Genetics Research
rs13393577
Population Frequencies12
African
T 0.86724C 0.13276TT 0.752364TC/CT 0.229762CC 0.017875pop=40,616
African American
T 0.86717C 0.13283TT 0.752187TC/CT 0.229963CC 0.017851pop=39,102
African Others
T 0.8692C 0.1308TT 0.756935TC/CT 0.224571CC 0.018494pop=1,514
Asian
T 0.94413C 0.05587TT 0.891296TC/CT 0.105663CC 0.003041pop=10,524
East Asian
T 0.9437C 0.0563TT 0.890918TC/CT 0.105525CC 0.003557pop=8,434
European
T 0.911249C 0.088751TT 0.830559TC/CT 0.16138CC 0.008061pop=420,064
Latin American 1
T 0.8894C 0.1106TT 0.789222TC/CT 0.200348CC 0.01043pop=4,602
Latin American 2
T 0.8981C 0.1019TT 0.808415TC/CT 0.179376CC 0.012209pop=10,648
Other
T 0.90198C 0.09802TT 0.812762TC/CT 0.178431CC 0.008806pop=14,762
Other Asian
T 0.9459C 0.0541TT 0.892823TC/CT 0.10622CC 0.000957pop=2,090
South Asian
T 0.8692C 0.1308TT 0.756253TC/CT 0.225881CC 0.017866pop=7,836
Studies28
Unread Studies28 ▼
1
… They not only confirmed previously identified loci in Europeans or Chinese populations or both but also found rs13393577 at 2q34/ERBB4 as a new breast cancer susceptibility variant …
2
… The tetra-ARMS-PCR method was used to study rs13393577 polymorphism. Finally, … Conclusions: The results of the present study showed that rs13393577 polymorphism in the EGFR …
3
The epidermal growth factor receptor family consists of four members, ErbB1 (epidermal growth factor receptor-1), ErbB2, ErbB3, and ErbB4, which all have been found to …
4
Recent advances in high-throughput genotyping and the recent surge of next generation sequencing of the cancer genomes have enabled discovery of germline mutations associated …
5
Powered by rapid technology developments, biomarkers become increasingly diverse, including those detected at genomic, transcriptomic, proteomic, metabolomic and cellular levels. …
6
Genome-wide association studies (GWAS) of cancer have identified more than 700 risk loci, of which approximately 80% were first discovered in European ancestry populations, …
7
The decrease in sperm motility has a potent influence on fertilisation. Sperm motility, represented as the percentage of motile sperm in ejaculated sperms, is influenced by …
8
Ductal carcinoma in situ (DCIS) and lobular carcinoma in situ (LCIS) are clinically undetectable forms of non-invasive breast cancer. DCIS is considered a non-obligate precursor of invasive ductal carcinoma (IDC). LCIS shares many of the same genetic aberrations as invasive lobular breast cancer (ILC), which accounts for 10-15% of all invasive breast cancer. With the advent of screening mammography, the diagnosis of pure DCIS (with no invasive component) and...
9
Somatic mutations in the ERBB genes (epidermal growth factor receptor: EGFR, ERBB2, ERBB3, ERBB4) promote oncogenesis and lapatinib resistance in metastatic HER2+ (human epidermal growth factor-like receptor 2) breast cancer in vitro. Our study aimed to determine the frequency of mutations in four genes: EGFR, ERBB2, ERBB3 and ERBB4 and to investigate whether these mutations affect cellular behaviour and therapy response in vitro and outcomes after adjuvant trastuzumab-based therapy in clinical samples. Methods: We performed Agena MassArray analysis of 227 HER2+ breast cancer samples to identify the type and frequency of ERBB family mutations. Of these, two mutations, the somatic mutations ERBB4-V721I and ERBB4-S303F, were stably transfected into HCC1954 (PIK3CA mutant), HCC1569 (PIK3CA wildtype) and BT474 (PIK3CA mutant, ER positive) HER2+ breast cancer cell lines for functional in vitro experiments. Results: A total of 12 somatic, likely deleterious mutations in the kinase and furin-like domains of the ERBB genes (3 EGFR, 1 ERBB2, 3 ERBB3, 5 ERBB4) were identified in 7% of HER2+ breast cancers, with ERBB4 the most frequently mutated gene. The ERBB4-V721I kinase domain mutation significantly increased 3D-colony formation in 3/3 cell lines, whereas ERBB4-S303F did not increase growth rate or 3D colony formation in vitro. ERBB4-V721I sensitized HCC1569 cells (PIK3CA wildtype) to the pan class I PI3K inhibitor copanlisib but increased resistance to the pan-HER family inhibitor afatinib. The combinations of copanlisib with trastuzumab, lapatinib, or afatinib remained synergistic regardless of ERBB4-V721I or ERBB4-S303F mutation status. Conclusions: ERBB gene family mutations, which are present in 7% of our HER2+ breast cancer cohort, may have the potential to alter cellular behaviour and the efficacy of HER- and PI3K-inhibition.
10
The prostate is a gland that surrounds men's urethra and helps to produce semen. In developed countries, prostate cancer (PCa.) is the second most common and lethal disease in men. Hereditary history of PCa. is a major contributor to this cancer? While a number of genetic and molecular changes have been reported in PCa, the general picture of the genetic aberrations is needed in Iranian population.Methods: In this study, a literature search from Jan. 2000 to June 2018 was performed through the PubMed, Google Scholar, Scopus, Web of Science, IranMedex, MEDLIB, IranDoc and Scientific Information databases using the keywords “genetic polymorphisms”, “prostate cancer”, “Iranian, and compare with regional and international population”.Results: The results revealed that several genome-wide association studies (such as rs2070744 and rs1799983 in the eNOS, rs243865 in the MMP2, rs1902023 in the UGT2B15, rs266882 in the PSA, rs10625775443 in the GNB3, rs 1800682 in the FAS, rs12052398 and rs13393577 in the ERBB4, rs181133 in the MTHFR, rs 1805087 in the MTR, rs1805355 in the MSH3, (rs60271534 in the CYP19, rs2234693 and rs9340799 in the ER-a, rs4986938 and rs1256049 in the ER-b) and single-nucleotide polymorphisms in important pathways (such as angiogenesis, androgen receptor binding site, cell signaling, folate metabolism, DNA repair, hormone synthesis and metabolism polymorphisms ) involved in prostate cancer occurrence and mechanism could serve as candidate biomarkers for the detection of PCa. The most important results of the all studied articles is summarized in Table 1 and 2.Conclusion: Several studies have been conducted on the family history of PCa. The main reason for this gathering is to inherit the involved genes. Additional studies are required to decipher precisely the gene combinations and personalize the management of prostate cancer. This article is the first comprehensive overview of genetic investigations of gene polymorphisms on PCa. in Iran.
11
Multiple common variants identified by genome-wide association studies showed limited evidence of the risk of breast cancer in Taiwan. In this study, we analyzed the …
12
Genetic polymorphisms in ERBB4 are thought to be associated with cancer susceptibility. In the present study, we aimed to assess the impact of ERBB4 rs12052398 T> C, rs13393577 A…
13
… However, in a genome-wide association study (GWAS), ErbB4 SNP rs13393577 showed an association with breast cancer risk in Korean population [17]. Three other ErbB4 variants …
14
Advances in high-throughput genomic-scanning have expanded the repertory of genetic variations in DNA sequences encoding ErbB tyrosine kinase receptors in humans, including …
15
1,617 HR+ HER2- (56.1%), 398 HR+ HER2+ (13.8%), 395 HR- HER2+ (13.7%), 473 HR- HER2- (16.4%) with differences between age groups and TNM stages (P<0.01). The difference …
16
Εισαγωγή: Ο καρκίνος του μαστού αποτελεί την πιο διαδεδομένη ασθένεια στις γυναίκες παγκοσμίως. Το ποσοστό συχνότητας εμφάνισης της νόσου το έτος 2008 στην Ελλάδα ήταν 61, 9 …
17
There are now more than 90 established breast cancer risk loci, with 57 new ones, revealed through genome-wide-association studies (GWAS) during the last two years. Established high, moderate and low penetrance genetic variants currently explain ∼49% of familial breast cancer risk. GWAS-discovered variants account for 14%, and it is estimated that another 1000 yet-to-be-discovered loci could contribute an additional ∼14% of familial risk. Polygenic risk scores can already be used to stratify breast cancer risk in the female population and could improve the targeting of mammographic screening programmes, which are at present largely based on age-specific risks. Fine-scale mapping and functional analyses are revealing candidate causal variants and the molecular mechanisms by which GWAS-hits may act. Better-powered GWAS and genome-wide sequencing projects are likely to continue identifying new breast cancer causal variants.
18
A number of genetic variants have been linked to increased risk of breast cancer. Little is, however, known about the prognostic significance of hereditary factors. Here, we investigated …
19
A number of genetic variants have been linked to increased risk of breast cancer. Little is, however, known about the prognostic significance of hereditary factors. Here, we investigated …
20
Volumetric mammographic density: heritability and association with breast cancer susceptibility loci
Mammographic density is a strong heritable trait, but data on its genetic component are limited to area-based and qualitative measures. We studied the heritability of …
21
With increases in life expectancy, the focus has shifted to living a healthier, longer life. By concentrating on preventing diseases before occurrence, researchers aim to diminish the …
22
Breast cancer is the most common cancer among women in the developed world. The disease results from the combined effects of genetic, environmental, reproductive and lifestyle risk …
23
In recent years, there are growing interests in adding common genetic variants to breast cancer risk prediction models and assessing their predictive performance and …
24
Genome-wide association studies (GWAS) have identified many loci associated with breast cancer risk. These studies have primarily been conducted in populations of European descent. Objective To determine whether previously reported susceptibility loci in other ethnic groups are also risk factors for breast cancer in a Chinese population. Method We genotyped 21 previously reported single nucleotide polymorphisms (SNPs) within a female Chinese cohort of 1203 breast cancer cases and 2525 healthy controls using the Sequenom iPlex platform. Fourteen SNPs passed the quality control test. These SNPs were subjected to statistical analysis for the entire cohort and were further analyzed for estrogen receptor (ER) status. The associations of the SNPs with disease susceptibility were assessed using logistic regression, adjusting for age. The Bonferroni correction was used to conservatively account for multiple testing, and the threshold for statistical significance was P<3.57×10−3 (0.05/14). Result Although none of the SNPs showed an overall association with breast cancer, an analysis of the ER status of the breast cancer patients revealed that the SIAH2 locus (rs6788895; P = 5.73×10−4, odds ratio [OR] = 0.81) is associated with ER-positive breast cancer. Conclusion A common variant in the SIAH2 locus is associated with ER-positive breast cancer in the Chinese Han population. The replication of published GWAS results in other ethnic groups provides important information regarding the genetic etiology of breast cancer.
25
Genome-wide patterns of variation across individuals provide most powerful source of data for uncovering the history of migration, expansion, and adaptation of the human population. The arrival of new technologies that type more than millions of the single nucleotide polymorphisms (SNPs) in a single experiment has made SNP in genome-wide association (GWA) assay a prudent venture. SNPs represent the most widespread type of sequence variation in genomes, and known as valuable genetic markers for revealing the evolutionary history and common genetic polymorphisms that explain the heritable risk for common diseases. Characterizing the nature of gene variation in human populations and assembling an extensive catalog of SNPs in candidate genes in association with particular diseases are the major goals of human genetics. In this article we explore the recent discovery of SNP–GWA to revolutionize not only the process of genetic variation and disease detection but also the convention of preventative and curative medicine for future prospects.
26
Although several low-penetrance loci associated with breast cancer risk were identified and confirmed, knowledge of the effect of multiple risk alleles is limited especially in …
27
… SNP rs13393577 at chromosome 2q34, located in the Epidermal Growth Factor Receptor 4 (… Furthermore, this study provides strong evidence implicating rs13393577 at 2q34 as a new …
28
… rs13393577 at 2q34 as a new risk variant for breast cancer. … rs13393577 (data not shown). To capture additional signals for rs13393577, we investigated the SNPs nearby rs13393577 (…
Curated Studies0 ▼
These studies were determined to be useful for this variant — check "Unused Studies" further down if curious what didn't make the cut.
No curated studies yet.
Unused Studies0 ▼
No unused studies.