Genetics Research
rs13387042
Population Frequencies12
African
A 0.72953G 0.27047AA 0.533327AG/GA 0.392406GG 0.074267pop=65,682
African American
A 0.72727G 0.27273AA 0.529605AG/GA 0.395328GG 0.075068pop=63,436
African Others
A 0.7934G 0.2066AA 0.638468AG/GA 0.309884GG 0.051647pop=2,246
Asian
A 0.1163G 0.8837AA 0.014856AG/GA 0.202889GG 0.782256pop=14,540
East Asian
A 0.10871G 0.89129AA 0.011405AG/GA 0.194605GG 0.79399pop=11,048
European
A 0.520708G 0.479292AA 0.271661AG/GA 0.498093GG 0.230245pop=606,822
Latin American 1
A 0.5516G 0.4484AA 0.300985AG/GA 0.501153GG 0.197862pop=9,542
Latin American 2
A 0.34534G 0.65466AA 0.123189AG/GA 0.444302GG 0.432509pop=15,602
Other
A 0.47006G 0.52994AA 0.238861AG/GA 0.462401GG 0.298737pop=31,198
Other Asian
A 0.1403G 0.8597AA 0.025773AG/GA 0.229095GG 0.745132pop=3,492
South Asian
A 0.5497G 0.4502AA 0.30325AG/GA 0.493GG 0.20375pop=8,000
Studies35
Unread Studies35 ▼
1
An epidemiological association between breast cancer (BC) and thyroid cancer (TC) has been found in several observational studies, but whether they share common genetic factors remain unknown. Our research aimed to investigate the shared genetic architecture and potential causal link between BC, including estrogen receptor-positive (ER+) and estrogen receptor-negative (ER-) subtypes, and TC. Using genome-wide association study (GWAS) summary statistics, we examined the genetic correlation of BC…
2
The association of FGFR2-rs13387042 polymorphism with breast cancer (BC) susceptibility in women remains inconclusive due to varying reports. In this study, we conducted a meta-analysis to explore the relationship between FGFR2-rs13387042 polymorphism and susceptibility to BC. Relevant literature were acquired through searches across multiple databases. Odds ratio (OR) values were pooled to assess the risk of BC for different alleles and genotypes. The heterogeneity among the included literature…
3
Breast Cancer is the most frequent neoplasm diagnosed among women worldwide. Genetic background and lifestyle/environment play a significant role in the disease etiology. According to Genome-wide association studies, some single-nucleotide polymorphisms such as 2q35-rs13387042-(G/A) have been introduced to be associated with breast cancer risk and features. In this study, we aimed to evaluate the association between this variant and the risk of breast cancer in a cohort of Iranian women. Demogra…
4
Breast cancer is one of the most common malignancies and a leading cause of cancer-related death in women worldwide. Both hormone-related factors and genetic aberrations could cause breast cancer. We investigated copy number alternations (CNAs) on four breast cancer-susceptible loci, namely 2q35-rs13387042, 3p24-rs4973768, 17q23-rs6504950, and fibroblast growth factor receptor 2 (FGFR2)-rs2981578, in Taiwanese women. Breast cancer tissues and blood samples from 66 patients and their clinical dat…
5
Previous gene-environment interaction studies of breast cancer risk have provided sparse evidence of interactions. Using the largest available dataset to date, we performed a comprehensive assessment of potential effect modification of 205 common susceptibility variants by 13 established breast cancer risk factors, including replication of previously reported interactions. Analyses were performed using 28 176 cases and 32 209 controls genotyped with iCOGS array and 44 109 cases an…
6
Genome-wide-association studies (GWAS) have identified numerous single nucleotide polymorphisms (SNPs) that are associated with an increased risk of breast cancer. Most of these studies were conducted primarily in postmenopausal breast cancer patients. Therefore, we set out to assess whether or not these breast cancer variants are also associated with an elevated risk of breast cancer in young premenopausal patients. In 451 women of European ancestry who had prospectively enrolled in a longitudi…
7
Background: Since 2013, the incidence rate of breast cancer has remained as the first rank among female cancers worldwide. Breast cancer is a heterogeneous disease that has different environmental and genetic risk factors. In recent years, advances in molecular techniques resulted in the inaccurate characterization of molecular markers and therefore improvement of diagnostic and treatment methods. GWA studies play a key role in determining low-penetrance variants that influence the susceptibilit…
8
Large-scale genotyping studies have identified over 70 single nucleotide polymorphisms (SNPs) associated with breast cancer (BC) risk. However, knowledge regarding genetic risk factors associated with the prognosis is limited. The aim of this study was therefore to investigate the prognostic effect of nine known breast cancer risk SNPs. BC patients (n = 1687) randomly sampled in an adjuvant, randomized phase III trial (SUCCESS A study) were genotyped for nine BC risk SNPs: rs174682…
9
To evaluate the effect of fibroblast growth factor receptor.2. (FGFR2) on genetic susceptibility for breast cancer. (BC) in Chinese populations. A computerized literature search was carried out in PubMed, Chinese Biomedical Database. (CBM), and Chinese National Knowledge Infrastructure. (CNKI) to collect relevant articles. Pooled odds ratio. (OR) and 95% confidence interval. (CI) were used to assess the strength of the associations. A total of 21 articles involving a total of 15 polymorphisms of…
10
Breast cancer is the most diagnosed malignancy and the second leading cause of cancer mortality in females. Previous association studies have identified variants on 2q35 associated with the risk of breast cancer. To identify functional susceptibility loci for breast cancer, we interrogated the 2q35 gene desert for chromatin architecture and functional variation correlated with gene expression. We report a novel intergenic breast cancer risk locus containing an enhancer copy number variation (enC…
11
Current understanding of cancer genomes is mainly "gene centric." However, GWAS have identified some nongenic breast cancer susceptibility loci. Validation studies showed inconsistent results among different populations. To further explore this inconsistency and to investigate associations by intrinsic subtype (Luminal-A, Luminal-B, ER-&PR-&HER2+, and triple negative) among Southern Han Chinese women, we genotyped five nongenic polymorphisms (2q35: rs13387042, 5p12: rs981782 and rs441508…
12
Most genetic variants associated with breast cancer risk have been discovered in women of European ancestry, and only a few genome-wide association studies (GWAS) have been conducted in minority groups. This research disparity persists in post-GWAS gene-environment interaction analyses. We tested the interaction between hormonal and lifestyle risk factors for breast cancer, and ten GWAS-identified SNPs among 2,107 Hispanic women with breast cancer and 2,587 unaffected controls, to gain insight i…
13
Common genetic variants have been shown to modify BRCA1 penetrance. The aim of this study was to validate these reports in a special cohort of Norwegian BRCA1 mutation carriers that were selected for their extreme age of onset of disease. The ten variants rs13387042, rs3803662, rs8170, rs9397435, rs700518, rs10046, rs3834129, rs1045485, rs2363956 and rs16942 were selected to be tested on samples from our biobank. We selected female BRCA1 mutation carriers having had a diagnosis of breast or ovar…
14
Genome-wide association studies (GWAS) have identified 2q35 and 16q12 as breast cancer (BC) susceptibility loci. However, the association between the two polymorphisms and BC remains controversial and inconsistent. We therefore performed a more precise estimation of these relationships by meta-analysing the currently available evidence from the literature. The PubMed, Ovid, Medline and Web of Science databases were searched. Crude odds ratios (ORs) with 95% confidence intervals (CIs) were u…
15
Genome-wide association studies have discovered multiple genetic loci associated with breast cancer risk. Investigating these loci would be helpful to evaluate previous findings and identify causal variants for breast cancer. We evaluated index SNPs in 17 of these loci in a study of 1,511 cases and 1,454 controls of European descent. We investigated the overall association with breast cancer and among subtypes defined as ER+ (estrogen receptor positive), ER- (estrogen receptor negative) and trip…
16
Abstract C80: The interaction between menopausal hormone replacement therapy and the 2q35 (rs13387042) breast cancer risk variant explains the effect modification by genetic ancestry among Hispanic women
17
Recent Genome-Wide Association Studies have identified several single nucleotide polymorphisms (SNPs) associated with breast cancer (BC) among women of Asian, European, and African-American ancestry. Nevertheless, the contribution of these variants in the South American population is unknown. Furthermore, there is little information about the effect of these risk alleles in women with early BC diagnosis. In the present study, we evaluated the association between rs3803662 (TOX3, also known as TN…
18
Estudio de asociación entre los alelos de baja penetrancia rs3803662 (TOX3), rs13387042 (2q35) y rs13281615 (8q24) y aumento del riesgo para cáncer de mama, en población chilena
19
We evaluated whether 13 single nucleotide polymorphisms (SNPs) identified in genome-wide association studies interact with one another and with reproductive and menstrual risk factors in association with breast cancer risk. DNA samples and information on parity, breastfeeding, age at menarche, age at first birth, and age at menopause were collected through structured interviews from 1,484 breast cancer cases and 1,307 controls who participated in a population-based case-control study conducted i…
20
Genome-wide association studies (GWAS), conducted mostly in European or Asian descendants, have identified approximately 67 genetic susceptibility loci for breast cancer. Given the large differences in genetic architecture between the African-ancestry genome and genomes of Asians and Europeans, it is important to investigate these loci in African-ancestry populations. We evaluated index SNPs in all 67 breast cancer susceptibility loci identified to date in our study including up to 3,300 African…
21
Up to date, few published studies indicated the associations between genetic polymorphisms and epidural local anesthetics consumption. In this study, we investigated the associations between seven single-nucleotide polymorphisms (SNPs) and epidural ropivacaine consumption during breast cancer surgery in women from northeastern China. These seven SNPs (rs3803662 and rs12443621 in TNCR9, rs889312 in MAP3K1, rs3817198 in LSP1, rs13387042 at 2q35, rs13281615 at 8q24, and rs2046210 at 6q25.1) were id…
22
Genome-wide association studies have identified 2q35-rs13387042 as a new breast cancer (BC) susceptibility locus in populations of European descent. Since then, the relationship between 2q35-rs13387042 and breast cancer has been reported in various ethnic groups; however, these studies have yielded inconsistent results. To investigate this inconsistency, we performed a meta-analysis of 26 studies involving a total of 101,529 cases and 167,363 controls for 2q35-rs13387042 polymorphism to evaluate…
23
The association between rs13387042 polymorphism on 2q35 and breast cancer (BC) has been widely evaluated since it was first identified through genome-wide association approach. However, the results have been inconclusive. To investigate this inconsistency, we performed a meta-analysis of all available studies dealing with the relationship between the 2q35-rs13387042 polymorphism and BC. Databases including MEDLINE, PubMed, EMBASE, ISI web of science and CNKI (China National Knowledge Infrastruct…
24
The role of genetic breast cancer susceptibility variants as prognostic factors.
25
Genome-wide Association Studies (GWAS) revealed novel genetic markers for breast cancer susceptibility. But little is known about the risk factors and molecular events associated with breast cancer in Arab Population. Therefore, we designed a broad study to investigate the susceptibility and prognostic implications of the GWAS breast cancer loci in the Tunisian population. In a cohort of 640 unrelated patients with breast cancer and 371 healthy control subjects, we characterized the variation of…
26
Male breast cancer accounts for approximately 1% of all breast cancer. To date, risk factors for male breast cancer are poorly defined, but certain risk factors and genetic features appear common to both male and female breast cancer. Genome-wide association studies (GWAS) have recently identified common single nucleotide polymorphisms (SNPs) that influence female breast cancer risk; 12 of these have been independently replicated. To examine if these variants contribute to male breast cancer ris…
27
Low penetrance breast cancer susceptibility loci are associated with specific breast tumor subtypes: findings from the Breast Cancer Association Consortium.
28
Interactions between genetic variants and breast cancer risk factors in the breast and prostate cancer cohort consortium.
29
Summary Background Information is scarce about the combined effects on breast cancer incidence of low-penetrance genetic susceptibility polymorphisms and environmental factors (reproductive, behavioural, and anthropometric risk factors for breast cancer). To test for evidence of gene–environment interactions, we compared genotypic relative risks for breast cancer across the other risk factors in a large UK prospective study. Methods We tested gene–environment interactions in 7610 women who devel…
30
IntroductionSeveral common breast cancer genetic susceptibility variants have recently been identified. We aimed to determine how these variants combine with a subset of other known risk factors to influence breast cancer risk in white women of European ancestry using case-control studies participating in the Breast Cancer Association Consortium.MethodsWe evaluated two-way interactions between each of age at menarche, ever having had a live birth, number of live births, age at first birth and bo…
31
Common variants in LSP1, 2q35 and 8q24 and breast cancer risk for BRCA1 and BRCA2 mutation carriers.
Common variants in LSP1, 2q35 and 8q24 and breast cancer risk for BRCA1 and BRCA2 mutation carriers.
32
Recent genome-wide association studies (GWAS) have identified multiple common genetic risk variants for breast cancer among women of Asian and European ancestry. Investigating these genetic susceptibility loci in other populations would be helpful to evaluate the generalizability of the findings and identify the causal variants for breast cancer. We evaluated 11 GWAS-identified genetic susceptibility loci for breast cancer in a study including 2,594 African-American women (810 cases and 1,784 co…
33
Risk of estrogen receptor-positive and -negative breast cancer and single-nucleotide polymorphism 2q35-rs13387042.
34
Nucleotide Polymorphism 2q35-rs13387042
35
Common variants on chromosomes 2q35 and 16q12 confer susceptibility to estrogen receptor–positive breast cancer
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