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Associations of pathogenic mutations responsible for breast cancer risk with histology and immunohistochemistry in Romanian population Cover

Associations of pathogenic mutations responsible for breast cancer risk with histology and immunohistochemistry in Romanian population

Open Access
|May 2018

References

  1. 1. Ferlay J, Steliarova-Foucher E, Lortet-Tieulent J, Rosso S, Coebergh JW, Comber H, et al. Cancer incidence and mortality patterns in Europe: estimates for 40 countries in 2012. Eur J Cancer. 2013; 49(6):1374-403. DOI: 10.1016/j.ejca.2012.12.02710.1016/j.ejca.2012.12.02723485231
  2. 2. 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(4988):1684-9. DOI: 10.1126/science.227048210.1126/.2270482
  3. 3. 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(5181):2088-90. DOI: 10.1126/science.809123110.1126/.8091231
  4. 4. Kurian AW, Kingham KE, Ford JM. Next-generation sequencing for hereditary breast and gynecologic cancer risk assessment. Curr Opin Obstet Gynecol. 2015; 27(1):23-33. DOI: 10.1097/GCO.000000000000014110.1097/GCO.000000000000014125502425
  5. 5. Hilbers FS, Vreeswijk MP, van Asperen CJ, Devilee P. The impact of next generation sequencing on the analysis of breast cancer susceptibility: a role for extremely rare genetic variation? Clin Genet. 2013; 84(5):407-14. DOI: 10.1111/cge.1225610.1111/cge.1225624025038
  6. 6. Sharma P, Klemp JR, Kimler BF, Mahnken JD, Geier LJ, Khan QJ, et al. Germline BRCA mutation evaluation in a prospective triple-negative breast cancer registry: implications for hereditary breast and/or ovarian cancer syndrome testing. Breast Cancer Res Treat. 2014; 145(3):707-14. DOI: 10.1007/s10549-014-2980-010.1007/s10549-014-2980-0417184724807107
  7. 7. Mavaddat N, Peock S, Frost D, Ellis S, Platte R, Fineberg E, et al. Cancer risks for BRCA1 and BRCA2 mutation carriers: results from prospective analysis of EMBRACE. J Natl Cancer Inst. 2013; 105(11):812-22. DOI: 10.1093/jnci/djt09510.1093/jnci/djt09523628597
  8. 8. Zaky SS, Lund M, May KA, Godette KD, Beitler JJ, Holmes LR, et al. The negative effect of triple-negative breast cancer on outcome after breast-conserving therapy. Ann Surg Oncol. 2011; 18(10):2858-65. DOI: 10.1245/s10434-011-1669-410.1245/s10434-011-1669-421442346
  9. 9. Domagala P, Jakubowska A, Jaworska-Bieniek K, Kaczmarek K, Durda K, Kurlapska A, et al. Prevalence of Germline Mutations in Genes Engaged in DNA Damage Repair by Homologous Recombination in Patients with Triple-Negative and Hereditary Non-Triple-Negative Breast Cancers. PLoS One. 2015; 10(6):e0130393. DOI: 10.1371/journal.pone.013039310.1371/journal.pone.0130393447115526083025
  10. 10. Morris JL, Gordon OK. Positive results : making the best decisions when you’re at high risk for breast or ovarian cancer. Amherst, N.Y.: Prometheus Books; 2010. 395 p. p.
  11. 11. Daly MB, Pilarski R, Axilbund JE, Berry M, Buys SS, Crawford B, et al. Genetic/Familial High-Risk Assessment: Breast and Ovarian, Version 2.2015. J Natl Compr Canc Netw. 2016; 14(2):153-62. DOI: 10.6004/jnccn.2016.001810.6004/jnccn.2016.001826850485
  12. 12. Chennagiri N, White EJ, Frieden A, Lopez E, Lieber DS, Nikiforov A, et al. Orthogonal NGS for High Throughput Clinical Diagnostics. Sci Rep. 2016; 6:24650. DOI: 10.1038/srep2465010.1038/srep24650483629927090146
  13. 13. Unger MA, Nathanson KL, Calzone K, Antin-Ozerkis D, Shih HA, Martin AM, et al. Screening for genomic rearrangements in families with breast and ovarian cancer identifies BRCA1 mutations previously missed by conformation-sensitive gel electrophoresis or sequencing. Am J Hum Genet. 2000; 67(4):841-50. DOI: 10.1086/30307610.1086/303076128788910978226
  14. 14. Weissgerber TL, Milic NM, Winham SJ, Garovic VD. Beyond bar and line graphs: time for a new data presentation paradigm. PLoS Biol. 2015; 13(4):e1002128. DOI: 10.1371/journal.pbio.100212810.1371/journal.pbio.1002128440656525901488
  15. 15. Kwong A, Chen JW, Shin VY. A new paradigm of genetic testing for hereditary breast/ovarian cancers. Hong Kong Med J. 2016; 22(2):171-7.10.12809/hkmj15463426980575
  16. 16. Weischer M, Bojesen SE, Tybjaerg-Hansen A, Axelsson CK, Nordestgaard BG. Increased risk of breast cancer associated with CHEK2*1100delC. J Clin Oncol. 2007; 25(1):57-63. DOI: 10.1200/JCO.2005.05.516010.1200/JCO.2005.05.516016880452
  17. 17. Domagala P, Huzarski T, Lubinski J, Gugala K, Domagala W. Immunophenotypic predictive profiling of BRCA1-associated breast cancer. Virchows Arch. 2011; 458(1):55-64. DOI: 10.1007/s00428-010-0988-310.1007/s00428-010-0988-3301619620941507
  18. 18. Negura L, Uhrhammer N, Negura A, Artenie V, Carasevici E, Bignon YJ. Complete BRCA mutation screening in breast and ovarian cancer predisposition families from a North-Eastern Romanian population. Fam Cancer. 2010; 9(4):519-23. DOI: 10.1007/s10689-010-9361-610.1007/s10689-010-9361-620567915
  19. 19. Burcos T, Cimponeriu D, Ion DA, Spandole S, Apostol P, Toma M, et al. Analysis of several BRCA1 and BRCA2 mutations in a hospital-based series of unselected breast cancer cases. Chirurgia (Bucur). 2013;108(4):468-72.
  20. 20. Walsh T, Casadei S, Lee MK, Pennil CC, Nord AS, Thornton AM, et al. Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing. Proc Natl Acad Sci U S A. 2011; 108(44):18032-7. DOI: 10.1073/pnas.111505210810.1073/pnas.1115052108320765822006311
  21. 21. Machackova E, Foretova L, Lukesova M, Vasickova P, Navratilova M, Coene I, et al. Spectrum and characterisation of BRCA1 and BRCA2 deleterious mutations in high-risk Czech patients with breast and/or ovarian cancer. BMC Cancer. 2008; 8:140. DOI: 10.1186/1471-2407-8-14010.1186/1471-2407-8-140241325418489799
  22. 22. Wojcik P, Jasiowka M, Strycharz E, Sobol M, Hodorowicz- Zaniewska D, Skotnicki P, et al. Recurrent mutations of BRCA1, BRCA2 and PALB2 in the population of breast and ovarian cancer patients in Southern Poland. Hered Cancer Clin Pract. 2016; 14:5. DOI: 10.1186/s13053-016-0046-510.1186/s13053-016-0046-5473908426843898
  23. 23. Cybulski C, Huzarski T, Byrski T, Gronwald J, Debniak T, Jakubowska A, et al. Estrogen receptor status in CHEK2-positive breast cancers: implications for chemoprevention. Clin Genet. 2009; 75(1):72-8. DOI: 10.1111/j.1399-0004.2008.01111.x10.1111/j.1399-0004.2008.01111.x
  24. 24. Liu C, Wang Y, Wang QS, Wang YJ. The CHEK2 I157T variant and breast cancer susceptibility: a systematic review and meta-analysis. Asian Pac J Cancer Prev. 2012; 13(4):1355-60. DOI: 10.7314/APJCP.2012.13.4.135510.7314/APJCP.2012.13.4.1355
  25. 25. Huszno J, Budryk M, Kolosza Z, Tecza K, Pamula Pilat J, Nowara E, et al. A Comparison between CHEK2*1100delC/I157T Mutation Carrier and Noncarrier Breast Cancer Patients: A Clinicopathological Analysis. Oncology. 2016; 90(4):193-8. DOI: 10.1159/00044432610.1159/000444326
  26. 26. Kriege M, Hollestelle A, Jager A, Huijts PE, Berns EM, Sieuwerts AM, et al. Survival and contralateral breast cancer in CHEK2 1100delC breast cancer patients: impact of adjuvant chemotherapy. Br J Cancer. 2014; 111(5):1004-13. DOI: 10.1038/bjc.2014.30610.1038/bjc.2014.306
  27. 27. Cybulski C, Kluzniak W, Huzarski T, Wokolorczyk D, Kashyap A, Jakubowska A, et al. Clinical outcomes in women with breast cancer and a PALB2 mutation: a prospective cohort analysis. Lancet Oncol. 2015; 16(6):638-44. DOI: 10.1016/S1470-2045(15)70142-710.1016/S1470-2045(15)70142-7
  28. 28. Heikkinen T, Karkkainen H, Aaltonen K, Milne RL, Heikkila P, Aittomaki K, et al. The breast cancer susceptibility mutation PALB2 1592delT is associated with an aggressive tumor phenotype. Clin Cancer Res. 2009; 15(9):3214-22. DOI: 10.1158/1078-0432.CCR-08-312810.1158/1078-0432.CCR-08-312819383810
  29. 29. Couch FJ, Hart SN, Sharma P, Toland AE, Wang X, Miron P, et al. Inherited mutations in 17 breast cancer susceptibility genes among a large triple-negative breast cancer cohort unselected for family history of breast cancer. J Clin Oncol. 2015; 33(4):304-11. DOI: 10.1200/JCO.2014.57.141410.1200/JCO.2014.57.1414430221225452441
  30. 30. Wilson JR, Bateman AC, Hanson H, An Q, Evans G, Rahman N, et al. A novel HER2-positive breast cancer phenotype arising from germline TP53 mutations.J Med Genet. 2010; 47(11):771-4. DOI: 10.1136/jmg.2010.07811310.1136/jmg.2010.07811320805372
  31. 31. Bougeard G, Renaux-Petel M, Flaman JM, Charbonnier C, Fermey P, Belotti M, et al. Revisiting Li-Fraumeni Syndrome From TP53 Mutation Carriers. J Clin Oncol. 2015; 33(21):2345-52. DOI: 10.1200/JCO.2014.59.572810.1200/JCO.2014.59.572826014290
  32. 32. Stagni V, Manni I, Oropallo V, Mottolese M, Di Benedetto A, Piaggio G, et al. ATM kinase sustains HER2 tumorigenicity in breast cancer. Nat Commun. 2015;6:6886. DOI: 10.1038/ncomms788610.1038/ncomms788625881002
  33. 33. Eccles DM, Li N, Handwerker R, Maishman T, Copson ER, Durcan LT, et al. Genetic testing in a cohort of young patients with HER2-amplified breast cancer. Ann Oncol. 2016; 27(3):467-73. DOI: 10.1093/annonc/mdv59210.1093/annonc/mdv59226681682
DOI: https://doi.org/10.1515/rrlm-2017-0037 | Journal eISSN: 2284-5623 | Journal ISSN: 1841-6624
Language: English
Page range: 165 - 175
Submitted on: Sep 25, 2017
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Accepted on: Dec 4, 2017
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Published on: May 17, 2018
In partnership with: Paradigm Publishing Services
Publication frequency: 4 issues per year

© 2018 Iulian Gabriel Goidescu, Dan Tudor Eniu, Gabriela Valentina Caracostea, Gheorghe Cruciat, Florin Stamatian, published by Romanian Association of Laboratory Medicine
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 License.