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Guest Editorial| Volume 30, ISSUE 2, P255-257, February 2023

Pregnancy-Associated Breast Cancer in BRCA1/2 Carriers: Is Intensified Breast Ultrasound Surveillance Warranted?

Published:December 19, 2022DOI:https://doi.org/10.1016/j.acra.2022.11.004
Pregnancy-Associated Breast Cancer in BRCA1/2 Carriers: Is Intensified Breast Ultrasound Surveillance Warranted?
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      Breast and ovarian cancer are present in several autosomal dominant cancer syndromes, although they are most strongly associated with highly penetrant germline pathogenic variants of BRCA1 and BRCA2 (

      PDQ Cancer Genetics Editorial Board. Genetics of Breast and Gynecologic Cancers (PDQ®): Health professional version. 2022 Apr 20. In: PDQ cancer information summaries [Internet]. Bethesda, MD: National Cancer Institute (US); 2002. PMID: 26389210.

      ). BRCA gene mutation carriers have substantially increased lifetime risk (>70%) for developing breast cancer (
      • Kuchenbaecker KB
      • Hopper JL
      • Barnes DR
      • et al.
      Risks of breast, ovarian, and contralateral breast cancer for BRCA1 and BRCA2 mutation carriers.
      JAMA. 2017; 317 (PMID:28632866): 2402-2416https://doi.org/10.1001/jama.2017.7112
      ) Although breast cancer risk varies throughout a woman's lifetime, the excess risk related to mutations in these genes is most evident during the reproductive years, with the average age of female breast cancer diagnosis among BRCA1 mutation carriers at 42 years, 20 years younger than the average population (
      • Brose MS
      • Rebbeck TR
      • Calzone KA
      • et al.
      Cancer risk estimates for BRCA1 mutation carriers identified in a risk evaluation program.
      JNCI: J Natl Cancer Inst. 2002; 94: 1365-1372https://doi.org/10.1093/jnci/94.18.1365
      ), and breast cancer annual risk of 3.8% between ages 25 and 40 (
      • Lubinski J
      • Huzarski T
      • Byrski T
      • et al.
      The risk of breast cancer in women with a BRCA1 mutation from North America and Poland.
      Int J Cancer. 2012; 131: 229-234https://doi.org/10.1002/ijc.26369
      ). Breast cancer screening strategies, including breast magnetic resonance imaging (MRI) and mammography, are commonly performed in BRCA mutation carriers. Screening is recommended at earlier ages in individuals with an increased risk (

      PDQ Cancer Genetics Editorial Board. Genetics of Breast and Gynecologic Cancers (PDQ®): Health professional version. 2022 Apr 20. In: PDQ cancer information summaries [Internet]. Bethesda, MD: National Cancer Institute (US); 2002. PMID: 26389210.

      ), with current guidelines recommending annual breast MRI starting at age 25 and annual mammogram added at age 30 (
      • Monticciolo DL
      • Newell MS
      • Moy L
      • et al.
      Breast cancer screening in women at higher-than-average risk: recommendations from the ACR.
      J Am Coll Radiol. 2018; 15 (Epub 2018 Jan 19. PMID:29371086): 408-414https://doi.org/10.1016/j.jacr.2017.11.034

      NCCN guidelines: Genetic/familial high-risk assessment: breast, ovarian, and pancreatic. Version 1.2023 — September 7, 2022. Available at: https://www.nccn.org/professionals/physician_gls/pdf/genetics_bop.pdf. Accessed October 18, 2022.

      ). There is evidence that these strategies are useful in early cancer detection as well as improving overall survival (
      • Lowry KP
      • Lee JM
      • Kong CY
      • et al.
      Annual screening strategies in BRCA1 and BRCA2 gene mutation carriers: a comparative effectiveness analysis.
      Cancer. 2012; 118 (Epub 2011 Sep 20. Erratum in: Cancer. 2012 Nov 1;118(21):5448. PMID:21935911; PMCID: PMC3245774): 2021-2030https://doi.org/10.1002/cncr.26424
      ).
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      References

      1. PDQ Cancer Genetics Editorial Board. Genetics of Breast and Gynecologic Cancers (PDQ®): Health professional version. 2022 Apr 20. In: PDQ cancer information summaries [Internet]. Bethesda, MD: National Cancer Institute (US); 2002. PMID: 26389210.

        View in Article
        • Kuchenbaecker KB
        • Hopper JL
        • Barnes DR
        • et al.
        Risks of breast, ovarian, and contralateral breast cancer for BRCA1 and BRCA2 mutation carriers.
        JAMA. 2017; 317 (PMID:28632866): 2402-2416https://doi.org/10.1001/jama.2017.7112
        View in Article
        • Brose MS
        • Rebbeck TR
        • Calzone KA
        • et al.
        Cancer risk estimates for BRCA1 mutation carriers identified in a risk evaluation program.
        JNCI: J Natl Cancer Inst. 2002; 94: 1365-1372https://doi.org/10.1093/jnci/94.18.1365
        View in Article
        • Lubinski J
        • Huzarski T
        • Byrski T
        • et al.
        The risk of breast cancer in women with a BRCA1 mutation from North America and Poland.
        Int J Cancer. 2012; 131: 229-234https://doi.org/10.1002/ijc.26369
        View in Article
        • Monticciolo DL
        • Newell MS
        • Moy L
        • et al.
        Breast cancer screening in women at higher-than-average risk: recommendations from the ACR.
        J Am Coll Radiol. 2018; 15 (Epub 2018 Jan 19. PMID:29371086): 408-414https://doi.org/10.1016/j.jacr.2017.11.034
        View in Article

      6. NCCN guidelines: Genetic/familial high-risk assessment: breast, ovarian, and pancreatic. Version 1.2023 — September 7, 2022. Available at: https://www.nccn.org/professionals/physician_gls/pdf/genetics_bop.pdf. Accessed October 18, 2022.

        View in Article
        • Lowry KP
        • Lee JM
        • Kong CY
        • et al.
        Annual screening strategies in BRCA1 and BRCA2 gene mutation carriers: a comparative effectiveness analysis.
        Cancer. 2012; 118 (Epub 2011 Sep 20. Erratum in: Cancer. 2012 Nov 1;118(21):5448. PMID:21935911; PMCID: PMC3245774): 2021-2030https://doi.org/10.1002/cncr.26424
        View in Article
        • Paris I
        • Di Giorgio D
        • Carbognin L
        • et al.
        Pregnancy-associated breast cancer: a multidisciplinary approach.
        Clin Breast Cancer. 2021; 21 (Epub 2020 Jul 20. PMID:32778512): e120-e127https://doi.org/10.1016/j.clbc.2020.07.007
        View in Article
        • Andersson TM
        • Johansson AL
        • Hsieh CC
        • et al.
        Increasing incidence of pregnancy-associated breast cancer in Sweden.
        Obstet Gynecol. 2009; 114 (PubMed CrossRef Google Scholar): 568-572
        View in Article
        • Cottreau CM
        • Dashevsky I
        • Andrade SE
        • et al.
        Pregnancy-associated cancer: a US population-based study.
        J Women's Health. 2018; 28 (CrossRef Google Scholar): 250-257
        View in Article
        • Eibye S
        • Kjær SK
        • Mellemkjær L
        Incidence of pregnancy-associated cancer in Denmark, 1977–2006.
        Obstet Gynecol. 2013; 122 (PubMed CrossRef Google Scholar): 608-617
        View in Article
        • Lee YY
        • Roberts CL
        • Dobbins T
        • et al.
        Incidence and outcomes of pregnancy-associated cancer in Australia, 1994–2008: a population-based linkage study.
        BJOG. 2012; 119 (CAS PubMed PubMed Central CrossRef Google Scholar): 1572-1582
        View in Article
        • Parazzini F
        • Franchi M
        • Tavani A
        • et al.
        Frequency of pregnancy related cancer: a population based linkage study in Lombardy, Italy.
        Int J Gynecol Cancer. 2017; 27: 613-619
        View in Article
        • Gooch JC
        • Chun J
        • Kaplowitz E
        • et al.
        Pregnancy-associated breast cancer in a contemporary cohort of newly diagnosed women.
        Breast J. 2020; 26 (Epub 2019 Aug 25. PMID:31448522): 668-671https://doi.org/10.1111/tbj.13510
        View in Article
        • Hou N
        • Ogundiran T
        • Ojengbede O
        • et al.
        Risk factors for pregnancy-associated breast cancer: a report from the Nigerian Breast Cancer Study.
        Ann Epidemiol. 2013; 23 (Epub 2013 Jul 20. PMID:23880155; PMCID: PMC3770152): 551-557https://doi.org/10.1016/j.annepidem.2013.06.008
        View in Article

      16. OECD (2022), Fertility rates (indicator). doi:10.1787/8272fb01-en. Accessed October 10, 2022.

        View in Article
        • Faermann R
        • Friedman E
        • Kaidar-Person O
        • et al.
        Pregnancy associated breast cancer among Israeli BRCA1/BRCA2 carriers in a high-risk clinic.
        Acad Radiol. 2022; (00207-0. Epub ahead of print. PMID:35527100): S1076-S6332https://doi.org/10.1016/j.acra.2022.03.030
        View in Article
        • Kuhl CK
        • Schrading S
        • Leutner CC
        • et al.
        Mammography, breast ultrasound, and magnetic resonance imaging for surveillance of women at high familial risk for breast cancer.
        J Clin Oncol. 2005; 23 (PMID:16293877): 8469-8476https://doi.org/10.1200/JCO.2004.00.4960
        View in Article
        • Slanetz PJ
        • Moy L
        • et al.
        • Expert Panel on Breast Imaging: diFlorio-Alexander RM
        ACR Appropriateness Criteria® breast imaging of pregnant and lactating women.
        J Am Coll Radiol. 2018; 15 (PMID:30392595): S263-S275https://doi.org/10.1016/j.jacr.2018.09.013
        View in Article

      20. NCCN guidelines: breast cancer screening and diagnosis version 1.2022 — June 2, 2022. Available at: https://www.nccn.org/professionals/physician_gls/pdf/breast-screening.pdf Accessed October 19, 2022.

        View in Article
        • Nguyen CP
        • Goodman LH.
        Foetal risk in diagnostic radiology.
        Semin Ultrasound CT MR. 2012; 33: 4-10
        View in Article

      22. American College of Radiology. ACR manual on contrast media, Available at: https://www.acr.org/Clinical-Resources/Contrast-Manual. Accessed April 4, 2020.

        View in Article
        • Carmichael H
        • Matsen C
        • Freer P
        • et al.
        Breast cancer screening of pregnant and breastfeeding women with BRCA mutations.
        Breast Cancer Res Treat. 2017; 162 (Epub Jan 30, 2017): 225-230https://doi.org/10.1007/s10549-017-4122-y
        View in Article
        • Robbins J
        • Jeffries D
        • Roubidoux M
        • et al.
        Accuracy of diagnostic mammography and breast ultrasound during pregnancy and lactation.
        AJR Am J Roentgenol. 2011; 196 (Erratum in: AJR Am J Roentgenol. 2011 May;196(5):1237. PMID:21343518): 716-722https://doi.org/10.2214/AJR.09.3662
        View in Article
        • Kuhl C
        • Weigel S
        • Schrading S
        • et al.
        Prospective multicenter cohort study to refine management recommendations for women at elevated familial risk of breast cancer: the EVA trial.
        J Clin Oncol. 2010; 28 (Epub 2010 Feb 22. PMID:20177029): 1450-1457https://doi.org/10.1200/JCO.2009.23.0839
        View in Article
        • Riedl CC
        • Luft N
        • Bernhart C
        • et al.
        Triple-modality screening trial for familial breast cancer underlines the importance of magnetic resonance imaging and questions the role of mammography and ultrasound regardless of patient mutation status, age, and breast density.
        J Clin Oncol. 2015; 33 (Epub 2015 Feb 23. PMID:25713430; PMCID: PMC5526626): 1128-1135https://doi.org/10.1200/JCO.2014.56.8626
        View in Article
        • van Zelst JCM
        • Mus RDM
        • Woldringh G
        • et al.
        Surveillance of women with the BRCA1 or BRCA2 mutation by using biannual automated breast US, MR imaging, and mammography.
        Radiology. 2017; 285 (Epub 2017 Jun 13. PMID:28609204): 376-388https://doi.org/10.1148/radiol.2017161218
        View in Article
        • Bosse K
        • Graeser M
        • Goßmann A
        • et al.
        Supplemental screening ultrasound increases cancer detection yield in BRCA1 and BRCA2 mutation carriers.
        Arch Gynecol Obstet. 2014; 289 (Epub 2013 Sep 18. PMID:24045978): 663-670https://doi.org/10.1007/s00404-013-3022-6
        View in Article
        • Johannsson O
        • Loman N
        • Borg A
        • et al.
        Pregnancy-associated breast cancer in BRCA1 and BRCA2 germline mutation carriers.
        Lancet. 1998; 352 (PMID:9802282): 1359-1360https://doi.org/10.1016/S0140-6736(05)60750-7
        View in Article
        • Sessa C
        • Balmaña J
        • Bober SL
        • et al.
        Risk reduction and screening of cancer in hereditary breast-ovarian cancer syndromes: ESMO clinical practice guideline.
        Ann Oncol. 2022; (04193-X. Epub ahead of print. PMID:36307055): S0923-S7534https://doi.org/10.1016/j.annonc.2022.10.004
        View in Article

      Article info

      Publication history

      Published online: December 19, 2022
      Accepted: November 2, 2022
      Received: November 1, 2022

      Identification

      DOI: https://doi.org/10.1016/j.acra.2022.11.004

      Copyright

      © 2022 The Association of University Radiologists. Published by Elsevier Inc. All rights reserved.

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