Breast Cancer 101

Genetic Factors

Genetic mutations in the BRCA1 and BRCA2 genes have been linked to increased risk for breast cancer.

What is a Breast Cancer Genetic Risk Factor?

The human body is composed of cells that contain genetic information inherited by children from their parents. This genetic information influences certain physical traits that people develop, such as eye color, as well as their susceptibility to certain health conditions or diseases, such as cancer.

A genetic mutation occurs when genetic information is inherited with an error. Some genetic mutations have no effect on a person’s health and some can even have a positive effect. Other genetic mutations can increase a person’s risk of developing certain diseases, including cancer.

Hereditary Breast Ovarian Cancer Syndrome

Between 5 and 10 percent of breast cancer cases are hereditary, or caused by an inherited genetic mutation. Hereditary breast ovarian cancer syndrome (HBOC) affects families with strong histories of breast cancer and/or ovarian cancer caused by genetic mutation.

Mutations in breast cancer genes 1 (BRCA1) or 2 (BRCA2) are the most common cause of HBOC. BRCA1 or BRCA2 mutations are linked to a significantly increased risk for developing breast cancer.

  • Mutations in the BRCA1 or BRCA2 gene can be inherited from your mother or father.
  • Between 1 in 400 and 1 in 800 people in the U.S. have a BRCA1 or BRCA2 mutation.

HBOC can be caused by genetic mutations besides those affecting BRCA1 and BRCA2, although they are much more rare. They include:

  • Ataxia Telangiectasia Mutated (ATM).
  • Tumor Protein p53 (TP53).
  • Checkpoint Kinase 2 (CHEK2).
  • Phosphatase and tensin homolog (PTEN).
  • Cadherin 1 (CDH1).
  • Serine/Threonine Kinase 11 (STK11).

Genetic Mutations and Risk for Breast Cancer

Approximately 12 percent of American women will develop breast cancer at some point in their lives. However, the lifetime risk of developing breast cancer can rise to 60 percent for women with a BRCA1 or BRCA2 gene mutation. National Comprehensive Cancer Network guidelines recommend genetic testing for certain women to determine if they carry a gene mutation increasing their risk for developing breast cancer. These include women with:

  • A family member diagnosed with breast cancer by the age of 45.
  • A family member diagnosed with ovarian cancer at any age.
  • Family history of breast and ovarian cancers on one side of their family.
  • Family history of male breast cancer.
  • Ashkenazi Jewish heritage and a family history of breast and ovarian cancers.
  • A personal diagnosis of breast cancer before the age of 45.
  • A personal or family history of bilateral breast cancer.

Learning about a genetic mutation that raises risk for breast cancer can be a frightening experience. However, women with these mutations can live healthy, breast cancer-free lives.

Women who have undergone genetic testing that reveals increased risk of breast cancer due to genetic mutation should consult with their physicians. It is important these breast cancer genetic testing results are interpreted by a multidisciplinary team of health care providers, who will consider other risk factors and family history before making medical recommendations.

Breast Cancer Risk Assessment at Breastlink

At Breastlink, we believe knowledge is power. We want to help you better understand your personal risk for developing breast cancer, so that you can make the best lifestyle choices and health care decisions to promote your breast health.

Our comprehensive risk assessment program is designed to provide you knowledge of your personal risk factors and is covered by most insurance plans. Visit our Risk Assessment Program.



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