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Breast Cancer Research and Treatment

Erschienen in:

15.10.2021 | Epidemiology

Uptake and timing of bilateral and contralateral risk-reducing mastectomy in women with Li–Fraumeni syndrome

verfasst von: Atara Siegel, Renee C. Bremer, William M. P. Klein, Sharon A. Savage, Jennifer T. Loud, Payal P. Khincha

Erschienen in: Breast Cancer Research and Treatment | Ausgabe 1/2022

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Abstract

Purpose

Women with Li–Fraumeni Syndrome (LFS) often consider risk-reducing mastectomy (RRM) due to extremely high risk of breast cancer at early ages. Data on uptake of RRM in LFS are scarce, and are inferred from experience in women with pathogenic variants (PVs) in BRCA1/2, despite differences in cancer risks. This study evaluated RRM uptake in a cohort of women with LFS.

Methods

Women (n = 205) with LFS enrolled in NCI’s LFS study reported lifetime cancer diagnoses and mastectomies and completed questionnaires regarding reproductive history, cancer worry and risk perceptions. A subset of women participating in an annual cancer screening study received counseling regarding RRM.

Results

65% (n = 71) of women diagnosed with presumed unilateral breast cancer (n = 109) underwent contralateral RRM over their lifetime. Nearly half (49%, n = 25) of the women who did not complete contralateral RRM within one year of their breast cancer diagnosis (n = 51) developed contralateral breast cancer (median interval = 6 years). Only 18.5% (n = 15) of women without breast cancer history (n = 81) underwent bilateral RRM. Median age at bilateral RRM of 39 years was sub-optimal for breast cancer risk reduction. Contralateral RRM was associated with early genetic diagnosis, participation in the screening study, and fewer prior cancers. Bilateral RRM uptake was associated with having had children, having breastfed, and high cancer worry.

Conclusion

Uptake of contralateral RRM is high in women with LFS. The frequency of contralateral breast cancer necessitates active discussion of benefits of contralateral RRM and counseling regarding bilateral RRM should be tailored to the early age at risk of breast cancer onset in LFS. There is a need for research into the survival and long-term benefits of RRM in LFS.

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Schneider K, Zelley K, Nichols KE, Garber J (1993) Li–Fraumeni syndrome. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K et al (eds) GeneReviews((R)). Springer, Seattle

Malkin D (2011) Li–Fraumeni syndrome. Genes Cancer 2(4):475–484CrossRef

Mai PL, Best AF, Peters JA, DeCastro RM, Khincha PP, Loud JT, Bremer RC, Rosenberg PS, Savage SA (2016) Risks of first and subsequent cancers among TP53 mutation carriers in the National Cancer Institute Li–Fraumeni syndrome cohort. Cancer 122(23):3673–4368CrossRef

Ballinger ML, Best A, Mai PL, Khincha PP, Loud JT, Peters JA, Achatz MI, Chojniak R, Balieiro da Costa A, Santiago KM, Garber J, O’Neill AF, Eeles RA, Evans DG, Bleiker E, Sonke GS, Ruijs M, Loo C, Schiffman J, Naumer A, Kohlmann W, Strong LC, Bojadzieva J, Malkin D, Rednam SP, Stoffel EM, Koeppe E, Weitzel JN, Slavin TP, Nehoray B, Robson M, Walsh M, Manelli L, Villani A, Thomas DM, Savage SA (2017) Baseline surveillance in Li–Fraumeni syndrome using whole-body magnetic resonance imaging: a meta-analysis. JAMA Oncol 3(12):1634–1639CrossRef

Kratz CP, Achatz MI, Brugières L, Frebourg T, Garber JE, Greer MC, Hansford JR, Janeway KA, Kohlmann WK, McGee R, Mullighan CG, Onel K, Pajtler KW, Pfister SM, Savage SA, Schiffman JD, Schneider KA, Strong LC, Evans DGR, Wasserman JD, Villani A, Malkin D (2017) Cancer screening recommendations for individuals with Li–Fraumeni syndrome. Clin Cancer Res 23(11):e38–e45CrossRef

Khincha PP, Best AF, Fraumeni JF Jr, Loud JT, Savage SA, Achatz MI (2019) Reproductive factors associated with breast cancer risk in Li–Fraumeni syndrome. Eur J Cancer 116:199–206CrossRef

Masciari S, Dillon DA, Rath M, Robson M, Weitzel JN, Balmana J, Gruber SB, Ford JM, Euhus D, Lebensohn A, Telli M, Pochebit SM, Lypas G, Garber JE (2012) Breast cancer phenotype in women with TP53 germline mutations: a Li–Fraumeni syndrome consortium effort. Breast Cancer Res Treat 133(3):1125–1130CrossRef

Bougeard G, Renaux-Petel M, Flaman JM, Charbonnier C, Fermey P, Belotti M, Gauthier-Villars M, Stoppa-Lyonnet D, Consolino E, Brugières L, Caron O, Benusiglio PR, Bressac-de Paillerets B, Bonadona V, Bonaïti-Pellié C, Tinat J, Baert-Desurmont S, Frebourg T (2015) Revisiting Li–Fraumeni syndrome from TP53 mutation carriers. J Clin Oncol 33(21):2345–2352CrossRef

National Comprehensive Cancer Network (2020) Genetic/familial high-risk assessment: breast, ovarian & pancreatic. (Version 1.2020). https://www.nccn.org/professionals/physician_gls/pdf/genetics_bop.pdf. Accessed 17 April 2020

10.

Friebel TM, Domchek SM, Neuhausen SL, Wagner T, Evans DG, Isaacs C, Garber JE, Daly MB, Eeles R, Matloff E, Tomlinson G, Lynch HT, Tung N, Blum JL, Weitzel J, Rubinstein WS, Ganz PA, Couch F, Rebbeck TR (2007) Bilateral prophylactic oophorectomy and bilateral prophylactic mastectomy in a prospective cohort of unaffected BRCA1 and BRCA2 mutation carriers. Clin Breast Cancer 7(11):875–882CrossRef

11.

Skytte AB, Gerdes AM, Andersen MK, Sunde L, Brøndum-Nielsen K, Waldstrøm M, Kølvraa S, Crüger D (2010) Risk-reducing mastectomy and salpingo-oophorectomy in unaffected BRCA mutation carriers: uptake and timing. Clin Genet 77(4):342–349CrossRef

12.

Metcalfe KA, Birenbaum-Carmeli D, Lubinski J, Gronwald J, Lynch H, Moller P, Ghadirian P, Foulkes WD, Klijn J, Friedman E, Kim-Sing C, Ainsworth P, Rosen B, Domchek S, Wagner T, Tung N, Manoukian S, Couch F, Sun P, Narod SA, Hereditary Breast Cancer Clinical Study Group (2008) International variation in rates of uptake of preventive options in BRCA1 and BRCA2 mutation carriers. Int J Cancer 122(9):2017–2022CrossRef

13.

Gilbert E, Zabor EC, Stempel M, Mangino D, Heerdt A, Pilewskie M (2017) Differences among a modern cohort of BRCA mutation carriers choosing bilateral prophylactic mastectomies compared to breast surveillance. Ann Surg Oncol 24(10):3048–3054CrossRef

14.

van Dijk S, van Roosmalen MS, Otten W, Stalmeier PF (2008) Decision making regarding prophylactic mastectomy: stability of preferences and the impact of anticipated feelings of regret. J Clin Oncol 26(14):2358–2363CrossRef

15.

Werner-Lin A (2008) Beating the biological clock: the compressed family life cycle of young women with BRCA gene alterations. Soc Work Health Care 47(4):416–437CrossRef

16.

Li X, You R, Wang X, Liu C, Xu Z, Zhou J, Bin Y, Xu T, Cai H, Zou Q (2016) Effectiveness of prophylactic surgeries in BRCA1 or BRCA2 mutation carriers: a meta-analysis and systematic review. Clin Cancer Res 22(15):3971–3981CrossRef

17.

Ludwig KK, Neuner J, Butler A, Geurts JL, Kong AL (2016) Risk reduction and survival benefit of prophylactic surgery in BRCA mutation carriers, a systematic review. Am J Surg 212(4):660–669CrossRef

18.

Haroun I, Graham T, Poll A, Sun P, Hill K, Weitzner E, Narod S, Warner E (2011) Reasons for risk-reducing mastectomy versus MRI-screening in a cohort of women at high hereditary risk of breast cancer. Breast 20(3):254–258CrossRef

19.

Bebbington-Hatcher M, Fallowfield L, A’Hern R (2001) The psychosocial impact of bilateral prophylactic mastectomy: prospective study using questionnaires and semistructured interviews. BMJ 322(7278):76CrossRef

20.

Portnoy DB, Loud JT, Han PKJ, Mai PK, Greene MH (2014) Effects of false-positive screenings and worry on risk-reducing surgery among BRCA1/2 carriers. Health Psychol 34:709–717CrossRef

21.

Katapodi MC, Lee KA, Facione NC, Dodd MJ (2004) Predictors of perceived breast cancer risk and the relation between perceived risk and breast cancer screening: a meta-analytic review. Prev Med 38(4):388–402CrossRef

22.

Bresser PJ, Seynaeve C, Van Gool AR, Niermeijer MF, Duivenvoorden HJ, van Dooren S, van Geel AN, Menke-Pluijmers MB, Klijn JG, Tibben A (2007) The course of distress in women at increased risk of breast and ovarian cancer due to an (identified) genetic susceptibility who opt for prophylactic mastectomy and/or salpingo-oophorectomy. Eur J Cancer 43(1):95–103CrossRef

23.

Gopie JP, Mureau MA, Seynaeve C, ter Kuile MM, Menke-Pluymers MB, Timman R, Tibben A (2013) Body image issues after bilateral prophylactic mastectomy with breast reconstruction in healthy women at risk for hereditary breast cancer. Fam Cancer 12(3):479–487CrossRef

24.

Mai PL, Khincha PP, Loud JT, DeCastro RM, Bremer RC, Peters JA, Liu CY, Bluemke DA, Malayeri AA, Savage SA (2017) Prevalence of cancer at baseline screening in the National Cancer Institute Li–Fraumeni syndrome cohort. JAMA Oncol 3(12):1640–1645CrossRef

25.

Lerman C, Daly M, Masny A, Balshem A (1994) Attitudes about genetic testing for breast-ovarian cancer susceptibility. J Clin Oncol 12(4):843–850CrossRef

26.

Struewing JP, Lerman C, Kase RG, Giambarresi TR, Tucker MA (1995) Anticipated uptake and impact of genetic testing in hereditary breast and ovarian cancer families. Cancer Epidemiol Biomarkers Prev 4(2):169–173PubMed

27.

IBM Corp (2019) Released 2019. IBM SPSS statistics for windows, version 260. IBM Corp, Armonk

28.

Metcalfe KA, Lubinski J, Ghadirian P, Lynch H, Kim-Sing C, Friedman E, Foulkes WD, Domchek S, Ainsworth P, Isaacs C, Tung N, Gronwald J, Cummings S, Wagner T, Manoukian S, Møller P, Weitzel J, Sun P, Narod SA, Hereditary Breast Cancer Clinical Study Group (2008) Predictors of contralateral prophylactic mastectomy in women with a BRCA1 or BRCA2 mutation: the Hereditary Breast Cancer Clinical Study Group. J Clin Oncol 26(7):1093–1097CrossRef

29.

Beattie MS, Crawford B, Lin F, Vittinghoff E, Ziegler J (2009) Uptake, time course, and predictors of risk-reducing surgeries in BRCA carriers. Genet Test Mol Biomarkers 13(1):51–56CrossRef

30.

Garcia C, Wendt J, Lyon L, Jones J, Littell RD, Armstrong MA, Raine-Bennett T, Powell CB (2014) Risk management options elected by women after testing positive for a BRCA mutation. Gynecol Oncol 132(2):428–433CrossRef

31.

NCCN: National Comprehensive Cancer Network. Breast cancer. (version 4.2020). https://www.nccn.org/professionals/physician_gls/pdf/breast_blocks.pdf. Accessed 30 June 2020

32.

Rosen PP, Groshen S, Kinne DW et al (1993) Factors influencing prognosis in node-negative breast carcinoma: analysis of 767 T1N0M0/T2N0M0 patients with long-term follow-up. J Clin Oncol 11(11):2090–2100CrossRef

33.

Abbott A, Rueth N, Pappas-Varco S et al (2011) Perceptions of contralateral breast cancer: an overestimation of risk. Ann Surg Oncol 18(11):3129–3136CrossRef

34.

Nichols HB, de González AB, Lacey JV et al (2011) Declining incidence of contralateral breast cancer in the United States from 1975 to 2006. J Clin Oncol 29(12):1564–1569CrossRef

35.

Heron DE, Komarnicky LT, Hyslop T et al (2000) Bilateral breast carcinoma: risk factors and outcomes for patients with synchronous and metachronous disease. Cancer 88(12):2739–2750CrossRef

36.

Graeser MK, Engel C, Rhiem K et al (2009) Contralateral breast cancer risk in BRCA1 and BRCA2 mutation carriers. J Clin Oncol 27(35):5887–5892CrossRef

37.

Garber JE, Golshan M (2009) Contralateral breast cancer in BRCA1/BRCA2 mutation carriers: the story of the other side. J Clin Oncol 27(35):5862–5864CrossRef

38.

Hyder Z, Harkness EF, Woodward ER, Bowers NL, Pereira M, Wallace AJ, Howell SJ, Howell A, Lalloo F, Newman WG, Smith MJ, Evans DG (2020) Risk of contralateral breast cancer in women with and without pathogenic variants in BRCA1, BRCA2, and TP53 genes in women with very early-onset (< 36 years) breast cancer. Cancers 12:2CrossRef

39.

Soran A, Ibrahim A, Kanbour M, McGuire K, Balci FL, Polat A, Thomas C, Bonaventura M, Ahrendt G, Johnson R (2015) Decision making and factors influencing long-term satisfaction with prophylactic mastectomy in women with breast cancer. Am J Clin Oncol 38:2CrossRef

Titel: Uptake and timing of bilateral and contralateral risk-reducing mastectomy in women with Li–Fraumeni syndrome
verfasst von: Atara Siegel
Renee C. Bremer
William M. P. Klein
Sharon A. Savage
Jennifer T. Loud
Payal P. Khincha
Publikationsdatum: 15.10.2021
Verlag: Springer US
Erschienen in: Breast Cancer Research and Treatment / Ausgabe 1/2022
Print ISSN: 0167-6806
Elektronische ISSN: 1573-7217
DOI: https://doi.org/10.1007/s10549-021-06410-5

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Uptake and timing of bilateral and contralateral risk-reducing mastectomy in women with Li–Fraumeni syndrome