Genetic alterations of the <i>ERCC4</i> gene in German and Byelorussian breast cancer patients.

<p>Survey of genetic alterations of the <i>ERCC4</i> gene identified in a sequencing study of 101 patients selected for familial breast cancer (n = 63, Set 1) or the p.R415Q haplotype (n = 38, Set 2). Mutations were designated according to the improved mutation nomenclature recommended by the Human Genome Variation Society [<a href="http://www.hgvs.org/mutnomen/" target="_blank">www.hgvs.org/mutnomen/</a>], using the Ensembl transcript ID ENST00000311895 and protein ID ENSP00000310520 for the ERCC4 coding sequence. Rs numbers refer to the NCBI SNP database [<a href="http://www.ncbi.nlm.nih.gov/sites/entrez" target="_blank">http://www.ncbi.nlm.nih.gov/sites/entrez</a>]. Het, heterozygous; hom, homozygous.</p>*<p>Percentage refers to the total series of 101 sequenced patients.</p

Association study of the <i>ERCC4</i> missense variant p.R415Q in three breast cancer case-control series.

<p>Results from an association study of the missense substitution p.R415Q in case-control series from Germany (HaBCS: 932 cases/983 controls), Belarus (HMBCS: 1,937 cases/1,229 controls) and Russia (HUBCS: 829 cases/656 controls). Minor allele frequency (MAF) in controls was 0.08 in HaBCS and 0.06 in HMBCS, and was 0.06 for each of both, Russians and Tatars in HUBCS but was lower in the Bashkir subpopulation (MAF 0.01). Per-allele odds ratios were calculated in comparison to the controls for all breast cancer patients and for specific subgroups after stratification by ductal histology, 1° degree family history of breast cancer, tumour grade (high grade defined as >2) and – where available - estrogen receptor status and nodal status. P_trend values were calculated under an additive model using Armitage trend tests. For the total, Mantel-Haenszel Odds Ratio and p-value were obtained from a combined analysis with stratification by study population.</p>*<p>p<0.05;</p>**<p>p-value for ductal histology remained significant after Bonferroni correction.</p

Identification of a novel missense mutation in the <i>ERCC4</i> gene.

<p>Identification of the missense mutation p.E17V (c.50A>T) in the <i>ERCC4</i> gene by direct sequencing (reverse strand). Left panel: wildtype, right panel: heterozygous carrier of p.E17V.</p

Association between SNP rs2180341 and breast cancer risk by estrogen receptor (ER) status among cases and controls of European ancestry, Breast Cancer Association Consortium (BCAC).

<p>Association between SNP rs2180341 and breast cancer risk by estrogen receptor (ER) status among cases and controls of European ancestry, Breast Cancer Association Consortium (BCAC).</p

Adjusted¹, weighted hazard ratios (HRs) and 95% confidence intervals (CIs) for the association between SNP rs2180341 genotype and breast cancer risk, in the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA).²

1<p>Adjusted for birth year and study.</p>2<p>Restricted to women of European descent.</p>3<p>MAF = Minor allele frequency.</p

Study-adjusted association between SNP rs2180341 and breast cancer risk by age among cases and controls of European ancestry, Breast Cancer Association Consortium (BCAC).

<p>Study-adjusted association between SNP rs2180341 and breast cancer risk by age among cases and controls of European ancestry, Breast Cancer Association Consortium (BCAC).</p

SNP rs2180341 per-allele hazard ratios (HRs) and 95% confidence intervals (CIs) among Consortium of Investigators of Modifiers of <i>BRCA1/2</i> (CIMBA) in A. <i>BRCA1</i> mutation carriers B. <i>BRCA2</i> mutation carriers.

<p>Studies are weighted and ranked according to the inverse of the between-study and within study variation of the log odds ratio, which is also represented by the size of the shaded box around the study-specific point estimate. The solid line indicates the OR = 1 and the dashed lined indicates the summary OR of all studies. A description of the study acronyms can be found in <a href="http://www.plosone.org/article/info:doi/10.1371/journal.pone.0035706#pone.0035706.s001" target="_blank">Supporting Information S1</a>.</p

Forest plot of SNP rs2180341 per-allele odds ratios (ORs) and 95% confidence intervals (CIs) with the risk of breast cancer among studies from Breast Cancer Association Consortium (BCAC) breast cancer cases and controls of European ancestry.

<p>Studies are weighted and ranked according to the inverse of the between-study and within study variation of the log odds ratio, which is also represented by the size of the shaded box around the study-specific point estimate. The solid line indicates the OR = 1 and the dashed lined indicates the summary OR of all studies. A description of the study acronyms can be found in the <a href="http://www.plosone.org/article/info:doi/10.1371/journal.pone.0035706#pone.0035706.s001" target="_blank">Supporting Information S1</a>.</p

Association of rs2046210 and rs12662670 with breast cancer.

<p>Results are presented overall and separately for Europeans and Asians. Pooled analyses adjusted for study only as well as adjusted for rs12662670 or rs2046210, respectively, in addition to study were performed.</p>a<p>P-value derived from the log-additive model.</p>b<p>Odds ratio per minor allele (A allele for rs2046210, G allele for rs12662670).</p>c<p>Odds ratio relative to the major allele homozygous (GT) genotype.</p

Association of rs12662670 with breast cancer in European ER

<p>−<b>*versus ER+**cases and controls.</b> *Estrogen receptor negative; **Estrogen receptor positive.</p