Enhanced Surveillance for Breast Cancer in Patients at High Risk

👉Women with genetic predisposition to breast cancer tend to develop the disease at a younger age, when breast tissue is dense and the sensitivity of mammography is low.

👉The sensitivity of MRI ranges from 77% to 100% in high-risk women (compared with 12.5% to 40.0% for mammography) and the specificity from 81.0% to 98.9% (compared with 93% to 100% for mammography).

👉The false positive rate is higher for magnetic resonance imaging (MRI) than mammography but not excessively so.

👉Screening MRI increases the diagnosis of smaller, lymph node–negative breast cancers but has not yet been shown to improve survival.

👉Per NCCN guidelines, women with a genetic predisposition to breast cancer should be familiar with their breasts and report any changes to their health care provider.

👉This breast awareness can include periodic, consistent breast self-examination and should begin at age 18.

👉Clinical breast examinations by a health care provider should be done every 6 to 12 months starting at age 20 to 25 years or 5 to 10 years before the earliest known breast cancer in the family (whichever comes first).

👉Enhanced surveillance includes breast imaging starting between ages 20 and 29 years in Li-Fraumeni syndrome, between 25 and 29 years in hereditary breast and ovarian cancer syndrome, and between 30 and 35 years in Cowden syndrome, or 5 to 10 years before the earliest known breast cancer in the family (whichever comes first).

👉Mammography and breast MRI are usually obtained yearly at 6-month intervals.

👉Annual mammography is generally not recommended before age 30 because of evidence that exposure to diagnostic radiation before age 30 is associated with an increased breast cancer risk.

👉The American Cancer Society supports screening MRI for anyone with lifetime breast cancer risk greater than 20%.

👉This would include most anyone with a pathogenic mutation in any of the established breast cancer predisposition genes included in the modern genetic testing panels.

👉The NCCN guidelines have specifically endorsed enhanced surveillance with MRI for BRCA1, BRCA2, ATM, CDH1,CHEK2, NBN, NF1, PALB2, PTEN, STK11, and TP53.

👉There are no established guidelines for ovarian cancer screening.

👉Transvaginal sonography and cancer antigen 125 measurements can be performed every 6 months at the physician’s discretion, but this approach will not diagnose ovarian cancer at an earlier, more treatable stage and will not improve survival.

👉It is not a substitute for bilateral salpingo-oophorectomy.

👉Men with a BRCA1 or BRCA2 mutation should practice breast self-examination starting at age 35.

👉Routine screening mammography is not recommended.

👉Prostate cancer screening with digital rectal examination and prostate-specific antigen measurements is recommended for BRCA2 mutation carriers beginning at age 40.

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