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Exome Sequencing Identifies Biallelic MSH3 Germline Mutations as a Recessive Subtype of Colorectal Adenomatous Polyposis.
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Deep intronic APC mutations explain a substantial proportion of patients with familial or early‐onset adenomatous polyposis
TLDR
A few deep intronic mutations contribute substantially to the APC mutation spectrum and complementary DNA analysis and/or target sequencing of intronic regions should be considered as an additional mutation discovery approach in polyposis patients.
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Low-level APC mutational mosaicism is the underlying cause in a substantial fraction of unexplained colorectal adenomatous polyposis cases
TLDR
A high prevalence of pathogenic mosaic APC mutations below the detection thresholds of routine diagnostics in adenomatous polyposis is indicated, even if high-coverage sequencing of leucocyte DNA alone is taken into account.
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Frequency and phenotypic spectrum of germline mutations in POLE and seven other polymerase genes in 266 patients with colorectal adenomas and carcinomas
TLDR
The present study broadens the phenotypic spectrum of PPAP to duodenal adenomas and carcinomas, and identified novel, potentially pathogenic variants in four polymerase genes.
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Genome‐wide CNV analysis in 221 unrelated patients and targeted high‐throughput sequencing reveal novel causative candidate genes for colorectal adenomatous polyposis
TLDR
A group of rarely affected genes which are likely to predispose to colorectal adenoma formation are identified and previously published candidates for tumor predisposition as etiologically relevant are confirmed.
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Exome sequencing identifies potential novel candidate genes in patients with unexplained colorectal adenomatous polyposis
TLDR
Three candidate genes which might represent rare causes for a predisposition to colorectal adenoma formation, especially PIEZO1 (FAM38A) and ZSWIM7 (SWS1) warrant further exploration.
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MUTYH-associated polyposis (MAP): evidence for the origin of the common European mutations p.Tyr179Cys and p.Gly396Asp by founder events
TLDR
Results provide evidence for strong founder effects and suggest that the p.Tyr179Cys and p.Gly396Asp mutations derive from ancestors who lived between 5–8 thousand years and 6–9 thousand years B.C., respectively.
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Copy number variation analysis and targeted NGS in 77 families with suspected Lynch syndrome reveals novel potential causative genes
TLDR
Investigation of 77 unrelated, mutation‐negative patients with clinically suspected LS and a loss of MSH2 in tumor tissue found six patients harbored POLE variants outside the exonuclease domain, suggesting that these might be implicated in hereditary CRC.
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Genotype Pattern Mining for Pairs of Interacting Variants Underlying Digenic Traits
TLDR
This work makes use of FPM approaches to find pairs of genotypes (from different variants) that can discriminate between cases and controls, based on genotype patterns of length two, and permutation testing allows assigning p-values to genotypes patterns, where the null hypothesis refers to equal pattern frequencies in cases and control.
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Exome sequencing characterizes the somatic mutation spectrum of early serrated lesions in a patient with serrated polyposis syndrome (SPS)
TLDR
Somatic mutations seem to be rare events in early hyperplastic and serrated lesions of SPS patients and other alterations such as non-coding variants or epigenetic changes might be the major driving force of tumour progression in SPS.
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