Whole-exome sequencing identifies rare pathogenic variants in new predisposition genes for familial colorectal cancer
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The genetic heterogeneity of colorectal cancer predisposition - guidelines for gene discoveryMicrosomal epoxide hydrolase 1 (EPHX1): Gene, structure, function, and role in human diseaseNovel candidate genes may be possible predisposing factors revealed by whole exome sequencing in familial esophageal squamous cell carcinoma.The impact of DNA input amount and DNA source on the performance of whole-exome sequencing in cancer epidemiologyA germline mutation in SRRM2, a splicing factor gene, is implicated in papillary thyroid carcinoma predispositionIdentification of Novel Candidate Genes for Early-Onset Colorectal Cancer SusceptibilityIntegration of bioinformatics and imaging informatics for identifying rare PSEN1 variants in Alzheimer's disease.GeMSTONE: orchestrated prioritization of human germline mutations in the cloudScarce evidence of the causal role of germline mutations in UNC5C in hereditary colorectal cancer and polyposis.Undefined familial colorectal cancer and the role of pleiotropism in cancer susceptibility genes.Germline mutations predisposing to diffuse large B-cell lymphoma.Prevalence of germline mutations in the spindle assembly checkpoint gene BUB1B in individuals with early-onset colorectal cancer.The Fanconi anemia DNA damage repair pathway in the spotlight for germline predisposition to colorectal cancer.The genetic basis of idiopathic pulmonary fibrosisFrequent incidence of BARD1-truncating mutations in germline DNA from triple-negative breast cancer patients.How many cases of disease in a pedigree imply familial disease?SETD6 dominant negative mutation in familial colorectal cancer type X.Screening of BMPR1a for pathogenic mutations in familial colorectal cancer type X families from Newfoundland.Use of multigene-panel identifies pathogenic variants in several CRC-predisposing genes in patients previously tested for Lynch Syndrome.Targeted next generation sequencing identifies functionally deleterious germline mutations in novel genes in early-onset/familial prostate cancer.Germline variants in Hamartomatous Polyposis Syndrome-associated genes from patients with one or few hamartomatous polyps.Metastatic adrenocortical carcinoma displays higher mutation rate and tumor heterogeneity than primary tumorsThe progression of the ClinGen gene clinical validity classification over timeNovel genetic mutations detected by multigene panel are associated with hereditary colorectal cancer predisposition
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P2860
Whole-exome sequencing identifies rare pathogenic variants in new predisposition genes for familial colorectal cancer
description
2014 nî lūn-bûn
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2014年の論文
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2014年論文
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2014年論文
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2014年論文
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2014年論文
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2014年論文
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2014年论文
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2014年论文
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name
Whole-exome sequencing identif ...... for familial colorectal cancer
@en
Whole-exome sequencing identif ...... for familial colorectal cancer
@nl
type
label
Whole-exome sequencing identif ...... for familial colorectal cancer
@en
Whole-exome sequencing identif ...... for familial colorectal cancer
@nl
prefLabel
Whole-exome sequencing identif ...... for familial colorectal cancer
@en
Whole-exome sequencing identif ...... for familial colorectal cancer
@nl
P2093
P2860
P50
P356
P1433
P1476
Whole-exome sequencing identif ...... for familial colorectal cancer
@en
P2093
Anna Abulí
Clara Ruiz-Ponte
Jenifer Muñoz
Josep M Piqué
Luis Bujanda
Miriam Cuatrecasas
Montserrat Andreu
Pilar Garre
Teresa Ocaña
Trinidad Caldés
P2860
P2888
P304
P356
10.1038/GIM.2014.89
P407
P50
P577
2014-07-24T00:00:00Z
P5875
P6179
1004086821