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BRCA 1 and BRCA 2

BRCA 1 and BRCA 2

The cancer types related to changes of the BRCA genes are predominantly breast, ovarian, and fallopian tube cancer, although other types are also associated. A woman's risk for breast cancer increases by age 70 if there are clinically significant mutations in either BRCA gene.

Who is at risk

  • Personal or family history of breast cancer
  • Ethnic groups – African-American, Ashkenazi Jewish, Asian-American, White, Hispanic

Symptoms

Breast cancer symptoms vary widely — from lumps to swelling to skin changes — and many breast cancers have no obvious symptoms at all.

Symptoms for ovarian/fallopian tube cancer may include:

  • Abdominal bloating
  • Pelvic or abdominal pain
  • Difficulty eating or feeling full quickly
  • Urinary symptoms, such as urgency or frequency
  • Fatigue
  • Upset stomach
  • Indigestion
  • Back pain
  • Pain with intercourse
  • Constipation
  • Menstrual irregularities
  • Swelling in the pelvis or abdomen
  • Vaginal discharge, which may be clear, white, or tinged with blood

What you can do

It’s important to have anything unusual checked by your doctor.

What Can I Do to Reduce My Risk of Ovarian Cancer?

Preventive service at no cost

Women who have Family Members with Breast, Ovarian, Tubal, or Peritoneal Cancer or an ancestry associated with BRCA1/2 gene mutation

The USPSTF recommends that primary care clinicians assess women with a personal or family history of breast, ovarian, tubal, or peritoneal cancer or who have an ancestry associated with breast cancer susceptibility 1 and 2 (BRCA1/2) gene mutations with an appropriate brief familial risk assessment tool. Women with a positive result on the risk assessment tool should receive genetic counseling and, if indicated after counseling, genetic testing.


Why screening is important

Interventions that may reduce risk for cancer or cancer-related death in women who are BRCA mutation carriers include earlier, more frequent, or intensive cancer screening; risk-reducing medications (for example, tamoxifen or raloxifene); and risk-reducing surgery (for example, mastectomy or salpingo-oophorectomy).

What the screening is

Genetic risk assessment and BRCA mutation testing is generally a multistep process involving identification of individuals who may be at increased risk for potentially harmful mutations, followed by genetic counseling from suitably trained healthcare providers and genetic testing of selected high-risk individuals when indicated. Several familial risk stratification tools are clinically useful for selecting patients who should be offered genetic counseling to further determine their candidacy for possible BRCA mutation testing.

Genetic counseling about BRCA mutation testing may be done by trained healthcare professionals, including trained primary care providers. Several professional organizations describe the skills and training necessary to provide comprehensive genetic counseling. The process of genetic counseling includes detailed kindred analysis and risk assessment for potentially harmful BRCA mutations; education about the possible results of testing and their implications; identification of affected family members who may be preferred candidates for testing; outlining options for screening, risk-reducing medications, or surgery for eligible patients; and follow-up counseling for interpretation of test results.

Treatment

In general, cancers related to BRCA1 and BRCA2 mutations are treated in the same way that cancers not related to BRCA1/2 mutations are treated.

Additional tips

  • Avoid things known to cause cancer, such as smoking.
  • Eat nutritiously.
  • Get plenty of exercise.

Resources