Publications:

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Mismatch repair deficiency in early-onset duodenal, ampullary, and pancreatic carcinomas is a strong indicator for a hereditary defect.

The Journal Of Pathology. Clinical Research

Kryklyva, Valentyna V; Brosens, Lodewijk Aa LA; Marijnissen-van Zanten, Monica Aj MA; Ligtenberg, Marjolijn Jl MJ; Nagtegaal, Iris D ID

Publication Date: 2022-03

Variant appearance in text: MLH1: 137G>T; Ser46Ile

PubMed Link: 34873870

Variant Present in the following documents:

• CJP2-8-181.pdf

View BVdb publication page

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Mismatch repair deficiency in early-onset duodenal, ampullary, and pancreatic carcinomas is a strong indicator for a hereditary defect.

The Journal Of Pathology. Clinical Research

Kryklyva, Valentyna V; Brosens, Lodewijk Aa LA; Marijnissen-van Zanten, Monica Aj MA; Ligtenberg, Marjolijn Jl MJ; Nagtegaal, Iris D ID

Publication Date: 2021-12-06

Variant appearance in text: MLH1: 137G>T; Ser46Ile

PubMed Link: 34873870

Variant Present in the following documents:

• CJP2-8-181.pdf

View BVdb publication page

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A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.

Scientific Reports

Magraner-Pardo, Lorena L; Laskowski, Roman A RA; Pons, Tirso T; Thornton, Janet M JM

Publication Date: 2021-07-12

Variant appearance in text: HNPCC2: S46I

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 4
• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8

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Prevalence and spectrum of DNA mismatch repair gene variation in the general Chinese population.

Journal Of Medical Genetics

Zhang, Li L; Qin, Zixin Z; Huang, Teng T; Tam, Benjamin B; Ruan, Yongsen Y; Guo, Maoni M; Wu, Xiaobing X; Li, Jiaheng J; Zhao, Bojin B; Chian, Jia Sheng JS; Wang, Xiaoyu X; Wang, Lei L; Wang, San Ming SM

Publication Date: 2022-07

Variant appearance in text: MLH1: 137G>T; Ser46Ile; rs63749833

PubMed Link: 34172528

Variant Present in the following documents:

• jmedgenet-2021-107886supp006.xlsx, sheet 1

View BVdb publication page

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Prevalence and Prognosis of Lynch Syndrome and Sporadic Mismatch Repair Deficiency in Endometrial Cancer.

Journal Of The National Cancer Institute

Post, Cathalijne C B CCB; Stelloo, Ellen E; Smit, Vincent T H B M VTHBM; Ruano, Dina D; Tops, Carli M CM; Vermij, Lisa L; Rutten, Tessa A TA; Jürgenliemk-Schulz, Ina M IM; Lutgens, Ludy C H W LCHW; Jobsen, Jan J JJ; Nout, Remi A RA; Crosbie, Emma J EJ; Powell, Melanie E ME; Mileshkin, Linda L; Leary, Alexandra A; Bessette, Paul P; Putter, Hein H; de Boer, Stephanie M SM; Horeweg, Nanda N; Nielsen, Maartje M; Wezel, Tom van TV; Bosse, Tjalling T; Creutzberg, Carien L CL

Publication Date: 2021-09-04

Variant appearance in text: MLH1: 137G>T; Ser46Ile

PubMed Link: 33693762

Variant Present in the following documents:

• djab029.pdf

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: MLH1: S46I

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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Inactivation of DNA mismatch repair by variants of uncertain significance in the PMS2 gene.

Human Mutation

Drost, Mark M; Koppejan, Hester H; de Wind, Niels N

Publication Date: 2013-11

Variant appearance in text: MLH1: 137G>T; S46I

PubMed Link: 24027009

Variant Present in the following documents:

• Main text

View BVdb publication page

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Missense mutations of MLH1 and MSH2 genes detected in patients with gastrointestinal cancer are associated with exonic splicing enhancers and silencers.

Oncology Letters

Zhu, Ming M; Chen, Hui-Mei HM; Wang, Ya-Ping YP

Publication Date: 2013-05

Variant appearance in text: MLH1: 137G>T; Ser46Ile

PubMed Link: 23760103

Variant Present in the following documents:

• Main text
• ol-05-05-1710.pdf

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Hereditary colorectal cancer in china.

Hereditary Cancer In Clinical Practice

Shu, Zheng Z; Yanqin, Huang H; Ying, Yuan Y

Publication Date: 2005-11-15

Variant appearance in text: MLH1: 137G>T

PubMed Link: 20223042

Variant Present in the following documents:

• Main text

View BVdb publication page

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