High-risk women–What breast screening is appropriate?

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Answer

B. For a 28-year-old woman, herself untested, with a known pathogenic BRCA1 or BRCA2 mutation in a first-degree relative (mother/ father, sister/brother, daughter/son), screening annual magnetic resonance imaging (MRI) alone is recommended until age 30, followed by screening annual MRI and mammography/tomosynthesis at age 30 and beyond. If MRI is not an option, ultrasonography or contrast-enhanced mammography should be considered.

Most medical societies in the United States recommend mammography screening beginning at age 40 if a woman is at average risk. If a woman is determined to be at high risk, breast cancer screening may be recommended to begin by age 30. Breast cancer risk assessment, with a risk model based largely on family history, should begin by age 30 for all women.

The American College of Radiology (ACR),¹ National Comprehensive Cancer Network (NCCN),^2,3 and American Society of Breast Surgeons recommend annual MRI screening for the following high-risk subgroups of women:

• Women with known disease-causing BRCA1 or BRCA2 mutations, or other disease-causing mutations, or their untested first-degree relatives. (Age to begin screening MRI and screening mammography/tomosynthesis varies by mutation).^1,3 Women with known pathogenic BRCA1 or BRCA2 mutations, or their untested first-degree relatives, should begin annual screening with MRI only between ages 25-29, adding annual digital mammography/tomosynthesis at age 30 and beyond (unless the woman has had bilateral mastectomy). Note: There is emerging evidence that the benefit of mammography is relatively small in pathogenic BRCA1 carriers prior to the age of 40; therefore, the ACR suggests BRCA1 mutation carriers may consider delaying mammography until age 40 only if they receive contrast-enhanced MRI annually starting at age 25.¹ Annual mammography is of benefit beginning at age 30 in those with BRCA2 or other disease-causing mutations.
  Age to begin annual MRI screening and mammography/tomosynthesis in women who are known to carry or are first-degree untested relatives of individuals with less common disease-causing mutations (such as those associated with Li-Fraumeni syndrome [TP53]; Bannayan-Riley-Ruvalcaba syndrome or Cowden syndrome [PTEN]; hereditary diffuse gastric cancer [CDH1]; Peutz-Jeghers syndrome [STK11]; neurofibromatosis type 1 [NF1]; PALB2; ATM; CHEK2; or BARD1) ranges from 20-40 years depending on the mutation and family history.³ (See https://densebreast-info.org/providers-faqs /what-is-the-screening-management-for -various-other-mutation-carriers/.)

• Women who received chest/mantle radiation therapy by age 30 (such as for Hodgkin disease) and at least 8 years prior. Women with prior chest radiation therapy (such as for Hodgkin disease) between ages 10 and 30 are at high risk for developing breast cancer,^1,2,4,5 with risk similar in magnitude to BRCA1 or BRCA2 carriers, and are recommended for annual screening MRI starting at age 25 or 8 years after the chest radiation therapy, whichever is later.
• Women with a calculated lifetime risk of breast cancer of ≥20% are recommended to begin annual screening MRI by age 25-30.^1,2,5 Any of the models that include detailed family history such as the Tyrer-Cuzick (IBIS, which now includes breast density as a risk factor); BRCAPRO; BOADICEA; Claus; or Penn II; but not the Gail or Breast Cancer Surveillance Consortium (BCSC) models, can be used to estimate lifetime risk for the purposes of screening MRI guidelines. (See https://densebreast -info.org/for-providers/risk-model-tutorial/ for a summary table with live links.)
• Women with a personal history of breast cancer and dense breasts or diagnosis by age 50, regardless of breast density. A personal history of breast cancer is not included in risk models, but all women diagnosed with breast cancer at or before age 50 and treated with breast-conserving therapy have a ≥20% lifetime risk for a new breast cancer.^1,2 Annual MRI may be considered in addition to annual mammography or tomosynthesis in women with a personal history of breast cancer diagnosed after age 50 and without dense breasts, and/or a history of lobular carcinoma in situ (LCIS) or prior atypia (eg, atypical ductal hyperplasia (ADH), atypical lobular hyperplasia (ALH), or atypical papilloma).^1,2

Supplemental MRI screening should continue until age 75, after which management should be considered on an individual basis. If MRI screening is not an option, ultrasound or contrast-enhanced mammography (where available) should be considered as an alternative.^6-8 ●