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A high frequency of PALB2 mutations in Jamaican patients with breast cancer

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

Abstract

Purpose

Jamaica is an island nation with one of the highest breast cancer incidence rates in the Caribbean (40/100,000 per year). The contribution of cancer susceptibility gene mutations to the burden of breast cancer in Jamaica has not yet been explored. We sought to determine the prevalence of germline mutations in BRCA1, BRCA2, and PALB2 in 179 unselected Jamaican women with breast cancer.

Methods

We sequenced the entire coding regions of BRCA1, BRCA2, and PALB2 for all the study subjects.

Results

Overall, 8 of 179 patients (4.5%) had a mutation in one of the three genes: one in BRCA1, two in BRCA2, and five in PALB2.

Conclusions

These data suggest that in addition to BRCA1 and BRCA2, PALB2 should be included in genetic testing for breast cancer patients in Jamaica.

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References

  1. Demographic & Social Statistics: Population. Statistical Institute of Jamaica. Jamaica, 2015. http://statinja.gov.jm/Demo_SocialStats/Newpopulation.aspx

  2. Chin SN, Green C, Strachan GG et al (2014) Clinicopathologic characteristics of breast cancer in Jamaica. Asian Pac J Cancer Prev 15(7):3319–3322

    Article  PubMed  Google Scholar 

  3. Jamaica Population Fact Sheet. World Health Organization International Agency for Research on Cancer: GLOBOCAN 2012: Estimated Cancer Incidence, Mortality and Prevalence Worldwide in 2012. France, 2012. Available from: http://globocan.iarc.fr/Pages/fact_sheets_population.aspx

  4. Gibson TN, Blake G, Hanchard B et al (2008) Age-specific incidence of cancer in Kingston and St Andrew, Jamaica, 1998–2002. West Indian Med J 57(2):81–89

    CAS  PubMed  Google Scholar 

  5. Latest world cancer statistics (2013) Global cancer burden rises to 14.1 million new cases in 2012: marked increase in breast cancers must be addressed. International Agency for Research on Cancer, France. https://www.iarc.fr/en/media-centre/pr/2013/pdfs/pr223_E.pdf

  6. Li H, Durbin R (2009) Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics 25:1754–1760

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  7. Picard (2014) http://picard.sourceforge.net. Accessed 15 Jan 2014

  8. McKenna A et al (2010) The genome analysis toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. Gen Res 20:1297–1303

    Article  CAS  Google Scholar 

  9. Donenberg T, Ahmed H, Royer R et al (2016) A survey of BRCA1, BRCA2, and PALB2 mutations in women with breast cancer in Trinidad and Tobago. Breast Cancer Res Treat. doi:10.1007/s10549-016-3870-4

    PubMed  Google Scholar 

  10. Akbari MR, Donenberg T, Lunn J et al (2013) The spectrum of BRCA1 and BRCA2 mutations in breast cancer patients in the Bahamas. Clin Genet. doi:10.1111/cge.12132

    PubMed  Google Scholar 

  11. Antoniou AC, Casade S, Heikkinen T et al (2014) Breast-cancer risk in families with mutations in PALB2. N Engl J Med 371(6):497–506. doi:10.1056/NEJMoa1400382

    Article  PubMed  PubMed Central  Google Scholar 

  12. Erkko H, Xia B, Nikkila J, Schleutker J et al (2007) A recurrent mutation in PALB2 in Finnish cancer families. Nature 446(7133):316–319

    Article  CAS  PubMed  Google Scholar 

  13. Tischkowitz M, Xia B (2010) PALB2/FANCN—recombining cancer and Fanconi anemia. Cancer Res 70(19):7353–7359. doi:10.1158/0008-5472

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  14. Casadei S, Norquist BM, Walsh T et al (2011) Contribution to familial breast cancer of inherited mutations in the BRCA2-interacting protein PALB2. Cancer Res 71(6):2222–2229

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  15. Jamaica (2010) Oxford African American Studies Center. Oxford. http://www.oxfordaasc.com/public/samples/sample_country.jsp

  16. Ding YC, Steele L, Chu LH, Kelley K, Davis H, John EM, Tomlinson GE, Neuhausen SL (2011) Germline mutations in PALB2 in African-American breast cancer cases. Breast Cancer Res Treat 126(1):227–230. doi:10.1007/s10549-010-1271-7

    Article  CAS  PubMed  Google Scholar 

  17. Zheng Y, Zhang J, Niu Q, Huo D, Olopade OI (2012) Novel Germline PALB2 truncating mutations in African American breast cancer patients. Cancer 118(5):1362–1370. doi:10.1002/cncr.26388

    Article  CAS  PubMed  Google Scholar 

  18. Wong-Brown MW, Avery-Kiejda KA, Bowden RA, Scott RJ (2014) Low prevalence of germline PALB2 mutations in Australian triple-negative breast cancer. Int J Cancer 134(2):301–305

    Article  PubMed  Google Scholar 

  19. Pern F et al (2012) Mutation analysis of BRCA1, BRCA2, PALB2 and BRD7 in a hospital-based series of German patients with triple-negative breast cancer. PLoS ONE 7(10):e47993

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  20. Lee AS, Ang P (2014) Breast-cancer risk in families with mutations in PALB2. N Engl J Med 371:1650–1651

    Article  PubMed  Google Scholar 

  21. Narod SA, Foulkes WD (2004) BRCA1 and BRCA2: 1994 and beyond. Nat Rev Cancer 4:665–676

    Article  CAS  PubMed  Google Scholar 

  22. Malone KE, Daling JR, Doody DR et al (2006) Prevalence and predictors of BRCA1 and BRCA2 mutations in a population based study of breast cancer in white and black American women ages 35 to 64 years. Cancer Res 66(16):8297–8308

    Article  CAS  PubMed  Google Scholar 

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

    Article  CAS  PubMed  Google Scholar 

  24. John E, Miron A, Gong G, Phipps AI, Felberg A, Li FP, West DW, Whittemore AS (2007) Prevalence of pathogenic BRCA1 mutation carriers in 5 racial/ethnic groups. JAMA 298:2869–2876

    Article  CAS  PubMed  Google Scholar 

  25. Breast Cancer Information Core (BIC) (2016) An open access online breast cancer mutation data base. http://www.nhgri.nih.gov/Intramural_research/Lab_transfer/BIC/

  26. Fostira F, Tsitlaidou M, Papadimitriou C et al (2012) Prevalence of BRCA1 mutations among 403 women with triple-negative breast cancer: implications for genetic screening selection criteria: a Hellenic Cooperative Oncology Group Study. Breast Cancer Res Treat 134(1):353–362

    Article  CAS  PubMed  Google Scholar 

  27. Gibson TN, Hanchard B, McNaughton D, Waugh N (2010) Age-specific incidence of cancer in Kingston and St. Andrew Jamaica 2003–2007. West Indian Med J 59(5):456

    CAS  PubMed  Google Scholar 

  28. Shirley SE, Sinclar PA, Stennett MA et al (2010) The pathology of breast cancer in Jamaica: the national public health laboratory study. West Indian Med J 59(2):177–181

    CAS  PubMed  Google Scholar 

  29. Gibson TN, Hanchard B, Waugh N et al (2010) Age-specific incidence of cancer in Kingston and St. Andrew, Jamaica, 2003–2007. West Indian Med J 59(5):456–464

    CAS  PubMed  Google Scholar 

  30. Development of a National Breast Cancer Screening Policy in Jamaica. SBFPHC Policy Advocacy 2015. https://sbfphc.wordpress.com/2015/08/14/development-of-a-national-breast-cancer-screening-policy-in-jamaica/

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Funding

This study was supported by Susan G Komen for the Cure, Komen Wyoming Affiliate KG11-0017(JH). Dr. Akbari is supported by Canadian Cancer Society Research Institute.

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Corresponding author

Correspondence to Mohammad R. Akbari.

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Conflict of interest

The authors declare that they have no conflict of interest.

Informed consent

Informed consent was obtained from all individual participants included in the study.

Ethical approval

All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards. This article does not contain any studies with animals performed by any of the authors.

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Lerner-Ellis, J., Donenberg, T., Ahmed, H. et al. A high frequency of PALB2 mutations in Jamaican patients with breast cancer. Breast Cancer Res Treat 162, 591–596 (2017). https://doi.org/10.1007/s10549-017-4148-1

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  • DOI: https://doi.org/10.1007/s10549-017-4148-1

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