BRCA1 and BRCA2 gene variants and nonsyndromic cleft lip/palate

Nicholas Rodriguez, Lorena Maili, Brett T. Chiquet, Susan H. Blanton, Jacqueline T. Hecht, Ariadne Letra

Research output: Contribution to journalArticlepeer-review

6 Scopus citations


Background: Nonsyndromic cleft lip with or without cleft palate (NSCL/P) is a debilitating condition that not only affects the individual, but the entire family. The purpose of this study was to investigate the association of BRCA1 and BRCA2 genes with NSCL/P. Methods: Twelve polymorphisms in/nearby BRCA1 and BRCA2 were genotyped using Taqman chemistry. Our data set consisted of 3,473 individuals including 2,191 nonHispanic white (NHW) individuals (from 151 multiplex and 348 simplex families) and 1,282 Hispanic individuals (from 92 multiplex and 216 simplex families). Data analysis was performed using Family-Based Association Test (FBAT), stratified by ethnicity and family history of NSCL/P. Results: Nominal associations were found between NSCL/P and BRCA1 in Hispanics and BRCA2 in NHW and Hispanics (p <.05). Significant haplotype associations were found between NSCL/P and both BRCA1 and BRCA2 (p ≤.004). Conclusions: Our results suggest a modest association between BRCA1 and BRCA2 and NSCL/P. Further studies in additional populations and functional studies are needed to elucidate the role of these genes in developmental processes and signaling pathways contributing to NSCL/P.

Original languageEnglish (US)
Pages (from-to)1043-1048
Number of pages6
JournalBirth Defects Research
Issue number12
StatePublished - Jul 17 2018


  • Association
  • BRCA1
  • BRCA2
  • Cleft lip/palate

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Embryology
  • Toxicology
  • Developmental Biology
  • Health, Toxicology and Mutagenesis


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