A matched case-control study of the prognosis of early breast cancer in patients with Li-Fraumeni syndrome (BREAST TP53)

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Tipo de produção
article
Data de publicação
2023
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CHURCHILL LIVINGSTONE
Citação
BREAST, v.68, p.157-162, 2023
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Resumo
Introduction: Breast cancer (BC) is the most common type of cancer in premenopausal women with germline TP53 pathogenic variants (mTP53) (Li Fraumeni syndrome -LFS). However, little is known about the BC prognosis in these patients. This study analyzed the BC-related oncologic outcomes of patients with LFS.Methods: We evaluated a cohort of LFS patients with BC in comparison with a control cohort of BC patients with no pathogenic variant in a hereditary cancer panel. The primary endpoint was recurrence-free survival (RFS). Due to the risk of second malignancies in LFS, only locoregional and distant recurrences were considered events for RFS. Secondary endpoints included rates of contralateral BC, overall survival (OS), and breast cancer-specific survival (BCSS).Results: Forty-one patients were evaluated in the mTP53 group and 82 in the control group. Median age at BC diagnosis was 40 and 41 years, respectively. The mTP53 group received less adjuvant radiotherapy than the control group (63.4% vs 93.9%, P < 0.001). Other relevant baseline characteristics and treatment received were similar between groups. 5y-RFS rates were 79.4% in the mTP53 versus 93.6% in the control group (HR 2.43, 95% CI 0.74-8.01, P = 0.143); and were not impacted by the use of adjuvant radiotherapy. 5y-BCSS rates were 92.2% and 98.6%, respectively (HR 1.87, IC95% 0.25-13.48, P = 0.534).Conclusions: Our results showed no statistically significant difference in BC-related RFS and BCSS between pa-tients with mTP53 and a control group with no pathogenic variant. Larger multicentric studies are warranted to confirm these results.
Palavras-chave
Breast cancer, Li Fraumeni syndrome, TP53, Hereditary, Phenotype
Referências
  1. Achatz MI, 2016, CSH PERSPECT MED, V6, DOI 10.1101/cshperspect.a026195
  2. Achatz MI, 2008, CANCER LETT, V261, P21
  3. Amadou A, 2018, CURR OPIN ONCOL, V30, P23, DOI 10.1097/CCO.0000000000000423
  4. Andrade KC, 2016, GENET MOL BIOL, V39, P199, DOI 10.1590/1678-4685-GMB-2014-0343
  5. Bakhuizen JJ, 2019, FAM CANCER, V18, P273, DOI 10.1007/s10689-018-00118-0
  6. BIRCH JM, 1994, CANCER RES, V54, P1298
  7. Bougeard G, 2015, J CLIN ONCOL, V33, P2345, DOI 10.1200/JCO.2014.59.5728
  8. Chompret A, 2000, BRIT J CANCER, V82, P1932
  9. Chompret A, 2001, J MED GENET, V38, P43, DOI 10.1136/jmg.38.1.43
  10. Eeles RA, 1995, CANCER SURV, V25, P101
  11. Fortuno C, 2018, HUM MUTAT, V39, P1764, DOI 10.1002/humu.23656
  12. FREBOURG T, 1992, CANCER RES, V52, P6976
  13. FREBOURG T, 1992, P NATL ACAD SCI USA, V89, P6413, DOI 10.1073/pnas.89.14.6413
  14. Gonzalez KD, 2009, J CLIN ONCOL, V27, P1250, DOI 10.1200/JCO.2008.16.6959
  15. Guo YH, 2022, BREAST, V65, P55, DOI 10.1016/j.breast.2022.07.002
  16. Kopanos C, 2019, BIOINFORMATICS, V35, P1978, DOI 10.1093/bioinformatics/bty897
  17. LI FP, 1988, CANCER RES, V48, P5358
  18. LI FP, 1969, ANN INTERN MED, V71, P747, DOI 10.7326/0003-4819-71-4-747
  19. Mai PL, 2016, CANCER-AM CANCER SOC, V122, P3673, DOI 10.1002/cncr.30248
  20. MALKIN D, 1990, SCIENCE, V250, P1233, DOI 10.1126/science.1978757
  21. Malkin D, 2011, ADRENOCORTICAL CARCINOMA: BASIC SCIENCE AND CLINICAL CONCEPTS, P173, DOI 10.1177/1947601911413466
  22. McLaughlin JR, 2013, JNCI-J NATL CANCER I, V105, P141, DOI 10.1093/jnci/djs494
  23. Overgaard J, 2000, ACTA ONCOL, V39, P327, DOI 10.1080/028418600750013096
  24. Palmero EI, 2008, CANCER LETT, V261, P21, DOI 10.1016/j.canlet.2007.10.044
  25. Petry V, 2020, FAM CANCER, V19, P47, DOI 10.1007/s10689-019-00153-5
  26. Pinto Emilia M., 2004, Arq Bras Endocrinol Metab, V48, P647, DOI 10.1590/S0004-27302004000500009
  27. Richards S, 2015, GENET MED, V17, P405, DOI 10.1038/gim.2015.30
  28. Ruijs MWG, 2010, J MED GENET, V47, P421, DOI 10.1136/jmg.2009.073429
  29. Schneider K, 2010, GENEREVIEWS
  30. Sheng S, 2020, INT J CANCER, V146, P487, DOI 10.1002/ijc.32424
  31. Shin SJ, 2020, CANCER RES, V80, P354, DOI 10.1158/0008-5472.CAN-19-0728
  32. Soussi T, 2015, CELL DEATH DIFFER, P1
  33. Templeton AJ, 2016, PLOS ONE, V11, DOI 10.1371/journal.pone.0154789