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BRCA Genes: What Is Your Risk as a Carrier of 'the Breast Cancer Gene?'

What is 'the breast cancer gene' BRCA?

BRCA 1 and 2 are normally occurring genes in humans. Several genetic mutations (alterations in the body's genetic material) have been identified which are associated with the development of breast and ovarian cancer. Changes in BRCA1 and BRCA2, can be inherited and lead to a markedly increased risk for developing breast cancer and ovarian cancer.

Who carries the BRCA gene mutation?

Patient Comments

Only about 5% of women with breast cancer are found to carry a mutated BRCA gene. Studies have confirmed that women who carry these BRCA mutations have a high risk for development of breast cancer, about five times that of women who do not have BRCA gene alterations. Overall, around 12% of all women will get breast cancer during their lifetime; in contrast, around 55%-65% of women with a BRCA1 mutation and 45 % with a BRCA2 mutation will get the disease. Having a BRCA mutation also predisposes a woman to developing breast cancer at an early age (before menopause). The incidence of BRCA mutation is higher in some ethnic groups, such as people of Ashkenazi (European) Jewish origin and in some populations in Iceland, the Netherlands, and Norway.

BRCA gene testing

Testing for alterations in a person's BRCA1 or BRCA2 gene is done via a blood sample. If you have a family history of breast and/or ovarian cancer, your doctor can help you decide whether BRCA testing might be appropriate for you. Women who do test positive for BRCA mutations have multiple options to decrease the likelihood of developing cancer. These options include more frequent cancer screenings, avoidance of other known risk factors, prophylactic surgery (removal of breasts or ovaries), and preventive drug therapy.

What other risks to BRCA mutation carriers face?

BRCA mutations also increase the risk of ovarian cancer. About 1.7% of women in the general population get ovarian cancer as compared with 40% of women with BRCA1 and 11% to 17% of women with a BRCA 2 mutations. Both male and female carriers of these mutant genes have a slightly increased risk for the development of other kinds of cancer, including stomach cancer, gallbladder and bile duct cancer, cervical cancer, uterine cancer, colon cancer, prostate cancer, melanoma, and pancreatic cancer.

Medically reviewed by Jay B. Zatzkin, MD; American Board of Internal Medicine with subspecialty in Medical Oncology

REFERENCE:

National Cancer Institute. BRCA1 and BRCA2: Cancer Risk and Genetic Testing.


Medically Reviewed by a Doctor on 9/11/2017

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The eMedicineHealth doctors ask about BRCA Genes: What Is Your Risk as a Carrier of 'the Breast Cancer Gene?':

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Were you found to be carrying the BRCA gene? What steps did you take?

Breast cancer awareness

Breast Cancer Facts and Awareness

Breast cancer is cancer arising in breast tissue. Cancers are diseases that start as abnormalities developed in cells, leading to abnormal growth patterns. Cancers can grow in place in their tissue of origin or spread (metastasize) to other parts of the body.

  • Although breast cancer is primarily a disease of women, about 1% of breast cancers occur in men.
  • Breast cancer is the most common type of cancer in women with the exception of nonmelanoma skin cancers. It is the second leading cause of death by cancer in women, following only lung cancer.
  • A woman has a lifetime risk of developing invasive breast cancer of about one in eight, or about 12% over the course of their entire lifetime. That risk is lower when they are younger and increases with age.
  • Death rates from breast cancer have been gradually declining and continue to decline. These decreases are likely due both to increased breast cancer awareness and screening and improved treatment methods.
  • There are currently about 2.8 million breast cancer survivors in the U.S.
  • In 2016, the American Cancer Society estimated that 246,660 new cases of invasive breast cancer would be diagnosed among women in the United States and that a further 61,000 new cases of in-situ (noninvasive) breast cancer would be diagnosed.


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