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  • –Women age <60 y.


NCCN 2016

  • Who to screen: patients without cancer.

    • Individual from a family with known deleterious BRCA1 and 2 gene mutation.

    • Test only for the known mutation, not a full genetic evaluation.

    • If strong family history (FH) but unable to test family member with cancer (not alive or unavailable to be tested) then do full genetic evaluation. A strong FH includes

      • Two primary breast cancers in a single close relative (1st, 2nd, and 3rd degree relatives)

      • Two breast cancer primaries on same side of family with at least one diagnosis occurring in a patient <50 y

      • Ovarian cancer or male breast cancer at any age.

  • Who to screen: patients with breast, ovarian, pancreas, and prostate cancer.

    • A known mutation in a cancer susceptibility gene within a family.

    • Early age onset of breast CA (<50 y).

    • Triple negative (ER-PR-, Her2-) breast cancer diagnosed in <60-y-old.

    • An individual of Ashkenazi Jewish descent with breast, ovarian, or pancreatic cancer at any age.

    • All women with ovarian cancer (epithelial and non-mucinous) at any age should be tested for BRCA1 and 2 mutations.


  1. BRCA2 related breast cancer is more like sporadic BC with 75% of patients with hormonal receptor positivity and significant decrease in aggressive growth. Only 15% of BRCA2 patients will develop ovarian cancer with the average time of onset being in the mid-fifties.

  2. One in forty Ashkenazi Jewish men and women carry a deleterious BRCA1 or 2 gene (BRCA1 185del AG, 5382inse mutations, and BRCA2 6174delT mutation).

  3. Some experts believe all men and women of Ashkenazi descent should be tested for these 3 genes even with no personal or family history of malignancy. (N Engl J Med. 2016;374:454)



  • –Women age 20–44 y.


ACS 2016

  • –Inform women of benefits and limitations of breast self-examination (BSE). Teach women to report lumps or breast symptoms.

  • –Do not routinely perform breast imaging for average-risk women. Women age 40–44 y should have the opportunity to begin annual screening if they desire.



  • –Women age 40–49 y.


USPSTF 2012, AAFP 2013

  • –Perform individualized assessment of breast CA risk; base screening decision on benefits and harms of screening as well as on a woman’s preferences and CA risk profile. (Ann Intern Med. 2012;156:635, 662)


  • Ann Intern Med. 2012;156:609.

  • Ann Intern Med. 2014;160:864.

  • Am Fam Physician. 2013;87(4):274-278.

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