[HTML][HTML] ESMO recommendations on microsatellite instability testing for immunotherapy in cancer, and its relationship with PD-1/PD-L1 expression and tumour …
Background Cancers with a defective DNA mismatch repair (dMMR) system contain
thousands of mutations most frequently located in monomorphic microsatellites and are …
thousands of mutations most frequently located in monomorphic microsatellites and are …
Lynch syndrome: from screening to diagnosis to treatment in the era of modern molecular oncology
SA Cohen, CC Pritchard… - Annual review of genomics …, 2019 - annualreviews.org
Lynch syndrome is a hereditary cancer predisposition syndrome caused by germline
alterations in the mismatch repair genes and is the most common etiology of hereditary …
alterations in the mismatch repair genes and is the most common etiology of hereditary …
Universal screening for Lynch syndrome in a large consecutive cohort of Chinese colorectal cancer patients: high prevalence and unique molecular features
W Jiang, MY Cai, SY Li, JX Bei, F Wang… - … journal of cancer, 2019 - Wiley Online Library
The prevalence of Lynch syndrome (LS) varies significantly in different populations,
suggesting that ethnic features might play an important role. We enrolled 3330 consecutive …
suggesting that ethnic features might play an important role. We enrolled 3330 consecutive …
Screening of MSI detection loci and their heterogeneity in East Asian colorectal cancer patients
W Bai, J Ma, Y Liu, J Liang, Y Wu, X Yang… - Cancer …, 2019 - Wiley Online Library
Objective This study aims to screen the MSI detection loci suitable for the East Asian
colorectal cancer patients. and explore its intratumoral heterogeneity. Methods A total of 271 …
colorectal cancer patients. and explore its intratumoral heterogeneity. Methods A total of 271 …
Cost-effectiveness analysis of reflex testing for Lynch syndrome in women with endometrial cancer in the UK setting
Background Lynch syndrome is a hereditary cancer syndrome caused by constitutional
pathogenic variants in the DNA mismatch repair (MMR) system, leading to increased risk of …
pathogenic variants in the DNA mismatch repair (MMR) system, leading to increased risk of …
A gene expression assay for simultaneous measurement of microsatellite instability and anti-tumor immune activity
P Danaher, S Warren, SF Ong, N Elliott… - … for immunotherapy of …, 2019 - Springer
Background Clinical benefit from checkpoint inhibitors has been associated in a tumor-
agnostic manner with two main tumor traits. The first is tumor antigenicity, which is typically …
agnostic manner with two main tumor traits. The first is tumor antigenicity, which is typically …
Effective identification of Lynch syndrome in gastroenterology practice
C Muller, L Matthews, SS Kupfer, JM Weiss - Current treatment options in …, 2019 - Springer
Purpose of review Identification of Lynch syndrome is important from an individual patient
and public health standpoint. As paradigms for Lynch syndrome diagnosis have shifted in …
and public health standpoint. As paradigms for Lynch syndrome diagnosis have shifted in …
[HTML][HTML] Spectrum of gastrointestinal tract pathology in a multicenter cohort of 43 Cowden syndrome patients
J Borowsky, N Setia, C Rosty, R Conrad, R Susman… - Modern Pathology, 2019 - Elsevier
Most patients with Cowden syndrome have lesions in the gastrointestinal tract, characterized
by multiple polyps of various histologic types in the large bowel, polyps in the upper …
by multiple polyps of various histologic types in the large bowel, polyps in the upper …
Germline mismatch repair gene variants analyzed by universal sequencing in Japanese cancer patients
Y Kiyozumi, H Matsubayashi, Y Horiuchi… - Cancer …, 2019 - Wiley Online Library
Background Lynch syndrome (LS) is the commonest inherited cancer syndrome caused by
pathogenic variants of germline DNA mismatch repair (g. MMR) genes. Genome‐wide …
pathogenic variants of germline DNA mismatch repair (g. MMR) genes. Genome‐wide …
Experience of the implementation and outcomes of universal testing for Lynch syndrome in the United Kingdom
A Cavazza, C Radia, C Harlow… - Colorectal …, 2019 - Wiley Online Library
Aim Colorectal cancer (CRC) is diagnosed in approximately 45 000 people annually in the
UK, and it is estimated that Lynch syndrome (LS) accounts for 3.1% of these cases. In …
UK, and it is estimated that Lynch syndrome (LS) accounts for 3.1% of these cases. In …