| Authors: |
Lowry, K. P.; Geuzinge, H. A.; Stout, N. K.; Alagoz, O.; Hampton, J.; Kerlikowske, K.; de Koning, H. J.; Miglioretti, D. L.; van Ravesteyn, N. T.; Schechter, C.; Sprague, B. L.; Tosteson, A. N. A.; Trentham-Dietz, A.; Weaver, D.; Yaffe, M. J.; Yeh, J. M.; Couch, F. J.; Hu, C.; Kraft, P.; Polley, E. C.; Mandelblatt, J. S.; Kurian, A. W.; Robson, M. E.; for the Breast Working Group of the Cancer Intervention and Surveillance Modeling Network (CISNET); in collaboration with the Breast Cancer Surveillance Consortium (BCSC); in collaboration with the Cancer Risk Estimates Related to Susceptibility (CARRIERS) Consortium |
| Contributors: |
Hart, S. N.; Nathanson, K. L.; Domchek, S. M.; Ambrosone, C. B.; Anton-Culver, H.; Auer, P.; Bandera, E. V.; Berstein, L.; Bertrand, K. A.; Burnside, E. S.; Carter, B. D.; Eliassen, H.; Gaudet, M.; Haiman, C.; Hodge, J. M.; Hunter, D. J.; Jacobs, E. J.; John, E. M.; Kooperberg, C.; Lacey, J. V.; Le Marchand, L.; Lindstrom, S.; Ma, H.; Martinez, E.; Neuhausen, S.; Newcomb, P. A.; O'Brien, K. M.; Olson, J. E.; Ong, I. M.; Pal, T.; Palmer, J. R.; Patel, A. V.; Reid, S.; Rosenberg, L.; Sandler, D. P.; Tamimi, R.; Taylor, J. A.; Teras, L.; Vachon, C. M.; Weinberg, C.; Yadav, S.; Yao, S.; Ziogas, A.; Weitzel, J. N.; Goldgar, D. E. |
| Article Title: |
Breast cancer screening strategies for women with ATM, CHEK2, and PALB2 pathogenic variants: A comparative modeling analysis |
| Abstract: |
Importance: Screening mammography and magnetic resonance imaging (MRI) are recommended for women with ATM, CHEK2, and PALB2 pathogenic variants. However, there are few data to guide screening regimens for these women. Objective: To estimate the benefits and harms of breast cancer screening strategies using mammography and MRI at various start ages for women with ATM, CHEK2, and PALB2 pathogenic variants. Design, Setting, and Participants: This comparative modeling analysis used 2 established breast cancer microsimulation models from the Cancer Intervention and Surveillance Modeling Network (CISNET) to evaluate different screening strategies. Age-specific breast cancer risks were estimated using aggregated data from the Cancer Risk Estimates Related to Susceptibility (CARRIERS) Consortium for 32247 cases and 32544 controls in 12 population-based studies. Data on screening performance for mammography and MRI were estimated from published literature. The models simulated US women with ATM, CHEK2, or PALB2 pathogenic variants born in 1985. Interventions: Screening strategies with combinations of annual mammography alone and with MRI starting at age 25, 30, 35, or 40 years until age 74 years. Main Outcomes and Measures: Estimated lifetime breast cancer mortality reduction, life-years gained, breast cancer deaths averted, total screening examinations, false-positive screenings, and benign biopsies per 1000 women screened. Results are reported as model mean values and ranges. Results: The mean model-estimated lifetime breast cancer risk was 20.9% (18.1%-23.7%) for women with ATM pathogenic variants, 27.6% (23.4%-31.7%) for women with CHEK2 pathogenic variants, and 39.5% (35.6%-43.3%) for women with PALB2 pathogenic variants. Across pathogenic variants, annual mammography alone from 40 to 74 years was estimated to reduce breast cancer mortality by 36.4% (34.6%-38.2%) to 38.5% (37.8%-39.2%) compared with no screening. Screening with annual MRI starting at 35 years followed by annual mammography and MRI at 40 years was estimated to reduce breast cancer mortality by 54.4% (54.2%-54.7%) to 57.6% (57.2%-58.0%), with 4661 (4635-4688) to 5001 (4979-5023) false-positive screenings and 1280 (1272-1287) to 1368 (1362-1374) benign biopsies per 1000 women. Annual MRI starting at 30 years followed by mammography and MRI at 40 years was estimated to reduce mortality by 55.4% (55.3%-55.4%) to 59.5% (58.5%-60.4%), with 5075 (5057-5093) to 5415 (5393-5437) false-positive screenings and 1439 (1429-1449) to 1528 (1517-1538) benign biopsies per 1000 women. When starting MRI at 30 years, initiating annual mammography starting at 30 vs 40 years did not meaningfully reduce mean mortality rates (0.1% [0.1%-0.2%] to 0.3% [0.2%-0.3%]) but was estimated to add 649 (602-695) to 650 (603-696) false-positive screenings and 58 (41-76) to 59 (41-76) benign biopsies per 1000 women. Conclusions and Relevance: This analysis suggests that annual MRI screening starting at 30 to 35 years followed by annual MRI and mammography at 40 years may reduce breast cancer mortality by more than 50% for women with ATM, CHEK2, and PALB2 pathogenic variants. In the setting of MRI screening, mammography prior to 40 years may offer little additional benefit.. © 2022 American Medical Association. All rights reserved. |
| Keywords: |
adult; controlled study; aged; major clinical study; genetics; cancer risk; comparative study; cancer staging; nuclear magnetic resonance imaging; antineoplastic agent; gene; breast cancer; breast; genetic variability; cancer screening; mass screening; diagnostic imaging; breast neoplasms; cancer mortality; age; population research; mammography; breast tumor; atm protein; computer simulation; checkpoint kinase 2; neoadjuvant chemotherapy; computer model; risk reduction; false positive result; early detection of cancer; breast biopsy; atm gene; procedures; mortality rate; chek2 gene; palb2 gene; humans; human; male; female; article; palb2 protein, human; ataxia telangiectasia mutated proteins; early cancer diagnosis; chek2 protein, human; digital breast tomosynthesis; partner and localizer of brca2; ductal breast carcinoma in situ; atm protein, human; fanconi anemia complementation group n protein
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| Journal Title: |
JAMA Oncology
|
| Volume: |
8 |
| Issue: |
4 |
| ISSN: |
2374-2437 |
| Publisher: |
American Medical Association
|
| Date Published: |
2022-05-01 |
| Start Page: |
587 |
| End Page: |
596 |
| Language: |
English |
| DOI: |
10.1001/jamaoncol.2021.6204
|
| PUBMED: |
35175286
|
| PROVIDER: |
scopus
|
| PMCID: |
PMC8855312
|
| DOI/URL: |
|
| Notes: |
Article -- Export Date: 1 June 2022 -- Source: Scopus |
