Skip to main content

Advertisement

Log in

The prevalence of BRCA1 and BRCA2 mutations among young Mexican women with triple-negative breast cancer

  • Epidemiology
  • Published:
Breast Cancer Research and Treatment Aims and scope Submit manuscript

Abstract

Various guidelines recommend that women with triple-negative breast cancer should be tested for BRCA1 mutations, but the prevalence of mutations may vary with ethnic group and with geographic region, and the optimal cutoff age for testing has not been established. We estimated the frequencies of BRCA1 and BRCA2 (BRCA) mutations among 190 women with triple-negative breast cancer, unselected for family history, diagnosed at age 50 or less at a single hospital in Mexico City. Patients were screened for 115 recurrent BRCA mutations, which have been reported previously in women of Hispanic origin, including a common large rearrangement Mexican founder mutation (BRCA1 ex9-12del). A BRCA mutation was detected in 44 of 190 patients with triple-negative breast cancer (23 %). Forty-three mutations were found in BRCA1 and one mutation was found in BRCA2. Seven different mutations accounted for 39 patients (89 % of the total mutations). The Mexican founder mutation (BRCA1 ex9-12del) was found 18 times and accounted for 41 % of all mutations detected. There is a high prevalence of BRCA1 mutations among young triple-negative breast cancer patients in Mexico. Women with triple-negative breast cancer in Mexico should be screened for mutations in BRCA1.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Similar content being viewed by others

References

  1. Data. ISabciM-Ot-N. [cited November 14, 2014]. Available from: http://www.inegi.org.mx/inegi/contenidos/espanol/prensa/Contenidos/estadisticas/2014/mama0.pdf

  2. Knaul FM, Nigenda G, Lozano R, Arreola-Ornelas H, Langer A, Frenk J (2008) Breast cancer in Mexico: a pressing priority. Reprod Health Matters 16:113–123

    Article  PubMed  Google Scholar 

  3. Chavarri-Guerra Y, Villarreal-Garza C, Liedke PE et al (2012) Breast cancer in Mexico: a growing challenge to health and the health system. Lancet Oncol 13:e335–e343

    Article  PubMed  Google Scholar 

  4. Weissman BE, Saxon PJ, Pasquale SR, Jones GR, Geiser AG, Stanbridge EJ (1987) Introduction of a normal human chromosome 11 into a Wilms’ tumor cell line controls its tumorigenic expression. Science 236:175–180

    Article  CAS  PubMed  Google Scholar 

  5. Rodriguez-Cuevas S, Guisa-Hohenstein F, Labastida-Almendaro S (2009) First breast cancer mammography screening program in Mexico: initial results 2005-2006. Breast J 15:623–631

    Article  PubMed  Google Scholar 

  6. Mohar A, Bargallo E, Ramirez MT, Lara F, Beltran-Ortega A (2009) Available resources for the treatment of breast cancer in Mexico. Salud Publica Mex 51(Suppl 2):s263–s269

    PubMed  Google Scholar 

  7. Lara-Medina F, Perez-Sanchez V, Saavedra-Perez D et al (2011) Triple-negative breast cancer in Hispanic patients: high prevalence, poor prognosis, and association with menopausal status, body mass index, and parity. Cancer 117:3658–3669

    Article  PubMed  Google Scholar 

  8. Villarreal-Garza C, Aguila C, Magallanes-Hoyos MC et al (2013) Breast cancer in young women in Latin America: an unmet, growing burden. Oncologist 18(Suppl):26–34

    Article  PubMed  Google Scholar 

  9. Trudeau M, Pritchard KI et al (2007) Triple-negative breast cancer: clinical features and patterns of recurrence. Clin Cancer Res 13:4429–4434

    Article  PubMed  Google Scholar 

  10. Solano AR, Aceto GM, Delettieres D et al (2012) BRCA1 And BRCA2 analysis of Argentinean breast/ovarian cancer patients selected for age and family history highlights a role for novel mutations of putative south-American origin. Springerplus 1:20

    Article  PubMed Central  PubMed  Google Scholar 

  11. Gomes MC, Costa MM, Borojevic R et al (2007) Prevalence of BRCA1 and BRCA2 mutations in breast cancer patients from Brazil. Breast Cancer Res Treat 103:349–353

    Article  CAS  PubMed  Google Scholar 

  12. Gonzalez-Hormazabal P, Gutierrez-Enriquez S et al (2011) Spectrum of BRCA1/2 point mutations and genomic rearrangements in high-risk breast/ovarian cancer Chilean families. Breast Cancer Res Treat 126:705–716

    Article  CAS  PubMed  Google Scholar 

  13. Hernandez JE, Llacuachaqui M, Palacio GV et al (2014) Prevalence of BRCA1 and BRCA2 mutations in unselected breast cancer patients from medellin, Colombia. Hered Cancer Clin Pract 12:11

    Article  PubMed Central  PubMed  Google Scholar 

  14. Gutierrez Espeleta GA, Llacuachaqui M, Garcia-Jimenez L et al (2012) BRCA1 and BRCA2 mutations among familial breast cancer patients from Costa Rica. Clin Genet 82(5):484–488

    Article  CAS  PubMed  Google Scholar 

  15. Vidal-Millan S, Taja-Chayeb L, Gutierrez-Hernandez O et al (2009) Mutational analysis of BRCA1 and BRCA2 genes in Mexican breast cancer patients. Eur J Gynaecol Oncol 30:527–530

    CAS  PubMed  Google Scholar 

  16. Calderón-Garcidueñas AL, Ruiz-Flores P, Cerda-Flores RM, Barrera-Saldaña HA (2005) Clinical follow up of Mexican women with early onset of breast cancer and mutations in the BRCA1 and BRCA2 genes. Salud Publica Mex 47(2):110–115

    Article  PubMed  Google Scholar 

  17. Vaca-Paniagua F, Alvarez-Gomez RM, Fragoso-Ontiveros V et al (2012) Full-Exon pyrosequencing screening of BRCA germline mutations in Mexican women with inherited breast and ovarian cancer. PLoS ONE 7:e37432

    Article  PubMed Central  CAS  PubMed  Google Scholar 

  18. Villarreal-Garza C, Alvarez-Gomez RM, Perez-Plasencia C et al (2014) Significant clinical impact of recurrent BRCA1 and BRCA2 mutations in Mexico, September 18. Cancer. doi:10.1002/cncr.29058

    PubMed Central  Google Scholar 

  19. Torres-Mejia G, Royer R, Llacuachaqui M, et al (2014) Recurrent BRCA1 and BRCA2 mutations in Mexican women with breast cancer. Cancer Epidemiol Biomark Prev

  20. Delgado L, Fernandez G, Grotiuz G et al (2011) BRCA1 and BRCA2 germline mutations in Uruguayan breast and breast-ovarian cancer families. Identification of novel mutations and unclassified variants. Breast Cancer Res Treat 128(1):211–218

    Article  CAS  PubMed  Google Scholar 

  21. Lara K, Consigliere N, Perez J, Porco A (2012) BRCA1 and BRCA2 mutations in breast cancer patients from Venezuela. Biol Res 45:117–130

    Article  PubMed  Google Scholar 

  22. Narod SA (2009) Screening for BRCA1 and BRCA2 mutations in breast cancer patients from Mexico: the public health perspective. Salud Publica Mex 51(Suppl 2):s191–s196

    Article  PubMed  Google Scholar 

  23. Weitzel JN, Lagos V, Blazer KR et al (2005) Prevalence of BRCA mutations and founder effect in high-risk Hispanic families. Cancer Epidemiol Biomark Prev 14:1666–1671

    Article  CAS  Google Scholar 

  24. Weitzel JN, Lagos VI, Herzog JS et al (2007) Evidence for common ancestral origin of a recurring BRCA1 genomic rearrangement identified in high-risk Hispanic families. Cancer Epidemiol Biomark Prev 16:1615–1620

    Article  CAS  Google Scholar 

  25. Weitzel JN, Clague J, Martir-Negron A et al (2013) Prevalence and type of BRCA mutations in Hispanics undergoing genetic cancer risk assessment in the southwestern United States: a report from the Clinical Cancer Genetics Community Research Network. J Clin Oncol 31:210–216

    Article  PubMed Central  CAS  PubMed  Google Scholar 

  26. Gallardo M, Silva A, Rubio L et al (2006) Incidence of BRCA1 and BRCA2 mutations in 54 Chilean families with breast/ovarian cancer, genotype-phenotype correlations. Breast Cancer Res Treat 95:81–87

    Article  CAS  PubMed  Google Scholar 

  27. Torres D, Rashid MU, Gil F et al (2007) High proportion of BRCA1/2 founder mutations in Hispanic breast/ovarian cancer families from Colombia. Breast Cancer Res Treat 103:225–232

    Article  CAS  PubMed  Google Scholar 

  28. Vogel KJ, Atchley DP, Erlichman J et al (2007) BRCA1 and BRCA2 genetic testing in Hispanic patients: mutation prevalence and evaluation of the BRCAPRO risk assessment model. J Clin Oncol 25:4635–4641

    Article  PubMed  Google Scholar 

  29. Jara L, Ampuero S, Santibanez E et al (2004) Molecular analysis of the eighteen most frequent mutations in the BRCA1 gene in 63 Chilean breast cancer families. Biol Res 37:469–481

    Article  CAS  PubMed  Google Scholar 

  30. Diez O, Osorio A, Duran M et al (2003) Analysis of BRCA1 and BRCA2 genes in Spanish breast/ovarian cancer patients: a high proportion of mutations unique to Spain and evidence of founder effects. Hum Mutat 22:301–312

    Article  CAS  PubMed  Google Scholar 

  31. de la Hoya M, Gutierrez-Enriquez S, Velasco E et al (2006) Genomic rearrangements at the BRCA1 locus in Spanish families with breast/ovarian cancer. Clin Chem 52:1480–1485

    Article  PubMed  Google Scholar 

  32. Blesa JR, Garcia JA, Ochoa E (2000) Frequency of germ-line BRCA1 mutations among Spanish families from a Mediterranean area. Hum Mutat 15:381–382

    Article  CAS  PubMed  Google Scholar 

  33. Campos B, Diez O, Domenech M et al (2001) BRCA2 mutation analysis of 87 Spanish breast/ovarian cancer families. Ann Oncol 12:1699–1703

    Article  CAS  PubMed  Google Scholar 

  34. Green ED, Olson MV (1990) Chromosomal region of the cystic fibrosis gene in yeast artificial chromosomes: a model for human genome mapping. Science 250:94–98

    Article  CAS  PubMed  Google Scholar 

  35. Hall MJ, Reid JE, Burbridge LA, Pruss D, Deffenbaugh AM et al (2009) BRCA1 and BRCA2 mutations in women of different ethnicities undergoing testing for hereditary breast -ovarian cancer. Cancer 115(10):2222–2233

    Article  PubMed Central  CAS  PubMed  Google Scholar 

  36. Olopade OI, Fackenthal JD, Dunston G, Tainsky MA, Collins F, Whitfield-Broome C (2003) Breast cancer genetics in African Americans. Cancer 97(1 Suppl):236–245

    Article  CAS  PubMed  Google Scholar 

  37. Donenberg T, Lunn J, Curling D et al (2011) A high prevalence of BRCA1 mutations among breast cancer patients from the Bahamas. Breast Cancer Res Treat 125:591–596

    Article  PubMed  Google Scholar 

  38. Breast Cancer Information Core (BIC). An open access online breast cancer mutation data base. 2010

  39. Vega A, Campos B, Bressac-De-Paillerets B et al (2001) The R71G BRCA1 is a founder Spanish mutation and leads to aberrant splicing of the transcript. Hum Mutat 17:520–521

    Article  CAS  PubMed  Google Scholar 

  40. Jara L, Ampuero S, Santibanez E et al (2006) BRCA1 and BRCA2 mutations in a South American population. Cancer Genet Cytogenet 166:36–45

    Article  CAS  PubMed  Google Scholar 

  41. Abugattas J, Llacuachaqui M, Allende YS et al (2014) Prevalence of BRCA1 and BRCA2 mutations in unselected breast cancer patients from Peru. Clin Genet. doi:10.1111/cge.12505

    PubMed  Google Scholar 

  42. Torres D, Umaña A, Robledo JF et al (2009) Estudio de factores genéticos para cáncer de mama en Colombia, Spanish. Univ Med Bogotá (Colombia) 50:297–301

    Google Scholar 

  43. Martinez ME ea. Family history of breast and ovarian cancer prevalence and its association with triple negative subtype in hispanic women. American Association for Cancer Research Science of Cancer Health Disparities Meeting; San Antonio, TX November 9–12, 2014

  44. Young SR, Pilarski RT, Donenberg T et al (2009) The prevalence of BRCA1 mutations among young women with triple-negative breast cancer. BMC Cancer 9:86

    Article  PubMed Central  CAS  PubMed  Google Scholar 

  45. Fostira F, Tsitlaidou M, Gogas H, et al (2010) Prevalence of BRCA1 mutations among 284 women with triple-negative breast cancer. ASCO Meeting Abstracts 28(15_suppl %U http://meeting.ascopubs.org/cgi/content/abstract/28/15_suppl/1511):1511

  46. Gonzalez-Angulo AM, Timms KM et al (2011) Incidence and outcome of BRCA mutations in unselected patients with triple receptor-negative breast cancer, February 22. Clin Cancer Res 17(5):1082–1089

    Article  PubMed Central  CAS  PubMed  Google Scholar 

  47. Couch FJ, Hart SN, Sharma 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 In press

  48. Byrski T, Huzarski T, Dent R et al (2014) Pathologic complete response to neoadjuvant cisplatin in BRCA1-positive breast cancer patients. Breast Cancer Res Treat 147:401–405

    Article  CAS  PubMed  Google Scholar 

  49. Huzarski T, Byrski T, Gronwald J et al (2013) Ten-year survival in patients with BRCA1-negative and BRCA1-positive breast cancer. J Clin Oncol 31:3191–3196

    Article  PubMed  Google Scholar 

  50. Metcalfe K, Gershman S, Ghadirian P et al (2014) Contralateral mastectomy and survival after breast cancer in carriers of BRCA1 and BRCA2 mutations: retrospective analysis. BMJ 348:g226

    Article  PubMed Central  PubMed  Google Scholar 

Download references

Acknowledgments

The project was supported in part by the Breast Cancer Research Foundation, Avon Foundation grant #02-2013-044, American Cancer Society grant #RSGT-00-263-01, and Award Number RC4A153828 from the National Cancer Institute (J. Weitzel).

Author information

Authors and Affiliations

Authors

Corresponding author

Correspondence to S. A. Narod.

Additional information

Villarreal-Garza C and Weitzel JN have authors contributed equally to this study.

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Villarreal-Garza, C., Weitzel, J.N., Llacuachaqui, M. et al. The prevalence of BRCA1 and BRCA2 mutations among young Mexican women with triple-negative breast cancer. Breast Cancer Res Treat 150, 389–394 (2015). https://doi.org/10.1007/s10549-015-3312-8

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s10549-015-3312-8

Keywords

Navigation