about
Recent discoveries in the genetics of familial colorectal cancer and polyposis.POLE and POLD1 mutations in 529 kindred with familial colorectal cancer and/or polyposis: review of reported cases and recommendations for genetic testing and surveillanceNew insights into POLE and POLD1 germline mutations in familial colorectal cancer and polyposisGenetic predisposition to colorectal cancer: where we stand and future perspectivesMethyl-CpG binding proteins identify novel sites of epigenetic inactivation in human cancer.Germline Mutations in FAN1 Cause Hereditary Colorectal Cancer by Impairing DNA Repair.No association between germline allele-specific expression of TGFBR1 and colorectal cancer risk in Caucasian and Ashkenazi populations.Telomere length and genetic anticipation in Lynch syndromeExome Sequencing Reveals AMER1 as a Frequently Mutated Gene in Colorectal CancerScarce evidence of the causal role of germline mutations in UNC5C in hereditary colorectal cancer and polyposis.Genetic variant in the telomerase gene modifies cancer risk in Lynch syndromeLonger telomeres are associated with cancer risk in MMR-proficient hereditary non-polyposis colorectal cancer.A novel germline POLE mutation causes an early onset cancer prone syndrome mimicking constitutional mismatch repair deficiency.Debate about TGFBR1 and the susceptibility to colorectal cancerCloning of a new familial t(3;8) translocation associated with conventional renal cell carcinoma reveals a 5 kb microdeletion and no gene involved in the rearrangement.Molecular cytogenetic characterization of rhabdomyosarcoma cell lines.About the origin and development of hereditary conventional renal cell carcinoma in a four-generation t(3;8)(p14.1;q24.23) family.Concurrence of germline mutations in the APC and PTEN genes in a colonic polyposis family member.Association Between Germline Mutations in BRF1, a Subunit of the RNA Polymerase III Transcription Complex, and Hereditary Colorectal Cancer.Evidence suggests that germline RNF43 mutations are a rare cause of serrated polyposis.Exome sequencing identifies MUTYH mutations in a family with colorectal cancer and an atypical phenotype.Germline mutations in the spindle assembly checkpoint genes BUB1 and BUB3 are infrequent in familial colorectal cancer and polyposis.Two novel colorectal cancer risk loci in the region on chromosome 9q22.32.Delineating the Phenotypic Spectrum of the NTHL1-Associated Polyposis.GALNT12 is not a major contributor of familial colorectal cancer type X.Reply: Allelic imbalance of TGFBR1 is not a major contributor to the genetic predisposition to colorectal cancer.Colon-specific eQTL analysis to inform on functional SNPsA predictor based on the somatic genomic changes of the BRCA1/BRCA2 breast cancer tumors identifies the non-BRCA1/BRCA2 tumors with BRCA1 promoter hypermethylationComprehensive molecular characterisation of hereditary non-polyposis colorectal tumours with mismatch repair proficiencyAMER1 Is a Frequently Mutated Gene in Colorectal Cancer--LetterMalignant degeneration of presacral teratoma in the Currarino anomalyGermline variation in the oxidative DNA repair genes NUDT1 and OGG1 is not associated with hereditary colorectal cancer or polyposisNTHL1 biallelic mutations seldom cause colorectal cancer, serrated polyposis or a multi-tumor phenotype, in absence of colorectal adenomas.Clinicopathologic and pedigree differences in amsterdam I-positive hereditary nonpolyposis colorectal cancer families according to tumor microsatellite instability statusMLH1 germline epimutations in selected patients with early-onset non-polyposis colorectal cancerAnalysis of myelodysplastic syndromes with complex karyotypes by high-resolution comparative genomic hybridization and subtelomeric CGH arrayGeneration of the BCR/ABL fusion gene in a Philadelphia chromosome-negative chronic myeloid leukaemia: insertion of 5.6 Mb of 9q34 into the BCR region of chromosome 22Telomere length alterations in microsatellite stable colorectal cancer and association with the immune responseGenetic predisposition to colorectal cancer: syndromes, genes, classification of genetic variants and implications for precision medicineGermline variation in O6-methylguanine-DNA methyltransferase (MGMT) as cause of hereditary colorectal cancer
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hulumtuese
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հետազոտող
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Laura Valle
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Laura Valle
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Laura Valle
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Laura Valle
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Laura Valle
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Laura Valle
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Laura Valle
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Laura Valle
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Laura Valle
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Laura Valle
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Laura Valle
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Laura Valle
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