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BRCA1 and BRCA2 gene variants and nonsyndromic cleft lip/palate.


ABSTRACT: 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?

SUBMITTER: Rodriguez N 

PROVIDER: S-EPMC6105370 | biostudies-literature | 2018 Jul

REPOSITORIES: biostudies-literature

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BRCA1 and BRCA2 gene variants and nonsyndromic cleft lip/palate.

Rodriguez Nicholas N   Maili Lorena L   Chiquet Brett T BT   Blanton Susan H SH   Hecht Jacqueline T JT   Letra Ariadne A  

Birth defects research 20180619 12


<h4>Background</h4>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.<h4>Methods</h4>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  ...[more]

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