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Cancer Genetics

The Center for Cancer Risk Assessment provides comprehensive care for patients and families that have hereditary cancer predisposition.

Explore the Center for Cancer Risk Assessment

Overview

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.

Our Programs

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.

Hereditary Hematologic Malignancy Genetics Program
Helps to identify and provide comprehensive, coordinated medical care for families that have a hereditary risk for blood cancers.

Lynch Syndrome Screening and Treatment Program
Provides expert and lifelong care for individuals and families affected by Lynch 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.

Cancer Early Detection and Diagnostics Clinic

The Cancer Early Detection and Diagnostics Clinic at Mass General Cancer Center provides patients with comprehensive cancer diagnosis in one location, bridging the gap between clinical care and research in cancer early detection.

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).

View Fact Sheets

Commitment Statement

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.


Education & Resources

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.

Cancer Early Detection and Diagnostics Clinic

Cancer Early Detection and Diagnostics Clinic

This clinic provide patients with comprehensive cancer diagnosis in one location.

Counseling about Cancer

Counseling about Cancer

Kristen Shannon is a co-author of this book for genetic counselors and other providers.

Info for Mental Health Providers

Info for Mental Health Providers

View info for mental health providers caring for pts with hereditary cancer syndromes.

Genetic Testing Fact Sheets

Genetic Testing Fact Sheets

View our library of genetic testing fact sheets.

Mind Body Program

Mind Body Program

Learn about the Mind Body Program for Individuals with Hereditary Cancer Syndromes.

National Society of Genetic Counselors

National Society of Genetic Counselors

Read about the purpose of genetic counseling and find a genetic counselor in your area.

National Cancer Institute

National Cancer Institute

Information page on cancer genetics.

American Cancer Society

American Cancer Society

Patient-friendly information on hereditary cancer and genetics.

Genetics Home Reference

Genetics Home Reference

Consumer-friendly information on genetic syndromes.

GINAhelp

GINAhelp

Information on the Genetic Information Nondiscrimination Act of 2008.


Patient Story


Videos


News & Updates

National Family Health History Day

Thanksgiving is National Family Health History Day. Learn how Mass General Cancer Center’s genetic counselors can help you review patterns in your family health history. Read more.

Podcast: Genetic Counseling for Hereditary Breast Cancer

In this podcast, Allison Kurian, MD, MSc, FASCO, talks with Kristen Mahoney Shannon, MS, CGC, about what people should know about hereditary breast cancer, including what it is, how to know whether you might be at risk for this genetic condition, and what to expect if genetic counseling is recommended for you.

Listen here

Counseling About Cancer: Strategies for Genetic Counseling - New Book for Genetic Counselors and Providers

Congratulations to Kristen Mahoney Shannon, MS, LCGC, senior genetic counselor and director of the Center for Cancer Risk Assessment at Mass General Cancer Center, who is a co-author of the newly released book, Counseling About Cancer: Strategies for Genetic Counseling. A key resource for all genetic counselors and other healthcare providers, this comprehensive reference has been completely updated and reorganized for its fourth edition.

Genetic testing can be a powerful tool in assessing individual cancer risk and creating robust medical plans, but can also be a complex process, with personal and familial factors carrying real emotional weight. As such, genetic counseling for patients and their families during the process of genetic testing is critical. Counseling about Cancer: Strategies for Genetic Counseling is the only comprehensive resource available for clinicians who want to understand and apply these dimensions of patient care. This updated and reorganized edition provides detailed information designed to be incorporated in a variety of clinical and healthcare contexts. Updated with the latest guidance and research, it promises to continue as the indispensable guide to this challenging subject.

“I am grateful to have spent the past 25+ years learning from my patients and colleagues at the Mass General Cancer Center and recognize the importance of passing on the knowledge of cancer genetic counseling to others in the field. My hope is that this textbook will be a key resource to help others recognize the importance of genetics in the treatment of patients with cancer,” said Kristen Mahoney Shannon, MS, LCGC.

Counseling About Cancer: Strategies for Genetic Counseling is co-authored by Katherine A. Schneider, MPH, CGC, senior genetic counselor at Dana-Farber Cancer Institute, Anu Chittenden, MS, CGC, senior genetic counselor and manager for genetic counselors at Dana-Farber Cancer Institute, and Kristen Mahoney Shannon, MS, CGC, senior genetic counselor and director of the Center for Cancer Risk Assessment at Mass General Cancer Center, and is published by Wiley.

Learn more about Counseling About Cancer: Strategies for Genetic Counseling here.

Information for Mental Health Providers

View information for mental health providers caring for patients facing unique challenges related to having a hereditary cancer predisposition syndrome.

View handout (pdf)

Mind Body Program for Individuals at High Risk for Cancer

New sessions begin periodically. 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.

Learn more

Updated cancer screening recommendation for breast and ovarian cancer genes

In September 2022, the National Comprehensive Cancer Network (NCCN) updated the cancer screening recommendations for patients with a pathogenic variant (also known as a mutation) in certain breast and ovarian cancer susceptibility genes. Learn more.

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:

 

Contact the Mass General Cancer Center

Contact us to make an appointment or to learn more about our programs.