Spectrum of mismatch repair gene mutations and clinical presentation of Hispanic individuals with Lynch syndrome

Annette Y. Sunga, Charité Ricker, Carin R. Espenschied, Danielle Castillo, Marilena Melas, Josef Herzog, Sarah Bannon, Marcia Cruz-Correa, Patrick Lynch, Ilana Solomon, Stephen B. Gruber, Jeffrey N. Weitzel

Research output: Contribution to journalArticle

2 Scopus citations

Abstract

Lynch syndrome (LS), the most common hereditary colorectal cancer syndrome, is caused by mismatch repair (MMR) gene mutations. However, data about MMR mutations in Hispanics are limited. This study aims to describe the spectrum of MMR mutations in Hispanics with LS and explore ancestral origins. This case series involved an IRB-approved retrospective chart review of self-identified Hispanic patients (n = 397) seen for genetic cancer risk assessment at four collaborating academic institutions in California, Texas, and Puerto Rico who were evaluated by MMR genotyping and/or tumor analysis. A literature review was conducted for all mutations identified. Of those who underwent clinical genetic testing (n = 176), 71 had MMR gene mutations. Nine mutations were observed more than once. One third (3/9) of recurrent mutations and two additional mutations (seen only once) were previously reported in Spain, confirming the influence of Spanish ancestry on MMR mutations in Hispanic populations. The recurrent mutations identified (n = 9) included both previously reported mutations as well as unique mutations not in the literature. This is the largest report of Hispanic MMR mutations in North America; however, a larger sample and haplotype analyses are needed to better understand recurrent MMR mutations in Hispanic populations.

Original languageEnglish (US)
Pages (from-to)1-7
Number of pages7
JournalCancer Genetics
Volume212-213
DOIs
StatePublished - Apr 2017

Keywords

  • Hispanics
  • Lynch syndrome
  • MLH1
  • MMR mutations
  • MSH2
  • MSH6
  • PMS2
  • colon cancer

ASJC Scopus subject areas

  • Molecular Biology
  • Genetics
  • Cancer Research

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    Sunga, A. Y., Ricker, C., Espenschied, C. R., Castillo, D., Melas, M., Herzog, J., Bannon, S., Cruz-Correa, M., Lynch, P., Solomon, I., Gruber, S. B., & Weitzel, J. N. (2017). Spectrum of mismatch repair gene mutations and clinical presentation of Hispanic individuals with Lynch syndrome. Cancer Genetics, 212-213, 1-7. https://doi.org/10.1016/j.cancergen.2017.01.003