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Evolutionary origin of germline pathogenic variants in human DNA mismatch repair genes.
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Human Genomics, 2024
38287404 (PubMed )
Supplement: 40246_2024_573_MOESM3_ESM.xls › MLH1
Targeted Sequencing Revealed Distinct Mutational Profiles of Ocular and Extraocular Sebaceous Carcinomas.
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Cancers, 2021
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Supplement: cancers-13-04810-s001.zip › cancers-1366838-supplementary.xlsx › Table_S4.
Evaluation of literature searching tools for curation of mismatch repair gene variants in hereditary colon cancer.
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Advanced Genetics (hoboken, N.j.), 2021
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Sequencing of Lynch syndrome tumors reveals the importance of epigenetic alterations.
Porkka N et al.
Oncotarget, 2017
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Supplement: oncotarget-08-108020-s002.xlsx › Som._mut._as_second_hit
Rare disruptive mutations and their contribution to the heritable risk of colorectal cancer.
Chubb D et al.
Nature Communications, 2016
27329137 (PubMed )
Supplement: ncomms11883-s1.pdf
Genetic diagnosis of high-penetrance susceptibility for colorectal cancer (CRC) is achievable for a high proportion of familial CRC by exome sequencing.
Chubb D et al.
Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology, 2015
Distinct molecular profiles in Lynch syndrome-associated and sporadic ovarian carcinomas.
Niskakoski A et al.
International Journal of Cancer, 2013
No evidence for dual role of loss of heterozygosity in hereditary non-polyposis colorectal cancer.
Tuupanen S et al.
Oncogene, 2007
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