives.
The study focuses on:
- Understanding cancer risk
- Cancer screening and prevention practices
Who is eligible?
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.
What is involved?
IRIS is a questionnaire study. We ask participants to complete a questionnaire:
- When they have decided to have genetic testing, or at the visit when blood is drawn for the genetic test
- Two weeks after receiving their genetic test results
- Three months after receiving their genetic test results
- Once a year for five years.
How do I get more information?
Margery Rosenblatt
margery_rosenblatt@dfci.harvard.edu
617-632-3354
Neoadjuvant Trial of Lapatinib for the Treatment of Women with DCIS Breast Cancer
This study aims to learn more about the effectiveness of lapatinib for the treatment of ductal carcinoma in situ breast cancer.
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 begin to collect information and try to learn more about the most effective dose of lapatinib, whether the drug will prevent the spread of cancer, and the other changes to breast cancer tissue and breast cancer cells.
Who is eligible?
Women age 21 or older who are DCIS positive for either EGFR or erbB2 (or both) will be considered for enrollment.
How long is the study?
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.
How can I get more information?
Carleen Gentry, MA
carleen_gentry@dfci.harvard.edu
617-632-5399
Project ACT: Analyses of Collected Tissue
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.
Who is eligible?
- Participation is open to individuals 18 years and older, who have tested positive for a BRCA 1 or 2 mutation or any other high risk individual
- You must have had or be planning to have a prophylactic (risk-reducing or preventive) mastectomy (removal of the breast tissue)
OR
- Individuals 18 years and older
- You must be planning to have breast reduction surgery (mammoplasty)
How long is the study?
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.
What is involved?
- Complete health history questionnaires
- Allow part of your removed breast tissue to be donated to research
- Participate in an optional portion of study involves donating cellular breast material or a skin biopsy
How can I get more information?
Kristen Kuzia
Kristen_Kuzia@dfci.harvard.edu
800-828-6622, option 4
617-632-6129
PROSE: Prevention and Observation of Surgical Endpoints
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.
Who is eligible to participate?
- Women who are BRCA1 or BRCA2 mutation carriers
- Family members of women who have a known BRCA1 or BRCA2 mutation, unless they have been tested and found not to share the mutation identified in their relatives
How long is the study?
We hope that women will agree to be followed for five years.
What is involved?
A questionnaire is mailed once a year for five years. The average time to complete each questionnaire is 10 to 15 minutes.
How can I get more information?
Susan Roux
susan_roux1@dfci.harvard.edu
800-828-6622, option 3
617-632-6693
REACH: Risk Evaluation & Cancer History
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.
Who is eligible to participate?
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:
- Personal or family history of breast cancer and/or ovarian cancer associated with at least a 20 percent chance of having a mutation in one of the known "breast cancer" genes.
- You, or a close family member, have a mutation in one of the known genes associated with increased cancer risk (BRCA1, BRCA2, p53, chk2, PTEN). However, if a test was positive in your relative, you must either be positive as well, or not have been tested yourself to be eligible for REACH.
- Family history consistent with Li-Fraumeni Syndrome (LFS), a rare inherited cancer syndrome including breast cancer, but also other cancers.
- Personal history of more than one cancer, so-called multiple primary cancers.
- Personal history of precancerous lesions on breast biopsy, diagnosed before age 50. Pre-cancerous lesions include:
- Ductal carcinoma in situ (DCIS)
- Lobular carcinoma in situ (LCIS)
- Atypical ductal hyperplasia (ADH)
- Atypical lobular hyperplasia (ALH)
How long is the study?
One-time, approximately 30 minutes to fill out the questionnaire and have your blood drawn.
What is involved?
- 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.
How can I get more information?
Susan Roux
susan_roux1@dfci.harvard.edu
617-632-6693
Statins and Breast Cancer Biomarkers
This study looks at the relationship between the anti-inflammatory activity of statins and the reduction of cancer risk.
Why is this study being done?
Atorvastatin (Lipitor) is a drug approved by the U.S. Food and Drug Administration (FDA) that belongs to a class of drugs called statins. Statins have been useful in lowering cholesterol and rates of coronary heart disease. Statins also appear to reduce heart disease risk through their anti-inflammatory actions. It is thought that the anti-inflammatory activity of statins may be important in reducing cancer risk.
The purpose of this study is to determine if taking Atorvastatin has an effect on breast density, a known risk factor for developing breast cancer.
What is Atorvatsatin?
Atorvastatin, also referred to as Lipitor, is one member of a family of medicines called "statins." Atorvastatin is currently FDA-approved for treatment of high cholesterol and prevention of heart attacks and has been in use for over a decade.
Who can participate in this study?
This study is open to pre-menopausal women 35 years and older who are at increased risk of developing breast cancer.
What is involved in participating?
After you have signed the consent form, tests will be done before you begin taking Atorvastatin.
These tests include:
- Medical history
- Physical examination
- Blood tests
- A mammogram
- Questionnaires about your diet and lifestyle
You will be randomized (a 50/50 chance) to take either Atorvastatin or a placebo (sugar pill) daily for one year.
While you are on the study you will undergo an annual mammogram, as well as quarterly blood draws.
How can I get more information?
Carleen Gentry
carleen_gentry@dfci.harvard.edu
617-632-5399
New patient information
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.
Please bring the following information to 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 Cardos
Cancer Genetics and Prevention Program
Dana-Farber Cancer Institute
450 Brookline Avenue
Boston, MA 02215
It helps if they indicate whose relative they are when sending records. We'll use this information to assess your family history.
Please also bring to your first appointment:
- Mammogram films and corresponding written reports for your two to three most recent mammograms. Please do not send films ahead of time. We cannot take responsibility for films that may get lost.
- Pelvic ultrasound reports
- Family cancer history information, including pathology reports
- Biopsy slides and written pathology reports. Please contact our new patient coordinator to discuss where the slides should be sent prior to your appointment. This will ensure that the pathology department can review them before your arrival.
Contact us
To schedule an appointment
Breast Cancer Genetics and Prevention Program
New patients
617-632-2178
Follow-up appointments
Drs. Garber and Silver
617-632-5961
Dr. Overmoyer
617-632-3495
Dr. Scheib
617-632-2335
Familial Ovarian Cancer Program
New patients
617-632-2178
Follow-up appointments
617-632-3669
Mailing address
Dana Farber Cancer Genetics and Prevention Program
Dana-Farber Cancer Institute
450 Brookline Avenue
Boston, MA 02215
Our staff
Disease Center Leader
Judy Garber, MD, MPH
Breast Cancer Genetics and Prevention Program
Beth A. Overmoyer, MD, FACP
Rochelle G. Scheib, MD
Daniel Silver, MD, PhD
Familial Ovarian Cancer Program
Daniel Cramer, MD
Genetic Counselors
Emily Brown, MS, LGC
Anu Chittenden, MS, LGC
Monica Dandapani, MS, LGC
Carly Grant, MS, LGC
Claire Healey, MS, LGC
Elaine Hiller, MS, LGC
Irene Rainville, MS, PhD, LGC
Katherine Schneider MPH, LGC
Administrative Assistant to Genetic Counselors
Jennifer Wiernicki
Nurse Practitioner
Holly O'Kane, RN, MSN, AOPN
Program Nurse
Rhonda Grealish, RN, BSN
Genetics Research Study Staff
Lisa DiGianni, PhD
Senior Research Scientist
lisa_digianni@dfci.harvard.edu
Serena Masciari, MD, M.Sc
Research Scientist
serena_masciari@dfci.harvard.edu
Elizabeth Root, BS
elizabeth_root@dfci.harvard.edu
Study Manager
Project: PACE
617-582-8833
Susan Roux, MPH
Project Manager
Projects: REACH, PROSE, breast cancer genetics
susan_roux1@dfci.harvard.edu
617-632-6693
Breast Cancer Prevention Research Staff
Carleen Gentry, MA
Sr. Clinical Research Coordinator
carleen_gentry@dfci.harvard.edu
617-632-5399
Hannah Green, MPH
Sr. Program Manager
hannah_green@dfci.harvard.edu
617-632-2359
Kristen Kuzia, BS
Clinical Research Coordinator
Project: ACT
kristen_kuzia@dfci.harvard.edu
617-632-6129
Gastrointestinal Cancer Genetics and Prevention Program
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.
Understanding your risk
Gastrointestinal tumors include cancers of the colon, stomach, pancreas, and esophagus. There may be an inherited tendency to develop these diseases if:
- You have a parent, brother, sister, or child who has been diagnosed with a gastrointestinal cancer or uterine cancer.
- You or any family member have had a gastrointestinal cancer or uterine cancer before the age of 50.
- You or a relative have had more than one cancer (including colorectal cancer).
- You or a relative have had pre-cancerous conditions such as polyps in the colon or stomach.
- You have a known history of a hereditary colon cancer syndrome, such as:
- hereditary non-polyposis colon cancer (HNPCC)
- familial adenomatous polyposis (FAP)
- juvenile polyposis
- Gardner syndrome
PREMM Model
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.
Our services
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.
What you can do
If you are at risk for developing a gastrointestinal cancer, there are several ways for you to take control, including:
Cancer screening
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
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.
Clinical research
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.
Research Studies
The following gastrointestinal cancer studies are being run through the Cancer Genetics and Prevention Program at Dana-Farber.
Colon cancer studies
FACES: Families Affected with Colon and Endometrial cancers
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.
Eligibility criteria
Any of the following individuals would be eligible to enroll in the study:
- Individuals diagnosed with colorectal cancer (CRC) at a young age (under 50)
- Individuals with one or more first or second degree relatives with CRC diagnosed at a young age under 50)
- Individuals with more than 10 colonic polyps
- Individuals with a personal or family history of CRC, and HNPCC or FAP related cancers, such as endometrial, ovarian, small intestine, stomach, liver, brain, thyroid or desmoid tumors
- Individuals diagnosed as having HNPCC, FAP, Peutz-Jeghers syndrome, Juvenile polyposis syndrome, or other hereditary colon cancer syndrome
- Individuals who may be unaffected but have been found to carry a hereditary CRC gene mutation.
Length of study commitment
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.
Project manager
Chinedu Ukaegbu
Phone: 617-632-6355
cukaegbu@partners.org
Evaluation of Stool and Blood-Based Markers for the Early Detection of Colorectal Cancers
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.
Eligibility criteria
To be eligible for this study, participants must be:
- Adults at least 18 years old
- Patients scheduled for a full colonoscopy
- Able to physically tolerate removal of up to 58 ml of blood at one to two different time points
- Willing to collect 1-2 stool samples and prepare a FOBT card and five specimen vials from each stool sample
- Patients who have not had any surgery, radiation, or chemotherapy for their current colorectal cancer
- Patients who have no history of Inflammatory Bowel Disease
- Patients who have been cancer free for three years, with certain exceptions
- Willing to sign informed consent
Length of study commitment
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.
What is involved
- Blood draw, collection of urine, stool and rectal mucus samples, biopsies of normal tissue and/or lesions, and questionnaires;
- Review of medical records to collect data about your colonoscopy, treatments, and/or procedures every six months until the study ends.
Study coordinator
Margery Rosenblatt, MA
mrosenblatt1@partners.org
617-632 3354
Pancreatic cancer studies
PAGES: Clinical study for families with multiple cases of pancreatic cancer
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.
Who is eligible?
To be eligible for this study, participants must be:
- Individuals with or without pancreatic cancer, from families with one or more blood relatives with pancreatic cancer
- Spouses or relatives of deceased patients who had pancreatic cancer
- At least 18 years old.
What does participation in PAGES involve?
- A signed consent form
- Completing a questionnaire about your pancreatic cancer risk factors and family history of pancreatic cancer
- Permission for us to obtain relevant medical records to confirm your diagnosis
- A donation of blood (about four tablespoons) that can be drawn outside of Dana-Farber
We may also ask for:
- Permission to contact family members who may be of interest to the study
- Relevant medical records of deceased individuals
- Your permission to use excess tissue samples collected from previous procedures or biopsies
Why study pancreatic cancer in families?
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.
Confidentiality
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.
Related links
Pancreatic Cancer Action Network
The Lustgarten Foundation (foundation for pancreatic cancer research)
Johns Hopkins University Pancreas Web site
Study contacts
If you wish to participate or learn more about the study, please contact either:
Sapna Syngal MD, MPH
Principal Investigator
Phone: 617-632-5022
Fax: 617-632-4088
Chinedu Ukaegbu, MBBS, MPH
Project Manager
Phone: 617-632-6355
Fax: 617-632-3161
CAPS (Cancer of the Pancreas Screening study)
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.
Denesia Parris
Research Assistant
Phone: 617-632-4788
Fax: 617-632-3161
Esophageal Cancer Studies
IRIS: Impact of Risk Inheritance Study
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:
- Understanding cancer risk
- Cancer screening and prevention practices
Who is eligible?
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.
What is involved?
IRIS is questionnaire study. We ask participants to complete a questionnaire:
- When they have decided to have genetic testing, or at the visit when blood is drawn for the genetic test
- Two weeks after receiving their genetic test results
- Three months after receiving their genetic test results
- Once a year for five years
How do I get more information?
Margery Rosenblatt
margery_rosenblatt@dfci.harvard.edu
617-632-3354
Biomarkers predictive of Barrett's esophagus progression
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.
Eligibility criteria
To be eligible for this study, participants must be:
- Adults over 18
- Patients with active Barrett's esophagus, without a history of low and high-grade dysplasia, and/or esophageal cancer
- Patients who have not yet undergone esophagectomy
- Patients not currently on active chemotherapy/radiation treatment
- Patients currently NOT on anticoagulant treatment
- Patients who have been cancer-free for three years, with certain exceptions
- Able to tolerate removal of 34 ml of blood
- Willing to permit extra biopsies and brushings at endoscopic procedure
- Willing to permit extra biopsies at future endoscopic visits
- Able and willing to complete questionnaires
- Willing to sign informed consent form
Length of study
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.
What is involved
- Blood draw, urine collection, extra biopsies and brushings taken during endoscopic procedure, questionnaires
- Repeat sample collection at future endoscopic procedures
Study coordinator
Margery Rosenblatt
margery_rosenblatt@dfci.harvard.edu
617-632-3354
Other studies
Improving Communication of Genetic Test Results
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.
For more information
Claire Healy, MS, CGC or
Monica Dandapani, MS, CGC
617-632-4363
New patient information
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:
- The completed Pedigree Form detailing your family's health history.
- All relevant medical records to your appointment. 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, along with the sample request letter, 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:
Gastrointestinal Cancer Genetics and Prevention Program
Dana-Farber Cancer Institute
450 Brookline Avenue
Boston, MA 02215
Please also bring to your first appointment:
- Colonoscopy, sigmoidoscopy, or upper endoscopy reports
- Family cancer history information, including pathology reports
- Biopsy slides and written pathology reports. Slides from biopsies must be sent to the address listed below prior to your appointment so that the pathology department can review them before your arrival
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 Program
Dana-Farber Cancer Institute
450 Brookline Avenue
Boston, MA 02215
Phone: 617-632-2178
Fax: 617-632-3715
Contact us
To schedule an appointment
For new patients:
Phone: 617-632-2178
Fax: 617-632-3433
For follow-up appointments:
Phone: 617-632 5022
Fax: 617-394 2853
Mailing address:
Dana-Farber Gastrointestinal Cancer Genetics and Prevention Program
Dana-Farber Cancer Institute
450 Brookline Avenue
Boston, MA 02215
Our Staff
Physicians
Sapna Syngal, MD, MPH, Director
Joel Edward Goldberg, MD
Lim Ramona, MD
Program Nurse
Rhonda Grealish, RN, BSN
Genetic Counselors
Emily Brown, MS, LGC
Anu Chittenden, MS, LGC
Monica Dandipani, MS, LGC
Carly Grant, MS, LGC
Claire Healy, MS, LGC
Elaine Hiller, MS, LGC
Shelley McCormick, MS, LGC
Irene Rainville, MS, PhD, LGC
Katherine Schneider, MPH, LGC
Research Staff
Serena Masciari, MD, M.Sc.
Research Scientist
Li-Fraumeni Syndrome Registry
serena_masciari@dfci.harvard.edu
617-632 6821
Rohit Ojha, DrPH, MPH
Research Fellow
rohit_ojha@dfci.harvard.edu
617-582-7298
Denesia Parris
Research Assistant: PAGES (The Pancreatic Genes Study)
denesiad_parris@dfci.harvard.edu
617-632-4788
Margery Rosenblatt, MA
Project Manager: IRIS (Impact of Risk Inheritance Study), Barrett's study, Stool and Blood markers study
mrosenblatt1@partners.org
617-632 3354
Chinedu Ukaegbu, MBBS, MPH
Project Manager:
FACES (Families Affected with Colon and Endometrial cancers)
PAGES (The PAncreatic GEnes Study)
cukaegbu@partners.org
617-632 6355
Project FLAG: Families Learning About GIST
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:
- Look at which genes cause GISTs to develop in families
- Study the cancer risk in families with hereditary GIST
- Look at clues that may be related to hereditary GIST, such as non-cancerous skin growths
- Gain information that will be useful to provide cancer screening recommendation to those at greater risk of developing GIST
You can join Project FLAG if:
- You are 18 years or older
- You have been diagnosed with GIST
What is involved?
- Sign the FLAG consent form
- Complete the FLAG questionnaire
- Provide an optional blood or saliva sample
- Have your medical records reviewed
You MAY be asked to:
- Speak with a FLAG genetic counselor
- Decide whether to have your sample tested for GIST genes and receive your results
For more information about Project FLAG visit www.projectflag.org or contact Project FLAG's Study Manager:
Elizabeth Root
800-828-6622, option 1
elizabeth_root@dfci.harvard.edu
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.
Li-Fraumeni Syndrome Registry Study
Why is this study being done?
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.
Who is eligible?
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.
What is involved?
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.
How can I get more information about the Li-Fraumeni syndrome registry study?
Serena Masciari, MD, MSc
serena_masciari@dfci.harvard.edu
800-828-6622, option 5
or 617-632-6821