Learn About The Gene Mutations That Increase Your Risk Of Breast And Ovarian Cancer
Lawmakers in Nevada are considering a bipartisan bill, Senate Bill 251, which would require primary care clinicians to inform their female patients about the option to screen for harmful genetic mutations that increase the risk for cancer. The bill would put federal recommendations regarding access to genetic screenings into state law.
Breast cancer 1 (BRCA1) and breast cancer 2 (BRCA2) gene mutations are the most common causes of hereditary breast cancer. Despite their names, BRCA1 and BRCA2 do not automatically cause breast cancer. Their role is to protect the body from certain cancers, but a mutation can prevent the genes from working correctly. If a mother or father has either mutation, they have a 50% chance of passing it to their child. Both women and men can inherit a harmful variant.
In the U.S., roughly 1 in 500 women has either a BRCA1 or BRCA2 gene mutation, according to the Centers for Disease Control and Prevention (CDC). If women inherit a mutation, they have an elevated risk of developing several types of cancers, most notably breast and ovarian cancer, at a younger age than those without a mutation.
People can have a higher risk for inheriting a BRCA mutation if they have a family history of cancer, according to the CDC. Increased risk factors include several family members with breast cancer, a relative who developed breast cancer before the age of 50, and a male relative with breast cancer. Other risk factors include any relatives with ovarian cancer and if a family member has a known BRCA gene mutation.
Other risk factors include a personal history of breast and ovarian cancer, specifically, if you’ve developed breast cancer before the age of 50, if you’ve had breast cancer more than once, if you’re a male and have had breast cancer, or if you’ve had ovarian, fallopian tube or primary peritoneal cancer at any age. Another specific indicator one might be at high risk is if a person has had breast cancer and another family member has as well.
Ashkenazi Jewish women have an even higher risk of having a harmful mutation than the average population. One in 40 Ashkenazi Jewish women has a BRCA mutation, according to the CDC. They’re 10 times more likely to have a BRCA mutation compared to the general population.
For women who inherit a harmful BRCA1 mutation, 55% to 72% will develop breast cancer and 39% to 44% of women with the variant will develop ovarian cancer by 70 to 80 years old. If women inherit a BRCA2 variant, 45% to 69% will develop breast cancer and 11% to 17% will develop ovarian cancer by 70 to 80 years of age, according to the National Cancer Institute. Women who inherit a BRCA1 or BRCA2 gene mutation also have an increased risk of fallopian tube cancer and primary peritoneal cancer.
Men who inherit a BRCA mutation also have an increased likelihood of developing several types of cancer, including breast and prostate cancer. If a man inherits a BRCA2 mutation, he has about an 8% risk of developing breast cancer by the age of 80, and he is seven times more likely to develop prostate cancer compared to men without BRCA mutations, according to BreastCancer.org. Men and women with a BRCA1 or BRCA2 variant are also at risk for pancreatic cancer, according to the CDC.
If a person tests positive for a BRCA1 or BRCA2 gene mutation, they have several options to reduce their risk of cancer. This can include enhanced breast cancer screenings at a younger age performed more frequently than what is recommended for the average person. Women can also opt for surgery to remove both breasts to reduce the risk of breast cancer or surgery to remove one’s ovaries and fallopian tubes to reduce the risk of ovarian cancer, but health officials say each option has benefits and drawbacks, so every person should consult with medical experts to determine the best choice for their individual needs.
Early detection can be critical because some people do not learn that they have BRCA1 or BRCA2 mutations until they are already diagnosed with cancer. The U.S. Preventive Services Task Force, a medical group of experts that issues the federal clinical guidelines on standards of care, essentially requires providers to ensure women have access to counseling and screening for BRCA1 or BRCA2 gene mutations. Current guidelines require primary care clinicians to assess women to determine if they are high risk, and if they are, ensure they have access to genetic testing. The guidelines are not without controversy. Some health experts say the prerequisites used to assess if someone is high risk are too limited and might overlook some patients. Another argument is that routine risk assessments may lead to unnecessary care for others.
In Nevada, where lawmakers have proposed Senate Bill 251, they say the bill would mirror federal recommendations and give Nevadans an extra layer of protection if there are changes at the federal level.
Republican State Senator Heidi Gansert co-sponsored the bill.
“Given the negative outcomes if you are diagnosed with BRCA1 and 2, and the importance of getting diagnosed earlier, we just thought we really wanted to put it in state law,” Gansert said.
Dr. Nathan Slotnick is a medical geneticist based in Reno, and he testified in support of the bill.
“It’s empowering — not only do you find out what your risks really are, but it allows you to initiate a program of surveillance and be proactive about your health,” Slotnick said.
The bipartisan bill passed out of the Nevada Senate unanimously in mid-April and requires the Assembly to pass it as well before it goes to the governor’s desk to get signed into law. The 2021 Nevada legislative session will adjourn on June 1.
Read more reporting on Senate Bill 251 by Lucia Starbuck here.
This story was produced in partnership with The Hitchcock Project for Visualizing Science.