Cancer Genetics Mutations BRCA
Breast
Inherited genetic mutations that increase the risk of breast cancer
About 5% to 10% of breast cancer cases are thought to be hereditary, meaning that they result directly from gene changes (mutations) passed on from a parent. The most common cause of hereditary breast cancer is an inherited mutation in the BRCA1 or BRCA2 gene. In normal cells, these genes help make proteins that repair damaged DNA. Mutated versions of these genes can lead to abnormal cell growth, which can lead to cancer.
On average, a woman with a BRCA1 or BRCA2 gene mutation has up to a 7 in 10 chance of getting breast cancer by age 80. Women with one of these mutations are more likely to be diagnosed with breast cancer at a younger age, as well as to have cancer in both breasts. Women with one of these gene changes also have a higher risk of developing ovarian cancer and some other cancers. Men who inherit one of these gene changes also have a higher risk of breast and some other cancers.
In the United States, BRCA mutations are more common in Jewish people of Ashkenazi (Eastern Europe) origin than in other racial and ethnic groups, but anyone can have them. Other gene mutations can also lead to inherited breast cancers. These gene mutations are much less common, and most of them do not increase the risk of breast cancer as much as the BRCA genes.
- ATM
- PALB2
- TP53
- CHEK2
- PTEN
- CDH1
- STK11
Source: “Inheriting certain gene changes” (American Cancer Society)
Certain gene mutations increase the risk of Triple-Negative Breast Cancer (TNBC)
Mutations in the following genes have been linked to increased risk for breast cancer in women:
- ATM
- BARD1 (especially triple-negative breast cancer)
- BRCA1 (frequently linked to triple-negative breast cancer)
- BRCA2
- CDH1 (frequently linked to lobular breast cancer)
- CHEK2
- NF1 (only in people with neurofibromatosis)
- PALB2
- PTEN
- RAD51C (especially triple-negative breast cancer)
- RAD51D (especially triple-negative breast cancer)
- STK11
- TP53
Mutations in the following genes may also be linked to increased breast cancer risk, but more research is needed to confirm this.
- BRIP1 (especially triple-negative breast cancer)
- NBN (only in people with a 657del5 mutation)
Mutations in the following genes have been linked to breast cancer risk in men:
- BRCA1
- BRCA2
- CHEK2
- PALB2
Source: “Genes with inherited mutations linked to breast cancer” (FORCE: Facing Hereditary Cancer Empowered)
BRCA1 and BRCA2 genes
About 5% to 10% of breast cancer cases are thought to be hereditary, meaning that they result directly from gene changes (mutations) passed on from a parent. The most common cause of hereditary breast cancer is an inherited mutation in the BRCA1 or BRCA2 gene. In normal cells, these genes help make proteins that repair damaged DNA. Mutated versions of these genes can lead to abnormal cell growth, which can lead to cancer.
If you have inherited a mutated copy of either gene from a parent, you have a higher risk of breast cancer. On average, a woman with a BRCA1 or BRCA2 gene mutation has up to a 7 in 10 chance of getting breast cancer by age 80. This risk is also affected by how many other family members have had breast cancer. It goes up if more family members are affected.
Women with one of these mutations are more likely to be diagnosed with breast cancer at a younger age, as well as to have cancer in both breasts. Women with one of these gene changes also have a higher risk of developing ovarian cancer and some other cancers. Men who inherit one of these gene changes also have a higher risk of breast, prostate and some other cancers.
In the United States, BRCA mutations are more common in Jewish people of Ashkenazi (Eastern Europe) origin than in other racial and ethnic groups, but anyone can have them.
See: “Breast Cancer Risk Factors You Cannot Change” on the American Cancer Society website
BRCA Genes and Breast Cancer
Without treatment, a woman who is BRCA1 or BRCA2 mutation carrier is seven times more likely to develop breast cancer and 30 more times likely to develop ovarian cancer before the age of 70.
A 3-minute video from the CDC.
Understanding BRCA Mutations and Risk
Everyone has the BRCA genes. Their job is to repair errors that occur in your cell’s DNA. If one or both genes you inherited have a mutation, they might let some errors through.
A 4-minute video from the Dr. Susan Love Foundation.
Dispelling myths of BRCA gene mutations
BRCA mutations have been linked to breast, ovarian, pancreatic and prostate cancers, all of which aside from ovarian cancer, can affect men.
A 4-minute video from AstraZeneca.
Black & BRCA is a collaboration between the Basser Center for BRCA and its team of patient advocates, researchers and healthcare professionals to bring tailored resources and support to the Black community. The Basser Center is part of the University of Pennsylvania Health System, a major multi-hospital health system headquartered in Philadelphia, Pennsylvania.
“At a time when Black men and women are more likely than the general population to be diagnosed with cancer at later stages when it is less treatable, Black & BRCA seeks to empower individuals to understand their family health history and take action to prevent cancer from one generation to the next.”
Educational Resources
My Experience as a BRCA Mutation Carrier
Erika Stallings is a lawyer, writer, and patient advocate based in New York City. In 2014, she learned that she carried a BRCA2 mutation like her mother.
Despite my risk, I avoided getting tested right away. I was busy living life. Before I knew it, I was 28 years old, about the same age that my mom was first diagnosed.
I knew I needed to get tested. Looking back, I’m a little embarrassed that I pushed it off. But when you’re young, you feel healthy. You don’t expect these huge hurdles to come up, even if you know you’re at risk.
I tried to make an appointment for genetic testing at Memorial Sloan Kettering, but was waitlisted due to a shortage of genetic counselors in the United States. In June 2014, I got an appointment at New York University. I did some volunteer work for a breast cancer organization in New York City, and the executive director helped me get an appointment. If it weren’t for them, I would’ve had to wait another six months.
In July, I got the results. I had inherited the BRCA2 mutation. I knew it.” She underwent a preventative mastectomy later that year.
Source: “My Experience As a BRCA Mutation Carrier”(August 25, 2021)
BRCA1 and BRCA2 in Men
Men can also carry BRCA1 or BRCA2 gene mutations and be at increased risk for breast, prostate and other cancers, too.
While cancer risks in male BRCA mutation carriers are not as dramatically elevated as those of female BRCA mutation carriers, cancer risk management and early detection are crucial.
See “BRCA1 and BRCA2 in Men” on the Basser Center for BRCA website
Beyonce's father is a BRCA carrier
Everyone has BRCA1 and BRCA2 genes and men can carry BRCA1 or BRCA2 gene mutations and be at increased risk for breast, prostate and other cancers, too.
While cancer risks in male BRCA mutation carriers are not as dramatically elevated as those of female BRCA mutation carriers, cancer risk management and early detection are crucial.
See “BRCA1 and BRCA2 in Men” on the Basser Center for BRCA website
Cervical
Colorectal
Endometrial
Women born with mutations in the genes linked to endometrial cancer not only have a high lifetime risk, but they’re also more likely to develop the cancer at a young age. The genes linked to endometrial cancer risk include:
Source: “Endometrial Cancer” on the FORCE (Facing our risk of cancer EMPOWERED) website
Find more about these genes, their risks, and guidelines for screening, preventing and treating cancers in people with inherited mutations in these genes:
Genes linked to Endometrial Cancer Risk
