Genetic Testing for Cancer

Helping to determine your personal cancer risk

Effective Tests for Hereditary Cancer Risk

If you have personal or family risk factors for certain types of cancer, your healthcare providers may recommend you have genetic testing for cancer risk.

Genetic testing for cancer risk helps identify inherited mutations in your genes that could increase your risk for developing certain types of cancer. Learning about your genetic predisposition to cancer may allow for better prevention, earlier detection and more personalized treatment options.

Risk Factors

About 1 in 2 men and 1 in 3 women will develop some type of cancer during their lifetime. This risk, however, is a population average. The interaction of many factors determines an individual’s risk.

These factors include age, family or personal history of cancer, hormonal factors and possibly external factors such as diet and environmental exposures. Typically, cancer is the result of an accumulation of acquired genetic alterations over our lifetime.

Most of the time, cancer happens by chance or because of environmental influences. Sometimes, cancer can be hereditary. This means that an increased risk of developing cancer is passed down in a family. About 5-15% of cancer is caused by an inherited risk. There are many genes associated with inherited cancer risk.

Genetic testing at Beth Israel Deaconess Medical Center (BIDMC) can help you be informed about your cancer risk. 

These are some of the features seen in families with inherited cancers:

  • Cancer in multiple generations of a family
  • Bilateral (occurring on both sides of the body) or one person having multiple primary cancers (cancers that begin in one more than one area of the body)
  • Certain ethnic backgrounds, such as Ashkenazi Jewish
  • Multiple family members affected with the same cancer or related cancers (e.g., breast and ovarian cancer or colon and uterine cancer)
  • Early onset cancer (before age 50)
  • Multiple polyps in the colon (or gastrointestinal tract)
  • The presence of less common cancers (such as pancreatic cancer or male breast cancer) 

Testing for Hereditary Cancer Syndromes

Our experts provide genetic counseling and testing for many different hereditary cancer syndromes, including these and others:

  • Hereditary Breast and Ovarian Cancer Syndrome (HBOC): increased risk for breast cancer, ovarian cancer, prostate cancer and other types of cancer
  • Lynch Syndrome, or Hereditary Non-Polyposis Colorectal Cancer (HNPCC): increased risk for colon cancer, uterine cancer and other types of cancer
  • MUTYH: increased risk for colon polyps and cancer
  • Familial Adenomatous Polyposis (FAP): increased risk for colon polyps and cancer
  • Hereditary Diffuse Gastric Cancer Syndrome: increased risk for lobular breast cancer and gastric cancer
  • Li Fraumeni Syndrome: increased risk for many types of pediatric and adult cancers, including breast cancer, sarcoma, brain cancer, adrenocortical carcinoma, skin cancer, gastrointestinal cancers (including the colon, stomach, and pancreas), prostate cancer and other types of cancer
  • Cowden Syndrome: increased risk for breast cancer, thyroid cancer and other types of cancer

Cancer Genetic Testing & Counseling

Cancer genetic testing can help determine your personal risk for various types of cancer. If you currently have cancer, genetic testing may explain why you developed cancer or help your doctors decide which treatments might work best for you.

Genetic testing may also help family members learn more about their chance of getting cancer. Genetic testing typically involves a standard blood draw or saliva collection. Test results are generally available within 2-4 weeks. Your primary care provider and other health care providers can help determine if you may benefit from cancer screening and genetic testing. 

Be informed and get details on what to expect when you come to BIDMC for your genetic counseling and testing.

Cancer Genetics Research

At BIDMC, we are committed to our cancer genetics research programs and are working tirelessly to discover new ways to treat and prevent hereditary syndromes. We are dedicated to advancing the understanding of how genetics influences cancer risk, development and treatment. By participating in cancer genetics research, patients have the unique opportunity to contribute to groundbreaking discoveries. Learn more about our cancer clinical trials.

More About Genetic Testing for Cancer Risk

Breast & Ovarian Cancer

If you have certain risk factors, you may want to consider genetic testing for your risk of breast and ovarian cancer. These are the specific genes associated with an increased risk for breast cancer and/or ovarian cancer:

  • ATM
  • BRIP1
  • CHEK2
  • EPCAM
  • RAD51C
  • RAD51D
  • BRCA1
  • BRCA2
  • MLH1
  • MSH2
  • MSH6
  • PALB2
  • PMS2
  • PTEN
  • TP53

At BIDMC, our cancer specialists work with the Cancer Genetics and Prevention Program to make individual care management plans for those with an elevated risk of developing cancer.

Colon Cancer

If you have certain risk factors, you may want to consider genetic testing for your risk of colon cancer. These specific genes or syndromes are associated with an increased risk for colon cancer:

  • Lynch syndrome, which includes MLH1, MSH2, MSH6, PMS2 and EPCAM
  • Familial Adenomatous Polyposis (FAP)
  • MUTYH
  • POLE
  • POLD1
  • PTEN
  • STK11
Pancreatic Cancer

If you have certain risk factors, you may want to consider genetic testing for your risk of pancreatic cancer. These specific genes or syndromes are associated with an increased risk for pancreatic cancer:

  • ATM
  • BRCA1 and BRCA2
  • Familial Adenomatous Polyposis (FAP)
  • Cyclin dependent kinase inhibitor 2A (CDKN2A)
  • Lynch syndrome, which includes MLH1, MSH2, MSH6, PMS2 and EPCAM
  • PALB2
  • STK11

At BIDMC, our cancer specialists work with the Cancer Genetics and Prevention Program to make individual care management plans for those with an elevated risk of developing cancer.

In some families without a known gene mutation, pancreatic cancer screening may still be offered based on family history of pancreatic cancer.

Meet the Team

Our genetics team is committed to providing you with the best available care in a highly personalized manner. You can expect to work with a genetics counselor, who will analyze and explain your cancer risk.

Physicians

Emily S. Gatof, MD
Emily S. Gatof, MD Internal Medicine-Medical Oncology
Katharine A. Germansky, MD
Katharine A. Germansky, MD Internal Medicine-Gastroenterology
Mandeep S. Sawhney, MD
Mandeep S. Sawhney, MD Internal Medicine-Gastroenterology
Nadine Muskatel Tung, MD
Nadine Muskatel Tung, MD Internal Medicine-Medical Oncology

Licensed Genetic Counselors

Kim DeLeonardis, MS, CGC
Lindsey Grenon, MS, CGC
Lauren Hogan, MS, CGC
Jill Krejdovsky, MS, CGC
Stacey Liberman, MS, CGC
Quinn Murphy, MS, CGC