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Orthotopic Models of Human Pancreatic Cancer.
- Published in:
- Annals of the New York Academy of Sciences, 1999, v. 880, n. 1, p. 103, doi. 10.1111/j.1749-6632.1999.tb09514.x
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- Article
Tumor LOH analysis provides reliable linkage information for prenatal genetic testing of sporadic NF1 patients.
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- Genes, Chromosomes & Cancer, 2007, v. 46, n. 9, p. 820, doi. 10.1002/gcc.20468
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- Article
Molecular characterization of a t(9;12)(p21;q13) balanced chromosome translocation in combination with integrative genomics analysis identifies C9orf14 as a candidate tumor‐suppressor.
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- Genes, Chromosomes & Cancer, 2007, v. 46, n. 2, p. 155, doi. 10.1002/gcc.20396
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- Article
Scarce evidence of the causal role of germline mutations in UNC5C in hereditary colorectal cancer and polyposis.
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- Scientific Reports, 2016, p. 20697, doi. 10.1038/srep20697
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- Article
Disruption of the antiproliferative TGF-β signaling pathways in human pancreatic cancer cells.
- Published in:
- Oncogene, 1998, v. 17, n. 15, p. 1969, doi. 10.1038/sj.onc.1202118
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- Article
Colorectal cancer risk and the APC D1822V variant.
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- International Journal of Cancer, 2004, v. 112, n. 1, p. 161, doi. 10.1002/ijc.20361
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- Article
Genetic susceptibility and gastric cancer risk.
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- International Journal of Cancer, 2002, v. 100, n. 3, p. 249, doi. 10.1002/ijc.10466
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- Article
A highly sensitive method for K- ras mutation detection is useful in diagnosis of gastrointestinal cancer.
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- International Journal of Cancer, 2000, v. 85, n. 1, p. 73, doi. 10.1002/(SICI)1097-0215(20000101)85:1<73::AID-IJC13>3.0.CO;2-#
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- Article
Novel Methylation Panel for the Early Detection of Colorectal Tumors in Stool DNA.
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- Clinical Colorectal Cancer, 2010, v. 9, n. 3, p. 168, doi. 10.3816/CCC.2010.n.023
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- Article
NTHL1 biallelic mutations seldom cause colorectal cancer, serrated polyposis or a multi-tumor phenotype, in absence of colorectal adenomas.
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- Scientific Reports, 2019, v. 9, n. 1, p. N.PAG, doi. 10.1038/s41598-019-45281-1
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- Article
Aromatic DNA adducts and polymorphisms in metabolic genes in healthy adults: findings from the EPIC-Spain cohort.
- Published in:
- Carcinogenesis, 2009, v. 30, n. 6, p. 968, doi. 10.1093/carcin/bgp062
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- Article
Next-generation sequencing meets genetic diagnostics: development of a comprehensive workflow for the analysis of BRCA1 and BRCA2 genes.
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- European Journal of Human Genetics, 2013, v. 21, n. 8, p. 864, doi. 10.1038/ejhg.2012.270
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- Article
Genetic variant in the telomerase gene modifies cancer risk in Lynch syndrome.
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- European Journal of Human Genetics, 2013, v. 21, n. 5, p. 511, doi. 10.1038/ejhg.2012.204
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- Article
Genetic and genomic analysis modeling of germline c-MYC overexpression and cancer susceptibility.
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- BMC Genomics, 2008, v. 9, p. 1, doi. 10.1186/1471-2164-9-12
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- Article
Integrative analysis of a cancer somatic mutome.
- Published in:
- Molecular Cancer, 2007, v. 6, p. 13, doi. 10.1186/1476-4598-6-13
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- Publication type:
- Article
BARD1 Pathogenic Variants Are Associated with Triple-Negative Breast Cancer in a Spanish Hereditary Breast and Ovarian Cancer Cohort.
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- Genes, 2021, v. 12, n. 2, p. 150, doi. 10.3390/genes12020150
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- Article
Comprehensive establishment and characterization of orthoxenograft mouse models of malignant peripheral nerve sheath tumors for personalized medicine.
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- EMBO Molecular Medicine, 2015, v. 7, n. 5, p. 608, doi. 10.15252/emmm.201404430
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- Article
Recommendations for the classification of germline variants in the exonuclease domain of POLE and POLD1.
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- Genome Medicine, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s13073-023-01234-y
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- Article
MLH1 methylation screening is effective in identifying epimutation carriers.
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- European Journal of Human Genetics, 2012, v. 20, n. 12, p. 1256, doi. 10.1038/ejhg.2012.136
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- Article
MLH1 promoter hypermethylation in the analytical algorithm of Lynch syndrome: a cost-effectiveness study.
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- European Journal of Human Genetics, 2012, v. 20, n. 7, p. 762, doi. 10.1038/ejhg.2011.277
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- Article
Modulation of aberrant NF1 pre-mRNA splicing by kinetin treatment.
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- European Journal of Human Genetics, 2010, v. 18, n. 5, p. 614, doi. 10.1038/ejhg.2009.212
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- Article
Investigating the effect of 28 BRCA1 and BRCA2 mutations on their related transcribed mRNA.
- Published in:
- Breast Cancer Research & Treatment, 2016, v. 155, n. 2, p. 253, doi. 10.1007/s10549-015-3676-9
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- Article
Erratum to: Immortalized bovine pancreatic duct cells become tumorigenic after transfection with mutant k-ras.
- Published in:
- 2012
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- Correction notice
First international workshop of the ATM and cancer risk group (4-5 December 2019).
- Published in:
- Familial Cancer, 2022, v. 21, n. 2, p. 211, doi. 10.1007/s10689-021-00248-y
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- Article
Elucidating the clinical significance of two PMS2 missense variants coexisting in a family fulfilling hereditary cancer criteria.
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- Familial Cancer, 2017, v. 16, n. 4, p. 501, doi. 10.1007/s10689-017-9981-1
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- Publication type:
- Article
vaRHC: an R package for semi-automation of variant classification in hereditary cancer genes according to ACMG/AMP and gene-specific ClinGen guidelines.
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- Bioinformatics, 2023, v. 39, n. 3, p. 1, doi. 10.1093/bioinformatics/btad128
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- Article
CNVfilteR: an R/Bioconductor package to identify false positives produced by germline NGS CNV detection tools.
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- Bioinformatics, 2021, v. 37, n. 22, p. 4227, doi. 10.1093/bioinformatics/btab356
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- Publication type:
- Article
Longer Telomeres Are Associated with Cancer Risk in MMR-Proficient Hereditary Non-Polyposis Colorectal Cancer.
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- PLoS ONE, 2014, v. 9, n. 2, p. 1, doi. 10.1371/journal.pone.0086063
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- Article
Functional and Structural Analysis of C-Terminal BRCA1 Missense Variants.
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- PLoS ONE, 2013, v. 8, n. 4, p. 1, doi. 10.1371/journal.pone.0061302
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- Article
Telomere Length and Genetic Anticipation in Lynch Syndrome.
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- PLoS ONE, 2013, v. 8, n. 4, p. 1, doi. 10.1371/journal.pone.0061286
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- Article
Biological Convergence of Cancer Signatures.
- Published in:
- PLoS ONE, 2009, v. 4, n. 2, p. 1, doi. 10.1371/journal.pone.0004544
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- Article
Oncogenic KRAS is not necessary for Wnt signalling activation in APC-associated FAP adenomas.
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- Journal of Pathology, 2010, v. 221, n. 1, p. 57, doi. 10.1002/path.2685
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- Article
Erratum: Scarce evidence of the causal role of germline mutations in UNC5C in hereditary colorectal cancer and polyposis.
- Published in:
- Scientific Reports, 2016, p. 23880, doi. 10.1038/srep23880
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- Publication type:
- Article
Tumor analysis of MMR genes in Lynch‐like syndrome: Challenges associated with results interpretation.
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- Cancer Medicine, 2024, v. 13, n. 7, p. 1, doi. 10.1002/cam4.7041
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- Article
A genetic variant in telomerase reverse transcriptase (TERT) modifies cancer risk in Lynch syndrome patients harbouring pathogenic MSH2 variants.
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- Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-90501-2
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- Article
A Collaborative Effort to Define Classification Criteria for ATM Variants in Hereditary Cancer Patients.
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- Clinical Chemistry, 2021, v. 67, n. 3, p. 518, doi. 10.1093/clinchem/hvaa250
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- Article
Antisense therapeutics for neurofibromatosis type 1 caused by deep intronic mutations.
- Published in:
- Human Mutation, 2009, v. 30, n. 3, p. 454, doi. 10.1002/humu.20933
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- Article
Non-Lynch Familial and Early-Onset Colorectal Cancer Explained by Accumulation of Low-Risk Genetic Variants.
- Published in:
- Cancers, 2021, v. 13, n. 15, p. 3857, doi. 10.3390/cancers13153857
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- Article
Correction: Dueñas et al. Assessing Effectiveness of Colonic and Gynecological Risk Reducing Surgery in Lynch Syndrome Individuals. Cancers 2020, 12 , 3419.
- Published in:
- 2021
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- Publication type:
- Correction Notice
Assessing Effectiveness of Colonic and Gynecological Risk Reducing Surgery in Lynch Syndrome Individuals.
- Published in:
- Cancers, 2020, v. 12, n. 11, p. 3419, doi. 10.3390/cancers12113419
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- Article
Exploring the Role of Mutations in Fanconi Anemia Genes in Hereditary Cancer Patients.
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- Cancers, 2020, v. 12, n. 4, p. 829, doi. 10.3390/cancers12040829
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- Article
Nanofluidic Digital PCR for KRAS Mutation Detection and Quantification in Gastrointestinal Cancer.
- Published in:
- Clinical Chemistry, 2012, v. 58, n. 9, p. 1332, doi. 10.1373/clinchem.2012.186577
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- Article
Assessing the RNA effect of 26 DNA variants in the BRCA1 and BRCA2 genes.
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- Breast Cancer Research & Treatment, 2012, v. 132, n. 3, p. 979, doi. 10.1007/s10549-011-1661-5
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- Article
Identification of a new complex rearrangement affecting exon 20 of BRCA1.
- Published in:
- 2011
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- Publication type:
- Report
Candidate genes for hereditary colorectal cancer: Mutational screening and systematic review.
- Published in:
- Human Mutation, 2020, v. 41, n. 9, p. 1563, doi. 10.1002/humu.24057
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- Article
Contribution to colonic polyposis of recently proposed predisposing genes and assessment of the prevalence of NTHL1‐ and MSH3‐associated polyposes.
- Published in:
- Human Mutation, 2019, v. 40, n. 11, p. 1910, doi. 10.1002/humu.23853
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- Article
Novel POLE pathogenic germline variant in a family with multiple primary tumors results in distinct mutational signatures.
- Published in:
- Human Mutation, 2019, v. 40, n. 1, p. 36, doi. 10.1002/humu.23676
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- Article
Germline variation in the oxidative DNA repair genes NUDT1 and OGG1 is not associated with hereditary colorectal cancer or polyposis.
- Published in:
- Human Mutation, 2018, v. 39, n. 9, p. 1214, doi. 10.1002/humu.23564
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- Publication type:
- Article
ICO Amplicon NGS Data Analysis: A Web Tool for Variant Detection in Common High-Risk Hereditary Cancer Genes Analyzed by Amplicon GS Junior Next-Generation Sequencing.
- Published in:
- Human Mutation, 2014, v. 35, n. 3, p. 271, doi. 10.1002/humu.22484
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- Article
GALNT12 is Not a Major Contributor of Familial Colorectal Cancer Type X.
- Published in:
- Human Mutation, 2014, v. 35, n. 1, p. 50, doi. 10.1002/humu.22454
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- Article