publication . Article . 2015

Reevaluation of the BRCA2 truncating allele c.9976A > T (p.Lys3326Ter) in a familial breast cancer context

Thompson, Ella R.; Gorringe, Kylie L.; Rowley, Simone M.; Li, Na; McInerny, Simone; Wong-Brown, Michelle W.; Devereux, Lisa; Li, Jason; Trainer, Alison H.; Mitchell, Gillian; ...
Open Access English
  • Published: 01 Oct 2015 Journal: Scientific Reports, volume 5 (issn: 2045-2322, eissn: 2045-2322, Copyright policy)
  • Publisher: Nature Publishing Group
Abstract
The breast cancer predisposition gene, BRCA2, has a large number of genetic variants of unknown effect. The variant rs11571833, an A > T transversion in the final exon of the gene that leads to the creation of a stop codon 93 amino acids early (K3326*), is reported as a neutral polymorphism but there is some evidence to suggest an association with an increased risk of breast cancer. We assessed whether this variant was enriched in a cohort of breast cancer cases ascertained through familial cancer clinics compared to population-based non-cancer controls using a targeted sequencing approach. We identified the variant in 66/2634 (2.5%) cases and 33/1996 (1.65%) co...
Subjects
mesheuropmc: skin and connective tissue diseases
free text keywords: Article
28 references, page 1 of 2

Tavtigian S. V.. The complete BRCA2 gene and mutations in chromosome 13q-linked kindreds. Nat Genet 12, 333–7 (1996).8589730 [PubMed]

Wooster R.. Identification of the breast cancer susceptibility gene BRCA2. Nature 378, 789–92 (1995).8524414 [PubMed]

Mavaddat N.. Cancer risks for BRCA1 and BRCA2 mutation carriers: results from prospective analysis of EMBRACE. J Natl Cancer Inst 105, 812–22 (2013).23628597 [PubMed]

Teng D. H.. Low incidence of BRCA2 mutations in breast carcinoma and other cancers. Nat Genet 13, 241–4 (1996).8640236 [PubMed]

Mazoyer S.. A polymorphic stop codon in BRCA2. Nat Genet 14, 253–4 (1996).8896551 [PubMed]

Wagner T. M.. Global sequence diversity of BRCA2: analysis of 71 breast cancer families and 95 control individuals of worldwide populations. Hum Mol Genet 8, 413–23 (1999).9971877 [PubMed]

Kuznetsov S. G., Liu P. & Sharan S. K. Mouse embryonic stem cell-based functional assay to evaluate mutations in BRCA2. Nat Med 14, 875–81 (2008).18607349 [OpenAIRE] [PubMed]

Wu K.. Functional evaluation and cancer risk assessment of BRCA2 unclassified variants. Cancer Res 65, 417–26 (2005).15695382 [PubMed]

Martin S. T.. Increased prevalence of the BRCA2 polymorphic stop codon K3326X among individuals with familial pancreatic cancer. Oncogene 24, 3652–6 (2005).15806175 [PubMed]

Johnson N.. Counting potentially functional variants in BRCA1, BRCA2 and ATM predicts breast cancer susceptibility. Hum Mol Genet 16, 1051–7 (2007).17341484 [PubMed]

Michailidou K.. Large-scale genotyping identifies 41 new loci associated with breast cancer risk. Nat Genet 45, 353-61, 361e1–2 (2013). [OpenAIRE]

Claes K.. Differentiating pathogenic mutations from polymorphic alterations in the splice sites of BRCA1 and BRCA2. Genes Chromosomes Cancer 37, 314–20 (2003).12759930 [PubMed]

Haraldsson K.. BRCA2 germ-line mutations are frequent in male breast cancer patients without a family history of the disease. Cancer Res 58, 1367–71 (1998).9537231 [PubMed]

Genomes Project C.. An integrated map of genetic variation from 1,092 human genomes. Nature 491, 56–65 (2012).23128226 [OpenAIRE] [PubMed]

Ahsan H.. A genome-wide association study of early-onset breast cancer identifies PFKM as a novel breast cancer gene and supports a common genetic spectrum for breast cancer at any age. Cancer Epidemiol Biomarkers Prev 23, 658–69 (2014).24493630 [OpenAIRE] [PubMed]

28 references, page 1 of 2
Abstract
The breast cancer predisposition gene, BRCA2, has a large number of genetic variants of unknown effect. The variant rs11571833, an A > T transversion in the final exon of the gene that leads to the creation of a stop codon 93 amino acids early (K3326*), is reported as a neutral polymorphism but there is some evidence to suggest an association with an increased risk of breast cancer. We assessed whether this variant was enriched in a cohort of breast cancer cases ascertained through familial cancer clinics compared to population-based non-cancer controls using a targeted sequencing approach. We identified the variant in 66/2634 (2.5%) cases and 33/1996 (1.65%) co...
Subjects
mesheuropmc: skin and connective tissue diseases
free text keywords: Article
28 references, page 1 of 2

Tavtigian S. V.. The complete BRCA2 gene and mutations in chromosome 13q-linked kindreds. Nat Genet 12, 333–7 (1996).8589730 [PubMed]

Wooster R.. Identification of the breast cancer susceptibility gene BRCA2. Nature 378, 789–92 (1995).8524414 [PubMed]

Mavaddat N.. Cancer risks for BRCA1 and BRCA2 mutation carriers: results from prospective analysis of EMBRACE. J Natl Cancer Inst 105, 812–22 (2013).23628597 [PubMed]

Teng D. H.. Low incidence of BRCA2 mutations in breast carcinoma and other cancers. Nat Genet 13, 241–4 (1996).8640236 [PubMed]

Mazoyer S.. A polymorphic stop codon in BRCA2. Nat Genet 14, 253–4 (1996).8896551 [PubMed]

Wagner T. M.. Global sequence diversity of BRCA2: analysis of 71 breast cancer families and 95 control individuals of worldwide populations. Hum Mol Genet 8, 413–23 (1999).9971877 [PubMed]

Kuznetsov S. G., Liu P. & Sharan S. K. Mouse embryonic stem cell-based functional assay to evaluate mutations in BRCA2. Nat Med 14, 875–81 (2008).18607349 [OpenAIRE] [PubMed]

Wu K.. Functional evaluation and cancer risk assessment of BRCA2 unclassified variants. Cancer Res 65, 417–26 (2005).15695382 [PubMed]

Martin S. T.. Increased prevalence of the BRCA2 polymorphic stop codon K3326X among individuals with familial pancreatic cancer. Oncogene 24, 3652–6 (2005).15806175 [PubMed]

Johnson N.. Counting potentially functional variants in BRCA1, BRCA2 and ATM predicts breast cancer susceptibility. Hum Mol Genet 16, 1051–7 (2007).17341484 [PubMed]

Michailidou K.. Large-scale genotyping identifies 41 new loci associated with breast cancer risk. Nat Genet 45, 353-61, 361e1–2 (2013). [OpenAIRE]

Claes K.. Differentiating pathogenic mutations from polymorphic alterations in the splice sites of BRCA1 and BRCA2. Genes Chromosomes Cancer 37, 314–20 (2003).12759930 [PubMed]

Haraldsson K.. BRCA2 germ-line mutations are frequent in male breast cancer patients without a family history of the disease. Cancer Res 58, 1367–71 (1998).9537231 [PubMed]

Genomes Project C.. An integrated map of genetic variation from 1,092 human genomes. Nature 491, 56–65 (2012).23128226 [OpenAIRE] [PubMed]

Ahsan H.. A genome-wide association study of early-onset breast cancer identifies PFKM as a novel breast cancer gene and supports a common genetic spectrum for breast cancer at any age. Cancer Epidemiol Biomarkers Prev 23, 658–69 (2014).24493630 [OpenAIRE] [PubMed]

28 references, page 1 of 2
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publication . Article . 2015

Reevaluation of the BRCA2 truncating allele c.9976A > T (p.Lys3326Ter) in a familial breast cancer context

Thompson, Ella R.; Gorringe, Kylie L.; Rowley, Simone M.; Li, Na; McInerny, Simone; Wong-Brown, Michelle W.; Devereux, Lisa; Li, Jason; Trainer, Alison H.; Mitchell, Gillian; ...