Radiation Therapy in Patients with Germline Mutations: a Review of the Current Evidence

Siegel RL, Miller KD, Wagle NS, Jemal A. Cancer statistics, 2023. CA Cancer J Clin. 2023;73:17–48.

Article  PubMed  Google Scholar 

Fisher B, Bryant J, Dignam JJ, Wickerham DL, Mamounas EP, Fisher ER, et al. Tamoxifen, radiation therapy, or both for prevention of ipsilateral breast tumor recurrence after lumpectomy in women with invasive breast cancers of one centimeter or less. J Clin Oncol. 2002;20:4141–9.

Article  CAS  PubMed  Google Scholar 

Overgaard M, Jensen M-B, Overgaard J, Hansen PS, Rose C, Andersson M, et al. Postoperative radiotherapy in high-risk postmenopausal breast-cancer patients given adjuvant tamoxifen: Danish Breast Cancer Cooperative Group DBCG 82c randomised trial. Lancet. 1999;353:1641–8.

Article  CAS  PubMed  Google Scholar 

EBCTCG (Early Breast Cancer Trialists’ Collaborative Group), McGale P, Taylor C, Correa C, Cutter D, Duane F, et al. Effect of radiotherapy after mastectomy and axillary surgery on 10-year recurrence and 20-year breast cancer mortality: meta-analysis of individual patient data for 8135 women in 22 randomised trials. Lancet. 2014;383:2127–35.

Article  Google Scholar 

van Dongen JA, Voogd AC, Fentiman IS, Legrand C, Sylvester RJ, Tong D, et al. Long-term results of a randomized trial comparing breast-conserving therapy with mastectomy: European Organization for Research and Treatment of Cancer 10801 trial. J Natl Cancer Inst. 2000;92:1143–50.

Article  PubMed  Google Scholar 

Ragaz J, Olivotto IA, Spinelli JJ, Phillips N, Jackson SM, Wilson KS, et al. Locoregional radiation therapy in patients with high-risk breast cancer receiving adjuvant chemotherapy: 20-year results of the British Columbia randomized trial. J Natl Cancer Inst. 2005;97:116–26.

Article  PubMed  Google Scholar 

Overgaard M, Hansen PS, Overgaard J, Rose C, Andersson M, Bach F, et al. Postoperative radiotherapy in high-risk premenopausal women with breast cancer who receive adjuvant chemotherapy. N Engl J Med. 1997;337:949–55.

Article  CAS  PubMed  Google Scholar 

Manahan ER, Kuerer HM, Sebastian M, Hughes KS, Boughey JC, Euhus DM, et al. Consensus guidelines on genetic testing for hereditary breast cancer from the American society of breast surgeons. Ann Surg Oncol. 2019;26:3025–31.

Article  PubMed  PubMed Central  Google Scholar 

Hall JM, Lee MK, Newman B, Morrow JE, Anderson LA, Huey B, et al. Linkage of early-onset familial breast cancer to chromosome 17q21. Science. 1990;250:1684–9.

Article  CAS  PubMed  Google Scholar 

Hall JM, Friedman L, Guenther C, Lee MK, Weber JL, Black DM, et al. Closing in on a breast cancer gene on chromosome 17q. Am J Hum Genet. 1992;50:1235–42.

CAS  PubMed  PubMed Central  Google Scholar 

Narod SA, Feunteun J, Lynch HT, Watson P, Conway T, Lynch J, et al. Familial breast-ovarian cancer locus on chromosome 17q12-q23. Lancet. 1991;338:82–3.

Article  CAS  PubMed  Google Scholar 

Wooster R, Neuhausen SL, Mangion J, Quirk Y, Ford D, Collins N, et al. Localization of a breast cancer susceptibility gene, BRCA2, to chromosome 13q12-13. Science. 1994;265:2088–90.

Article  CAS  PubMed  Google Scholar 

Jin TY, Park KS, Nam SE, Yoo YB, Park WS, Yun IJ. BRCA1/2 serves as a biomarker for poor prognosis in breast carcinoma. Int J Mol Sci. 2022;23(7):3754. https://doi.org/10.3390/ijms23073754.

Kuchenbaecker KB, Hopper JL, Barnes DR, Phillips K-A, Mooij TM, Roos-Blom M-J, et al. Risks of breast, ovarian, and contralateral breast cancer for BRCA1 and BRCA2 mutation carriers. JAMA. 2017;317:2402–16.

Article  CAS  PubMed  Google Scholar 

Narod SA, Salmena L. BRCA1 and BRCA2 mutations and breast cancer. Discov Med. 2011;12:445–53.

PubMed  Google Scholar 

Ford D, Easton DF, Stratton M, Narod S, Goldgar D, Devilee P, et al. Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. The Breast Cancer Linkage Consortium. Am J Hum Genet. 1998;62:676–89.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Rebbeck TR, Friebel T, Lynch HT, Neuhausen SL, Van’t Veer L, Garber JE, et al. Bilateral prophylactic mastectomy reduces breast cancer risk in BRCA1 and BRCA2 mutation carriers: the PROSE Study Group. J Clin Oncol. 2004;22:1055–62.

Article  PubMed  Google Scholar 

Easton DF, Narod SA, Ford D, Steel M. The genetic epidemiology of BRCA1. Breast Cancer Linkage Consortium. Lancet. 1994;344:761.

Article  CAS  PubMed  Google Scholar 

Chen H, Wu J, Zhang Z, Tang Y, Li X, Liu S, et al. Association between BRCA status and triple-negative breast cancer: a meta-analysis. Front Pharmacol. 2018;9:909.

Article  PubMed  PubMed Central  Google Scholar 

Foulkes WD. BRCA1 and BRCA2: chemosensitivity, treatment outcomes and prognosis. Fam Cancer. 2006;5:135–42.

Article  CAS  PubMed  Google Scholar 

Huynh M-M, Pambid MR, Jayanthan A, Dorr A, Los G, Dunn SE. The dawn of targeted therapies for triple negative breast cancer (TNBC): a snapshot of investigational drugs in phase I and II trials. Expert Opin Investig Drugs. 2020;29:1199–208.

Article  CAS  PubMed  Google Scholar 

Pierce LJ, Levin AM, Rebbeck TR, Ben-David MA, Friedman E, Solin LJ, et al. Ten-year multi-institutional results of breast-conserving surgery and radiotherapy in BRCA1/2-associated stage I/II breast cancer. J Clin Oncol. 2006;24:2437–43.

Article  PubMed  Google Scholar 

Pierce LJ, Strawderman M, Narod SA, Oliviotto I, Eisen A, Dawson L, et al. Effect of radiotherapy after breast-conserving treatment in women with breast cancer and germline BRCA1/2 mutations. J Clin Oncol. 2000;18:3360–9.

Article  CAS  PubMed  Google Scholar 

Reiner AS, Robson ME, Mellemkjær L, Tischkowitz M, John EM, Lynch CF, et al. Radiation treatment, ATM, BRCA1/2, and CHEK2*1100delC pathogenic variants and risk of contralateral breast cancer. J Natl Cancer Inst. 2020;112:1275–9.

Article  PubMed  PubMed Central  Google Scholar 

Evron E, Ben-David AM, Goldberg H, et al. Prophylactic irradiation to the contralateral breast for BRCA mutation carriers with early-stage breast cancer. Ann Oncol. 2019;30(3):412–7.

Article  CAS  PubMed  Google Scholar 

Narod SA. Is bilateral radiation an option for BRCA mutation carriers with unilateral breast cancer? Ann Transl Med. 2019;7(8):165.

Article  PubMed  PubMed Central  Google Scholar 

Feroz W, Sheikh AMA. Exploring the multiple roles of guardian of the genome: P53. Egypt J Med Hum Genet. 2020;21:1–23.

Article  Google Scholar 

Olivier M, Hollstein M, Hainaut P. TP53 mutations in human cancers: origins, consequences, and clinical use. Cold Spring Harb Perspect Biol. 2010;2:a001008.

Article  PubMed  PubMed Central  Google Scholar 

Stewart-Ornstein J, Lahav G. p53 dynamics in response to DNA damage vary across cell lines and are shaped by efficiency of DNA repair and activity of the kinase ATM. Sci Signal. 2017;10. https://doi.org/10.1126/scisignal.aah6671.

Kruiswijk F, Labuschagne CF, Vousden KH. p53 in survival, death and metabolic health: a lifeguard with a licence to kill. Nat Rev Mol Cell Biol. 2015;16:393–405.

Article  CAS  PubMed  Google Scholar 

Vousden KH, Lane DP. p53 in health and disease. Nat Rev Mol Cell Biol. 2007;8:275–83.

Article  CAS  PubMed  Google Scholar 

Duffy MJ, Synnott NC, Crown J. Mutant p53 in breast cancer: potential as a therapeutic target and biomarker. Breast Cancer Res Treat. 2018;170:213–9.

Article  CAS  PubMed  Google Scholar 

Network CGA. Comprehensive molecular portraits of human breast tumours. Nature. 2012;490:61–70.

Article  Google Scholar 

Shah SP, Roth A, Goya R, Oloumi A, Ha G, Zhao Y, et al. The clonal and mutational evolution spectrum of primary triple-negative breast cancers. Nature. 2012;486:395–9.

Article  CAS  PubMed  Google Scholar 

Silwal-Pandit L, Vollan HKM, Chin S-F, Rueda OM, McKinney S, Osako T, et al. TP53 mutation spectrum in breast cancer is subtype specific and has distinct prognostic relevance. Clin Cancer Res. 2014;20:3569–80.

Article  CAS  PubMed  Google Scholar 

Nik-Zainal S, Davies H, Staaf J, Ramakrishna M, Glodzik D, Zou X, et al. Landscape of somatic mutations in 560 breast cancer whole-genome sequences. Nature. 2016;534:47–54.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Kriegsmann M, Endris V, Wolf T, Pfarr N, Stenzinger A, Loibl S, et al. Mutational profiles in triple-negative breast cancer defined by ultradeep multigene sequencing show high rates of PI3K pathway alterations and clinically relevant entity subgroup specific differences. Oncotarget. 2014;5:9952–65.

Article  PubMed  PubMed Central  Google Scholar 

Schon K, Tischkowitz M. Clinical implications of germline mutations in breast cancer: TP53. Breast Cancer Res Treat. 2018;167:417–23.

Article  CAS  PubMed  Google Scholar 

Heymann S, Delaloge S, Rahal A, Caron O, Frebourg T, Barreau L, et al. Radio-induced malignancies after breast cancer postoperative radiotherapy in patients with Li-Fraumeni syndrome. Radiat Oncol. 2010;5:104.

Article  PubMed 

Comments (0)

No login
gif