BRCA1 and BRCA2 Genes and Breast Cancer

Courtesy Roswell Park Cancer Talk Blog

BRCA1 and BRCA2 (pronounced BRACKA) are tumor suppressor genes found in the DNA of both men and women that, when functioning normally, keep tumors from forming. Although rare, some people have a mutated copy of the gene that is associated with an increased risk for breast, ovarian, prostate, pancreatic, melanoma, and colorectal cancer, with breast and ovarian cancers being the most common.

“BRCA gene mutations are generally inherited from one or more generations in a family,” explains Katherine Clayback, MS, CGC, Genetic Counselor with Roswell Park’s Clinical Genetics Service. However, Clayback says, “If one family member has a genetic mutation linked to the BRCA gene, it does not mean that all family members will have it.”

How Do BRCA Mutations Cause Cancer? Genes are the body’s sets of genetic instructions. “When BRCA genes are mutated, they don’t function properly, affecting cells’ ability to repair themselves, and increasing the risk for specific types of cancer,” says Clayback. BRCA 1 mutations are associated with an increased risk for breast cancer, including an aggressive form called triple negative breast cancer, ovarian, pancreatic, and prostate cancer. BRCA2 mutations are associated with an increased risk for breast, ovarian, pancreatic, and prostate cancer, as well as melanoma.

How Do I Know if I Have a BRCA Mutation? “The only way to know for sure is to undergo genetic testing,” says Clayback, who recommends genetic counseling and testing for people already diagnosed with certain types of cancer, including metastatic breast cancer, metastatic prostate cancer, ovarian, or pancreatic cancer, regardless of family history. She also recommends genetic counseling and testing for individuals diagnosed with any of these cancers at a young age, or who have family members diagnosed with these types of cancers.

Other Factors to Consider. Roswell Park recommends genetic counseling and testing for
individuals who have the following: a family history of breast, ovarian, or prostate cancer in multiple relatives on the same side of the family or any family member with pancreatic cancer; a personal or family history of breast cancer diagnosed before the age of 45 or premenopausal; a family member diagnosed with cancer in both breasts, with one breast cancer diagnosed before age 50; those of Ashkenazi Jewish (Eastern European) heritage with a family history of one of these cancers; a male relative diagnosed with breast cancer; and individuals aware of family members with a genetic mutation.

According to Clayback, testing has several purposes, explaining that, “For a person with cancer, the results can help doctors determine the best options for treating the cancer. For a person with a BRCA mutation, the testing may guide them regarding preventive steps to consider related to a future risk for cancer, such as surgery, additional screening, and family planning. Genetic testing also offers valuable health information that can be shared with other family members to increase their awareness of possible cancer risk.”

If you believe you are at high risk for a BRCA or another gene mutation, call 1-800-ROSWELL. You will be directed to Roswell Park’s genetic counseling and testing or appropriate services for screening, surveillance, and other options.