Associated Papers
Pathogenic variation in human DNA damage repair genes was originated from the evolutionary process of modern humans.
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Pathogenic variants in human DNA damage repair genes mostly arose in recent human history.
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Bmc Cancer, 2024
38575974 (PubMed )
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Tumor analysis of MMR genes in Lynch-like syndrome: Challenges associated with results interpretation.
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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
Genomic profile of Chinese patients with endometrial carcinoma.
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Bmc Cancer, 2023
Clinicopathological and molecular characterization of Brazilian families at risk for Lynch syndrome.
de Paula AE et al.
Cancer Genetics, 2021
Germline MLH1, MSH2 and MSH6 variants in Brazilian patients with colorectal cancer and clinical features suggestive of Lynch Syndrome.
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Cancer Medicine, 2018
A survey of the clinicopathological and molecular characteristics of patients with suspected Lynch syndrome in Latin America.
Rossi BM et al.
Bmc Cancer, 2017
Integrative analysis of hereditary nonpolyposis colorectal cancer: the contribution of allele-specific expression and other assays to diagnostic algorithms.
De Lellis L et al.
Plos One, 2013
24278394 (PubMed )
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Different splicing defects lead to differential effects downstream of the lipid and protein phosphatase activities of PTEN.
Agrawal S et al.
Human Molecular Genetics, 2005
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