No evidence of <it>BRCA2 </it>mutations in chromosome 13q-linked Utah high-risk prostate cancer pedigrees

<p>Abstract</p> <p>Background</p> <p>Germline mutations in the <it>BRCA2 </it>gene have been suggested to account for about 5% of familial prostate cancer; mutations have been reported in 2% of early onset (i.e., ≤ 55 years) prostate cancer cases and a segre...

Full description

Bibliographic Details
Main Authors: Allen-Brady Kristina, Farnham James M, Camp Nicola J, Karlins Eric, Ostrander Elaine A, Cannon-Albright Lisa A
Format: Article
Language:English
Published: BMC 2009-05-01
Series:BMC Research Notes
Online Access:http://www.biomedcentral.com/1756-0500/2/94
id doaj-896880b0a1714c1c8bc659c52c1c73fd
record_format Article
spelling doaj-896880b0a1714c1c8bc659c52c1c73fd2020-11-25T01:17:51ZengBMCBMC Research Notes1756-05002009-05-01219410.1186/1756-0500-2-94No evidence of <it>BRCA2 </it>mutations in chromosome 13q-linked Utah high-risk prostate cancer pedigreesAllen-Brady KristinaFarnham James MCamp Nicola JKarlins EricOstrander Elaine ACannon-Albright Lisa A<p>Abstract</p> <p>Background</p> <p>Germline mutations in the <it>BRCA2 </it>gene have been suggested to account for about 5% of familial prostate cancer; mutations have been reported in 2% of early onset (i.e., ≤ 55 years) prostate cancer cases and a segregating founder mutation has been identified in Iceland (999del5). However, the role of <it>BRCA2 </it>in high risk prostate cancer pedigrees remains unclear.</p> <p>Findings</p> <p>We examined the potential involvement of <it>BRCA2 </it>in a set offive high-risk prostate cancer pedigrees in which all prostate cases were no more distantly related than two meioses from another case, and the resulting cluster contained at least four prostate cancer cases. We selected these five pedigrees from a larger dataset of 59 high-risk prostate cancer pedigrees analyzed in a genome-wide linkage screen. Selected pedigrees showed at least nominal linkage evidence to the <it>BRCA2 </it>region on chromosome 13q. We mutation screened all coding regions and intron/exon boundaries of the <it>BRCA2 </it>gene in the youngest prostate cancer case who carried the linked 13q segregating haplotype, as well as in a distantly related haplotype carrier to confirm any segregation. We observed no known protein truncating <it>BRCA2 </it>deleterious mutations. We identified one non-segregating <it>BRCA2 </it>variant of uncertain significance, one non-segregating intronic variant not previously reported, and a number of polymorphisms.</p> <p>Conclusion</p> <p>In this set of high-risk prostate cancer pedigrees with at least nominal linkage evidence to <it>BRCA2</it>, we saw no evidence for segregating <it>BRCA2 </it>protein truncating mutations in heritable prostate cancer.</p> http://www.biomedcentral.com/1756-0500/2/94
collection DOAJ
language English
format Article
sources DOAJ
author Allen-Brady Kristina
Farnham James M
Camp Nicola J
Karlins Eric
Ostrander Elaine A
Cannon-Albright Lisa A
spellingShingle Allen-Brady Kristina
Farnham James M
Camp Nicola J
Karlins Eric
Ostrander Elaine A
Cannon-Albright Lisa A
No evidence of <it>BRCA2 </it>mutations in chromosome 13q-linked Utah high-risk prostate cancer pedigrees
BMC Research Notes
author_facet Allen-Brady Kristina
Farnham James M
Camp Nicola J
Karlins Eric
Ostrander Elaine A
Cannon-Albright Lisa A
author_sort Allen-Brady Kristina
title No evidence of <it>BRCA2 </it>mutations in chromosome 13q-linked Utah high-risk prostate cancer pedigrees
title_short No evidence of <it>BRCA2 </it>mutations in chromosome 13q-linked Utah high-risk prostate cancer pedigrees
title_full No evidence of <it>BRCA2 </it>mutations in chromosome 13q-linked Utah high-risk prostate cancer pedigrees
title_fullStr No evidence of <it>BRCA2 </it>mutations in chromosome 13q-linked Utah high-risk prostate cancer pedigrees
title_full_unstemmed No evidence of <it>BRCA2 </it>mutations in chromosome 13q-linked Utah high-risk prostate cancer pedigrees
title_sort no evidence of <it>brca2 </it>mutations in chromosome 13q-linked utah high-risk prostate cancer pedigrees
publisher BMC
series BMC Research Notes
issn 1756-0500
publishDate 2009-05-01
description <p>Abstract</p> <p>Background</p> <p>Germline mutations in the <it>BRCA2 </it>gene have been suggested to account for about 5% of familial prostate cancer; mutations have been reported in 2% of early onset (i.e., ≤ 55 years) prostate cancer cases and a segregating founder mutation has been identified in Iceland (999del5). However, the role of <it>BRCA2 </it>in high risk prostate cancer pedigrees remains unclear.</p> <p>Findings</p> <p>We examined the potential involvement of <it>BRCA2 </it>in a set offive high-risk prostate cancer pedigrees in which all prostate cases were no more distantly related than two meioses from another case, and the resulting cluster contained at least four prostate cancer cases. We selected these five pedigrees from a larger dataset of 59 high-risk prostate cancer pedigrees analyzed in a genome-wide linkage screen. Selected pedigrees showed at least nominal linkage evidence to the <it>BRCA2 </it>region on chromosome 13q. We mutation screened all coding regions and intron/exon boundaries of the <it>BRCA2 </it>gene in the youngest prostate cancer case who carried the linked 13q segregating haplotype, as well as in a distantly related haplotype carrier to confirm any segregation. We observed no known protein truncating <it>BRCA2 </it>deleterious mutations. We identified one non-segregating <it>BRCA2 </it>variant of uncertain significance, one non-segregating intronic variant not previously reported, and a number of polymorphisms.</p> <p>Conclusion</p> <p>In this set of high-risk prostate cancer pedigrees with at least nominal linkage evidence to <it>BRCA2</it>, we saw no evidence for segregating <it>BRCA2 </it>protein truncating mutations in heritable prostate cancer.</p>
url http://www.biomedcentral.com/1756-0500/2/94
work_keys_str_mv AT allenbradykristina noevidenceofitbrca2itmutationsinchromosome13qlinkedutahhighriskprostatecancerpedigrees
AT farnhamjamesm noevidenceofitbrca2itmutationsinchromosome13qlinkedutahhighriskprostatecancerpedigrees
AT campnicolaj noevidenceofitbrca2itmutationsinchromosome13qlinkedutahhighriskprostatecancerpedigrees
AT karlinseric noevidenceofitbrca2itmutationsinchromosome13qlinkedutahhighriskprostatecancerpedigrees
AT ostranderelainea noevidenceofitbrca2itmutationsinchromosome13qlinkedutahhighriskprostatecancerpedigrees
AT cannonalbrightlisaa noevidenceofitbrca2itmutationsinchromosome13qlinkedutahhighriskprostatecancerpedigrees
_version_ 1725145420167905280