Genetic testing for cancer risk assessment was first offered in 1996 for a limited number of genes. Cancer genetics has changed significantly since then. Stephanie Hicks, MS, CGC, discusses the role of genetic testing in the cancer setting and how it has evolved over time.
Explore the Center for Cancer Risk Assessment
Our team provides comprehensive care for patients and families that have hereditary cancer predisposition. In addition to providing comprehensive screening, prevention options and support for patients and families with hereditary cancer predisposition genes, we help to identify families that may have a hereditary cancer syndrome and, when indicated, provide genetic testing. Our certified and licensed genetic counselors are experienced in helping patients gather the information they need to make informed healthcare decisions. We offer hereditary cancer risk assessment, education, genetic testing and coordinated medical care across a variety of specialty programs.
Speaking with trained and qualified genetic counselors is of critical importance. Here at Mass General we understand that value and have a significant presence of genetic counselors in cancer to ensure that the right test is administered to the right person at the right time. And, importantly, to ensure that the test results are interpreted accurately and tailored to each patient. Having accurate data and applying it correctly to treatment decisions is of the utmost importance to Mass General. Making sure that you have the best information and can participate in making intelligent, informed decisions is our mission.
Convenient, Multidisciplinary Care
Center for Cancer Risk Assessment (CCRA) patients have access to all of the resources of Mass General Hospital, which means a multidisciplinary team of specialists is available to manage every aspect of your care. If you learn you have a genetic predisposition to cancer, your options for care may include:
- Ongoing surveillance and monitoring
- Immediate action and treatment at the appropriate time
- Prophylactic surgery, care and follow-up
- Genetic counseling and testing for family members
- Access to the Mass General Fertility Center's Preimplantation Genetic Diagnosis Program
Developing Better Therapies through Research
Like all treatment centers within the Cancer Center, our program is highly involved in research. We lead and participate in studies to develop a better understanding of the genetic causes of several cancer syndromes as well as studies to advance cancer treatment and screenings.
Learn more about the Center for Cancer Risk Assessment Programs:
Breast and Ovarian Cancer Genetics Program
Helps to identify and provide comprehensive, coordinated medical care for families that have a hereditary breast and/or ovarian cancer syndrome.
Endocrine Tumor Genetics Program
Helps to identify and provide comprehensive, coordinated medical care for families that have a hereditary risk for endocrine tumors.
Familial Renal Cell Carcinoma and von Hippel-Lindau Disease Program
Helps to identify and provide comprehensive, coordinated medical care for families that have a hereditary renal (kidney) cancer syndrome.
Gastrointestinal Cancer Genetics Program
Helps to identify and provide comprehensive, coordinated medical care for families that have a hereditary colon or gastrointestinal cancer syndrome.
Melanoma Genetics Program
Helps to identify and provide comprehensive, coordinated medical care for families that have a hereditary melanoma syndrome.
Neuro-Oncology Genetics Program
Helps to identify and provide comprehensive, coordinated medical care for patients and families with neurofibromatosis (NF1, NF2, schwannomatosis) as well as those with strong personal and family histories of cancers of the central nervous system.
Prostate Cancer Genetics Program
Helps to identify and provide comprehensive, coordinated medical care for families that have a hereditary predisposition to prostate cancer.
Genetic Testing Fact Sheets
View our library of fact sheets about inherited cancer risk and genetic testing. Fact sheets are available in multiple languages (Arabic, Chinese, English, Haitian Creole, Portuguese, Russian, Spanish).
We at the Center for Cancer Risk Assessment recognize the history of injustice and systemic racism in our society. By continually examining our own privileges and implicit biases we strive to maintain an environment of inclusivity for ourselves, patients, colleagues, students/trainees and the community that respects diverse backgrounds and life experiences. We further pledge to define and accomplish specific tasks that demonstrate our commitment to this principle.
Meet the Team
Meet the CCRA's team of physicians and genetic counselors.
- Medical Co-Director, Center for Cancer Risk Assessment
- Director, High-Risk GI Cancer Clinic
- Professor of Medicine, Harvard Medical School
- Program Director, Breast Medical Oncology
- Professor of Medicine, Harvard Medical School
- Clinical Director, Breast and Ovarian Cancer Genetics
- Director, Cancer Center Genetics Program; Senior Genetic Counselor
What does it mean to have an inherited risk for cancer? What is genetic counseling? Find out the answers to these questions and more, answered by our team of certified genetic counselors.
Learn about the Mind Body Program for Individuals with Hereditary Cancer Syndromes.
Read about the purpose of genetic counseling and find a genetic counselor in your area.
News & Updates
New sessions begin Sept 20th, 2022. This program is designed for individuals without a cancer diagnosis but who carry a genetic variant putting them at higher risk for cancer. The program will provide critical tools to help individuals cope with the experience of being identified to be at high genetic risk for cancer.
New breast screening recommendations related to the BARD1 gene and breast cancer risk
Over time, new research can lead to changes in cancer screening recommendations for people who have pathogenic variants (also known as mutations) in genes linked to cancer. A recent example of this is the BARD1 gene.
Previous research suggested that pathogenic variants in the BARD1 gene could cause an increased risk for breast cancer. For a time, no specialized screening recommendations were available for people with BARD1 pathogenic variants because the link remained uncertain. Recent research has provided more evidence linking BARD1 and breast cancer risk, particularly for triple-negative (ER, PR, and HER-2) breast cancer.
In light of this new evidence, the National Comprehensive Cancer Network (NCCN) now recommends that those with a BARD1 pathogenic variant consider annual breast MRIs in addition to regular annual mammograms starting at age 40.
While this new information may change cancer screening recommendations for those with a BARD1 pathogenic variant, some uncertainty remains. More research is needed to better understand the lifetime breast cancer risk for people with BARD1 pathogenic variants.
If you would like to schedule an appointment with a genetic counselor to discuss how advances in cancer genetics may change your care or to discuss the option of genetic testing, please contact the Center for Cancer Risk Assessment at 617-724-1971.
Multi-gene panel testing for hereditary ovarian cancer predisposition
Have you considered whether your genetic risk assessment for hereditary ovarian cancer is up to date?
Genetic testing technology tends to change rapidly. Multi-gene panels are one technological advancement that has reshaped the landscape of genetic testing in recent years. Multi-gene panels allow many hereditary cancer risk genes to be analyzed by a single test. Before multi-gene panels became available, BRCA1 and BRCA2 were commonly the only genes tested in individuals with a personal and/or family history of ovarian cancer.
Within the last five years, multi-gene panels have been widely adopted as a tool for evaluating hereditary cancer risk. Besides BRCA1 and BRCA2, several other genes are typically included in an ovarian cancer gene panel. These include genes linked to Lynch syndrome (MLH1, MSH2, MSH6, PMS2, and EPCAM), which confer an estimated 4-24% lifetime risk of ovarian cancer. Additionally, ovarian cancer gene panels often include RAD51C, RAD51D, and BRIP1, genes that confer an estimated 6-8% lifetime risk of ovarian cancer.
If you or a relative has had ovarian cancer and it has been more than 3-5 years since your last genetic risk assessment, you may be a candidate for updated genetic testing. If you would like to schedule an appointment with a genetic counselor to discuss the option of genetic testing in more detail, please contact the Center for Cancer Risk Assessment at 617-724-1971.
Updated risk assessment guidelines for hereditary prostate cancer.
Recent studies have uncovered important new information about hereditary prostate cancer highlighting the value of offering genetic testing to men with prostate cancer.
One important study (Prichard et. al, 2016) showed that about 12% of men with metastatic prostate cancer carry mutations in genes involved with DNA repair. The study not only revealed new hereditary prostate cancer genes, but also demonstrated that hereditary prostate cancer may be more common than previously understood.
Additional studies have defined the features of hereditary prostate cancer including: metastatic prostate cancer, high-grade prostate cancer (Gleason score of 7 or higher), and men with prostate cancer who also have a family history of breast, ovarian, pancreatic, prostate or other cancers. This has led to a better understanding of which men are most likely to have a hereditary predisposition to prostate cancer and should be offered genetic testing.
There are several reasons why men with prostate cancer may benefit from genetic testing. First, the results of genetic testing can guide decision-making related to the prostate cancer treatment. Next, results could uncover that the patient is at increased risk for other cancer types and would benefit from additional cancer screenings. Finally, the results of genetic testing can have important medical implications for family members. With this new evidence, many insurance companies cover the cost of genetic testing.
The National Comprehensive Cancer Network (NCCN) now recommends that anyone with metastatic prostate cancer be referred for genetic counseling and consider to the option of genetic testing.
Given the large number of patients with prostate cancer who could benefit from genetic counseling and testing, the Center for Cancer Risk Assessment established the Hereditary Prostate Cancer Clinic in 2017, under the leadership of Dr. Matthew Smith, Oncologist and Director of the Genitourinary Malignancies Program in the Mass General Cancer Center. If you would like to schedule an appointment with a genetic counselor to discuss the option of genetic testing in more detail, please contact the Center for Cancer Risk Assessment at 617-724-1971.
Direct to Consumer (DTC) genetic testing: What to know and where to go?
Gifted an at-home genetic test during the holidays and now want to know more about your results? Ancestry and other at-home DNA testing services can be fascinating tools to learn more about yourself and your family, but the information can also be complex. It's important to consider that many at-home DNA tests are different from most clinical tests and, therefore, should not be used for clinical management without consulting a genetics professional. Here at MGH, our team specializes in the genetics of cancer risk for those who have a personal and/or family history of cancer, but there are genetic counselors who routinely provide consultations for DTC-related inquiries. We are always happy to put individuals in contact with the most appropriate providers for learning about their results.
If you have done or are considering an at-home DNA test, below are some resources that might address some of the unique questions that can arise regarding DTC testing:
- NSGC Webinar: "Ancestry and Other Direct-to-Consumer Genetic Testing”
- Watershed DNA is a company founded by genetic counselor Brianne Kirkpatrick, MS, LCGC. Visit her website to find resources and read her blog.
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