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Acknowledging Genetic Risk in Breast Cancer Diagnoses

While cancer affects people of various ages, races, ethnicities and sexes, it does not affect them equally. Differences in genetics, hormones, environmental exposures (social determinants of health), and many other factors can lead to differences in risk and death rates among various populations. The most common risks for breast cancer are being a woman and getting older. However, there are other factors that, depending on your race or ethnicity, could also put some women at greater risk than others.

Breast Cancer Statistics for the U.S.

According to the CDC, 264,121 new breast cancer cases were diagnosed in the U.S. in 2019. The majority of these cases were diagnosed in white women. However, 31,302 black women, 24, 857 Hispanic women, 12, 486 Asian and Pacific Islander women and 1,580 American Indian and Alaska Native women were also diagnosed.

42,280 women diagnosed with breast cancer in the U.S. in 2019 died from this cancer. Again, the majority of these women were white, but 6,677 (21%) black women, 3,300 (13%) Hispanic women, 1,140 (11%) Asian and Pacific Islander women and 241 (15%) American Indian and Alaska Native women also died from this cancer.

Breast Cancer Statistics for Arkansas

According to the American Cancer Society, in 2018, 65% of Arkansas women aged 45 and older were up to date on their mammography. This was just three percent lower than the national average of 68%. Arkansas’ percentage has undoubtedly gone down in recent years due to clinics closing and staff shortages as a result of the pandemic. In 2022, there have been an estimated 2,440 new breast cancer cases in Arkansas (the estimate only includes women). Of those 2,440, 390 Arkansas women died from breast cancer.

Breast Cancer among Minority Groups in Arkansas

According to the CDC, 336 new breast cancer cases were diagnosed among black women. Of those 336 black women, 64 (around 20%) died from breast cancer. There were 57 new breast cancer cases diagnosed among Hispanic women, 34 new breast cancer cases diagnosed among Asian and Pacific Islander women and 23 new breast cancer cases diagnosed among American Indian and Alaska Native women. The CDC did not provide the death rates for these populations.

BRCA1 and BRCA2 Gene Mutations

According to cancer.gov, BRCA1 (BReast CAncer gene 1) and BRCA2 (BReast CAncer gene 2) are genes that produce proteins that help repair damaged DNA. Everyone has two copies of these genes that they inherit from each parent. BRCA1 and BRCA2 genes are often called tumor suppressor genes because cancer can develop when they have certain changes or mutations. Women who inherit harmful mutations of these genes are at increased risk of breast and ovarian cancer and several other types of cancer. People who have inherited BRCA1 and BRCA2 gene mutations are also more likely to develop cancer at a younger age than those who do not have the variants.

Harmful mutations of these genes can come from either parent. Each child of a parent who carries this gene mutation has a one in two chance (50%) of inheriting the gene mutation. When a gene mutation is inherited from one parent, that person also has a normal copy of the gene from the other parent. However, in some cases, this normal copy can change over time, causing the body to develop cells with no functioning BRCA1 and BRCA2 proteins. Cells without these proteins can multiply rapidly and become cancerous.

BRCA1 and BRCA2 and Cancer Risk

A woman’s risk of developing breast or ovarian cancer is notably increased if she inherits a harmful mutation in BRCA1 or BRCA2. The degree of increase can vary depending on the mutation. To put it in perspective, about 13% of women in the general population will develop breast cancer at some point in their lives. This percentage increases dramatically for women who have BRCA1 and BRCA2 variants. 55%–72% of women who inherit a BRCA1 variant and 45%–69% of women who inherit a BRCA2 variant will develop breast cancer by 70–80 years of age. Women with these variant genes also have an increased risk of developing cancer in both breasts instead of just one.

The prevalence of inherited BRCA1 and BRCA2 mutations varies across specific population groups. Across the general population, the prevalence is only around 0.2%–0.3% (about 1 in 400). However, about 2% of people of Ashkenazi Jewish descent carry a harmful variant in one of these two genes. Other populations, such as Norwegian, Dutch and Icelandic, also have these mutations. Different racial, ethnic and geographical populations also carry different BRCA1 and BRCA2 variants. African Americans have BRCA1 variants not seen in other racial/ethnic groups in the United States. Most people of Ashkenazi Jewish descent in the U.S. who carry a BRCA gene variant have one of three specific variants (two BRCA1 variants and one BRCA2 variant). In the Icelandic population, those who inherit a BRCA1 variant have a completely different mutation than other populations.

Genetic Counseling and Testing for BRCA1 and BRCA2 Variants

Anyone concerned that they may have a BRCA1 or BRCA2 variant should talk to a health care provider or a genetic counselor. While testing is not recommended for the general public, women who fall into a population with a higher risk of BRCA1 or BRCA2 variants should be tested. Genetic counselors can answer questions about insurance coverage. Coverage may vary depending on the type of insurance. Some genetic testing companies may also offer inherited BRCA1 and BRCA2 variants at no charge for patients who lack insurance and meet special criteria.

A positive genetic test result reveals that a person has inherited a harmful variant in BRCA1 or BRCA2. A positive test cannot tell an individual whether they will develop cancer. In fact, some patients who inherit BRCA1 and BRCA2 variants never develop cancer. However, a positive test result has important implications for future generations of family members:

  • Regardless of whether or not they develop cancer, both men and women who inherit a harmful variant may pass the variant to their children. Remember that each parent with a mutation has a 50% chance of passing the gene on to their child.
  • All blood relatives of a person who has inherited a harmful variant are at some increased risk of having the variant themselves. Each sibling has a 50% chance of also having inherited the gene.

Regardless of age, race, ethnicity or family history, it is essential that women know the signs of breast cancer and whether they have BRCA1 and BRCA2 gene mutations, especially if they fall into the most vulnerable population groups. All the information on BRCA1 and BRCA2 gene mutations was found on cancer.gov. Visit their website for more details regarding BRCA1 and BRCA2 gene variants and what to do when you test positive.

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