Brandie Heald, Heather Hampel, James Church, Beth Dudley, Michael J Hall, Maureen E Mork, Aparajita Singh, Elena Stoffel, Jessica Stoll, Y Nancy You, Matthew B Yurgelun, Sonia S Kupfer. Fam Cancer 2020
Times Cited: 15
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Cancer Susceptibility Gene Mutations in Individuals With Colorectal Cancer.
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Prevalence and Spectrum of Germline Cancer Susceptibility Gene Mutations Among Patients With Early-Onset Colorectal Cancer.
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A germline homozygous mutation in the base-excision repair gene NTHL1 causes adenomatous polyposis and colorectal cancer.
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Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome.
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Matthew B Yurgelun, Brian Allen, Rajesh R Kaldate, Karla R Bowles, Thaddeus Judkins, Praveen Kaushik, Benjamin B Roa, Richard J Wenstrup, Anne-Renee Hartman, Sapna Syngal. Gastroenterology 2015
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Risk of colorectal cancer for carriers of mutations in MUTYH, with and without a family history of cancer.
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Expanding the genotype-phenotype spectrum in hereditary colorectal cancer by gene panel testing.
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Exome Sequencing Identifies Biallelic MSH3 Germline Mutations as a Recessive Subtype of Colorectal Adenomatous Polyposis.
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Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas.
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Hereditary mixed polyposis syndrome is caused by a 40-kb upstream duplication that leads to increased and ectopic expression of the BMP antagonist GREM1.
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26
Novel genetic mutations detected by multigene panel are associated with hereditary colorectal cancer predisposition.
Lorena Martin-Morales, Paula Rofes, Eduardo Diaz-Rubio, Patricia Llovet, Victor Lorca, Inmaculada Bando, Pedro Perez-Segura, Miguel de la Hoya, Pilar Garre, Vanesa Garcia-Barberan,[...]. PLoS One 2018
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POLE and POLD1 mutations in 529 kindred with familial colorectal cancer and/or polyposis: review of reported cases and recommendations for genetic testing and surveillance.
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Fernando Bellido, Marta Pineda, Gemma Aiza, Rafael Valdés-Mas, Matilde Navarro, Diana A Puente, Tirso Pons, Sara González, Silvia Iglesias, Esther Darder,[...]. Genet Med 2016
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High Prevalence of Hereditary Cancer Syndromes in Adolescents and Young Adults With Colorectal Cancer.
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Validation of Recently Proposed Colorectal Cancer Susceptibility Gene Variants in an Analysis of Families and Patients-a Systematic Review.
Peter Broderick, Sara E Dobbins, Daniel Chubb, Ben Kinnersley, Malcolm G Dunlop, Ian Tomlinson, Richard S Houlston. Gastroenterology 2017
Peter Broderick, Sara E Dobbins, Daniel Chubb, Ben Kinnersley, Malcolm G Dunlop, Ian Tomlinson, Richard S Houlston. Gastroenterology 2017
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Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.
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Incidence of colorectal cancer in BRCA1 and BRCA2 mutation carriers: results from a follow-up study.
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Germline Pathogenic Variants in Homologous Recombination and DNA Repair Genes in an Asian Cohort of Young-Onset Colorectal Cancer.
Ming Ren Toh, Jian Bang Chiang, Siao Ting Chong, Sock Hoai Chan, Nur Diana Binte Ishak, Eliza Courtney, Wei Hao Lee, Syed Muhammad Fahmy Bin Syed Abdillah Al, John Carson Allen, Kiat Hon Lim,[...]. JNCI Cancer Spectr 2018
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Germline mutations in oncogene-induced senescence pathways are associated with multiple sessile serrated adenomas.
Manish K Gala, Yusuke Mizukami, Long P Le, Kentaro Moriichi, Thomas Austin, Masayoshi Yamamoto, Gregory Y Lauwers, Nabeel Bardeesy, Daniel C Chung. Gastroenterology 2014
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Mutation spectrum of germline cancer susceptibility genes among unselected Chinese colorectal cancer patients.
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Mutational Signature Analysis Reveals NTHL1 Deficiency to Cause a Multi-tumor Phenotype.
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Mutations in AXIN2 cause familial tooth agenesis and predispose to colorectal cancer.
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AXIN2-associated autosomal dominant ectodermal dysplasia and neoplastic syndrome.
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Lack of evidence for germline RNF43 mutations in patients with serrated polyposis syndrome from a large multinational study.
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RNF43 germline and somatic mutation in serrated neoplasia pathway and its association with BRAF mutation.
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Phenotypic confirmation of oligodontia, colorectal polyposis and cancer in a family carrying an exon 7 nonsense variant in the AXIN2 gene.
Catherine Beard, Rebecca Purvis, Ingrid M Winship, Finlay A Macrae, Daniel D Buchanan. Fam Cancer 2019
Catherine Beard, Rebecca Purvis, Ingrid M Winship, Finlay A Macrae, Daniel D Buchanan. Fam Cancer 2019
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Prevalence of Germline Mutations in Polyposis and Colorectal Cancer-Associated Genes in Patients With Multiple Colorectal Polyps.
Peter P Stanich, Rachel Pearlman, Alice Hinton, Stephanie Gutierrez, Holly LaDuca, Heather Hampel, Kory Jasperson. Clin Gastroenterol Hepatol 2019
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Association Between Inherited Germline Mutations in Cancer Predisposition Genes and Risk of Pancreatic Cancer.
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Hereditary gastrointestinal cancers: ESMO Clinical Practice Guidelines for diagnosis, treatment and follow-up†.
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Consensus Guidelines on Genetic` Testing for Hereditary Breast Cancer from the American Society of Breast Surgeons.
Eric R Manahan, Henry M Kuerer, Molly Sebastian, Kevin S Hughes, Judy C Boughey, David M Euhus, Susan K Boolbol, Walton A Taylor. Ann Surg Oncol 2019
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The APC p.I1307K polymorphism is a significant risk factor for CRC in average risk Ashkenazi Jews.
Ben Boursi, Tal Sella, Eliezer Liberman, Shiran Shapira, Maayan David, Diana Kazanov, Nadir Arber, Sarah Kraus. Eur J Cancer 2013
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Nivolumab in patients with metastatic DNA mismatch repair-deficient or microsatellite instability-high colorectal cancer (CheckMate 142): an open-label, multicentre, phase 2 study.
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Mismatch repair deficiency predicts response of solid tumors to PD-1 blockade.
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Rare disruptive mutations and their contribution to the heritable risk of colorectal cancer.
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Inactivating germ-line and somatic mutations in polypeptide N-acetylgalactosaminyltransferase 12 in human colon cancers.
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13
Germline Mutations in FAN1 Cause Hereditary Colorectal Cancer by Impairing DNA Repair.
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A novel ribosomal protein S20 variant in a family with unexplained colorectal cancer and polyposis.
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First evidence for digenic inheritance in hereditary colorectal cancer by mutations in the base excision repair genes.
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Inherited deleterious variants in GALNT12 are associated with CRC susceptibility.
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Germline mutation of RPS20, encoding a ribosomal protein, causes predisposition to hereditary nonpolyposis colorectal carcinoma without DNA mismatch repair deficiency.
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Somatic APC mosaicism and oligogenic inheritance in genetically unsolved colorectal adenomatous polyposis patients.
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Use of multigene-panel identifies pathogenic variants in several CRC-predisposing genes in patients previously tested for Lynch Syndrome.
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13
Germline mutation p.N363K in POLE is associated with an increased risk of colorectal cancer and giant cell glioblastoma.
P Vande Perre, A Siegfried, C Corsini, D Bonnet, C Toulas, N Hamzaoui, J Selves, E Chipoulet, J S Hoffmann, E Uro-Coste,[...]. Fam Cancer 2019
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13
The missing heritability of familial colorectal cancer.
Stephanie A Schubert, Hans Morreau, Noel F C C de Miranda, Tom van Wezel. Mutagenesis 2020
Stephanie A Schubert, Hans Morreau, Noel F C C de Miranda, Tom van Wezel. Mutagenesis 2020
18
Co-cited is the co-citation frequency, indicating how many articles cite the article together with the query article. Similarity is the co-citation as percentage of the times cited of the query article or the article in the search results, whichever is the lowest. These numbers are calculated for the last 100 citations when articles are cited more than 100 times.