Breast cancer and genetic testing

Breast cancer is on a lot of women's minds after the reports of Angelina Jolie's decision to have a double mastectomy following genetic testing for breast cancer due to her family history.

Breast cancer is on a lot of women’s minds after the reports of Angelina Jolie’s decision to have a double mastectomy following genetic testing for breast cancer due to her family history. This high-profile celebrity news may have many women asking themselves if they should be doing more than their yearly mammogram to prevent breast cancer.

The answer, according to the National Cancer Institute (NCI), is that only 5 to 10 percent of breast cancers are caused by the BRCA1 or BRCA2 gene mutation. The NCI recommendation is that the likelihood of a harmful mutation in BRCA1 or BRCA2 is increased only with certain patterns of cancer that run in families.

I spoke with a genetic counselor at Norton Cancer Institute about the test and who should be concerned. The criteria the NCI, physicians and genetic counselor’s use to determine if testing is needed includes the following:

For women who are not of Ashkenazi Jewish descent:

  • Two first-degree relatives (mother, daughter or sister) diagnosed with breast cancer, one of whom was diagnosed at age 50 or younger
  • Three or more first-degree or second-degree (grandmother or aunt) relatives diagnosed with breast cancer regardless of their age at diagnosis
  • A combination of first- and second-degree relatives diagnosed with breast cancer and ovarian cancer (one cancer type per person)
  • A first-degree relative with cancer diagnosed in both breasts (bilateral breast cancer)
  • A combination of two or more first- or second-degree relatives diagnosed with ovarian cancer regardless of age at diagnosis
  • A first- or second-degree relative diagnosed with both breast and ovarian cancer regardless of age at diagnosis
  • Breast cancer diagnosed in a male relative.

For women of Ashkenazi Jewish descent:

  • Any first-degree relative diagnosed with breast or ovarian cancer
  • Two second-degree relatives on the same side of the family diagnosed with breast or ovarian cancer.

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