Diagnosis of Lynch syndrome and strategies to distinguish Lynch-related tumors from sporadic MSI/dMMR tumors
J Leclerc, C Vermaut, MP Buisine - Cancers, 2021 - mdpi.com
Simple Summary Microsatellite instability (MSI) is a hallmark of Lynch syndrome (LS)-related
tumors but is not specific, as most of MSI/mismatch repair-deficient (dMMR) tumors are …
tumors but is not specific, as most of MSI/mismatch repair-deficient (dMMR) tumors are …
[HTML][HTML] Next-generation sequencing for constitutional variants in the clinical laboratory, 2021 revision: a technical standard of the American College of Medical …
Next-generation sequencing (NGS) technologies are now established in clinical laboratories
as a primary testing modality in genomic medicine. These technologies have reduced the …
as a primary testing modality in genomic medicine. These technologies have reduced the …
[HTML][HTML] Molecular methods for colorectal cancer screening: Progress with next-generation sequencing evolution
Currently, colorectal cancer (CRC) represents the third most common malignancy and the
second most deadly cancer worldwide, with a higher incidence in developed countries. Like …
second most deadly cancer worldwide, with a higher incidence in developed countries. Like …
Robust and accurate estimation of paralog-specific copy number for duplicated genes using whole-genome sequencing
T Prodanov, V Bansal - Nature communications, 2022 - nature.com
The human genome contains hundreds of low-copy repeats (LCRs) that are challenging to
analyze using short-read sequencing technologies due to extensive copy number variation …
analyze using short-read sequencing technologies due to extensive copy number variation …
The clinical utility and costs of whole-genome sequencing to detect cancer susceptibility variants—a multi-site prospective cohort study
Background Many families and individuals do not meet criteria for a known hereditary
cancer syndrome but display unusual clusters of cancers. These families may carry …
cancer syndrome but display unusual clusters of cancers. These families may carry …
Using comprehensive genomic and functional analyses for resolving genotype–phenotype mismatches in children with suspected CMMRD in Lebanon: an IRRDC …
Constitutional mismatch repair deficiency (CMMRD) is an aggressive and highly penetrant
cancer predisposition syndrome. Because of its variable clinical presentation and …
cancer predisposition syndrome. Because of its variable clinical presentation and …
Resolving misalignment interference for NGS-based clinical diagnostics
C Lee, HY Yen, AW Zhong, H Gao - Human Genetics, 2021 - Springer
Next-generation sequencing (NGS) is an incredibly useful tool for genetic disease
diagnosis. However, the most commonly used bioinformatics methods for analyzing …
diagnosis. However, the most commonly used bioinformatics methods for analyzing …
Scalable detection of technically challenging variants through modified next‐generation sequencing
Background Some clinically important genetic variants are not easily evaluated with next‐
generation sequencing (NGS) methods due to technical challenges arising from high …
generation sequencing (NGS) methods due to technical challenges arising from high …
Diagnostic challenges in a CMMRD patient with a novel mutation in the PMS2 gene: a case report
S Tan, X Wu, A Wang, L Ying - BMC medical genomics, 2021 - Springer
Background Constitutional mismatch repair deficiency (CMMRD) is a rare autosomal
recessive condition, which is caused by biallelic mutations in mismatch repair genes: MSH2 …
recessive condition, which is caused by biallelic mutations in mismatch repair genes: MSH2 …
The spectrum of Lynch syndrome-associated germ-line mutations in Russia
GA Yanus, TA Akhapkina, AG Iyevleva… - European journal of …, 2020 - Elsevier
Hereditary non-polyposis colorectal cancer (HNPCC), also known as Lynch syndrome (LS),
is a common cancer-predisposing syndrome. This study aimed to investigate the spectrum of …
is a common cancer-predisposing syndrome. This study aimed to investigate the spectrum of …