Women with Pathogenic Variants for Breast Cancer May Benefit From Early Annual MRI
Comparative modeling analysis of women with pathogenic variants for breast cancer suggests that annual screening MRI starting age 30-35 years may decrease mortality by up to 60%.
Women with pathogenic variants in ATM, CHEK2, and PALB2 are at increased risk of breast cancer, however clinical trials examining breast cancer screening regimens have not been performed in these women. A study published in JAMA Oncology suggests that annual MRI screening starting at ages 30 to 35 followed by annual mammography and MRI starting at age 40 could reduce breast cancer mortality by >50% in these women, with reasonable trade-offs of benefits and harms.
This study was a comparative modeling analysis using two breast cancer simulation models from the Cancer Intervention and Surveillance Modeling Network (CISNET). The models were adapted to simulate cohorts of women with pathogenic variants in ATM, CHEK2, and PALB2 using data from the Cancer Risk Estimates Related to Susceptibility (CARRIERS) consortium. Screening performance was estimated based on data from the published literature and data provided by the Breast Cancer Surveillance Consortium. The authors compared different approaches to breast cancer screening using mammography alone or mammography with MRI at various start ages.
Based on the model results, starting MRI screening at age 30 or 35 reduced breast cancer mortality by approximately 54-60% versus a 36-39% breast cancer mortality reduction with annual mammography alone starting at age 40. Earlier mammography in combination with MRI did not meaningfully impact mortality. For example, in women receiving annual MRI starting at age 30, annual mammography starting at age 30 versus 40 reduced breast cancer mortality by 0.1-0.3% but added 649-650 false-positive screens per 1000 women.
Lowry KP, Geuzinge HA, Stout NK, Alagoz O, Hampton J, Kerlikowske K, de Koning HJ, Miglioretti DL, van Ravesteyn NT, Schechter C, Sprague BL, Tosteson ANA, Trentham-Dietz A, Weaver D, Yaffe MJ, Yeh JM, Couch FJ, Hu C, Kraft P, Polley EC, Mandelblatt JS, Kurian AW, Robson ME, for the Breast Working Group of the Cancer Intervention and Surveillance Modeling Network (CISNET), in collaboration with the Breast Cancer Surveillance Consortium (BCSC), and the Cancer Risk Estimates Related to Susceptibility (CARRIERS) Consortium. Screening Strategies for Women With ATM, CHEK2, and PALB2 Pathogenic Variants: A Comparative Modeling Analysis. JAMA Oncol. 2022. Epub 20220217. PubMed PMID: 35175286. doi:10.1001/jamaoncol.2021.6204 [Link]
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