Publications:

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Two novel and one known pathogenic germline mutations in MMRs in Chinese families with Lynch syndrome.

Genes & Diseases

Li, Juyi J; Zhu, Lin L; Li, Yuanyuan Y; Huang, Hui H; Huang, Kaiyu K; Deng, Aiping A

Publication Date: 2022-03

Variant appearance in text: MSH2: S743L; rs63751155

PubMed Link: 35224146

Variant Present in the following documents:

• Main text
• main.pdf

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Mutational landscape of circulating tumor DNA identifies distinct molecular features associated with therapeutic response in patients with metastatic colorectal cancer.

Therapeutic Advances In Medical Oncology

Shi, Min M; Yuan, Hong H; Ji, Jun J; Zhang, Shouwei S; Li, Qingyuan Q; Chen, Yawei Y; Gong, Xiaoli X; Zhu, Zhenggang Z; Zhang, Jun J

Publication Date: 2022

Variant appearance in text: rs63751155

PubMed Link: 35096147

Variant Present in the following documents:

• sj-xls-4-tam-10.1177_17588359211070643.xls, sheet 1

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Quantifying prediction of pathogenicity for within-codon concordance (PM5) using 7541 functional classifications of BRCA1 and MSH2 missense variants.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Loong, Lucy L; Cubuk, Cankut C; Choi, Subin S; Allen, Sophie S; Torr, Beth B; Garrett, Alice A; Loveday, Chey C; Durkie, Miranda M; Callaway, Alison A; Burghel, George J GJ; Drummond, James J; Robinson, Rachel R; Berry, Ian R IR; Wallace, Andrew A; Eccles, Diana M DM; Tischkowitz, Marc M; Ellard, Sian S; Ware, James S JS; Hanson, Helen H; Turnbull, Clare C; ,

Publication Date: 2022-03

Variant appearance in text: MSH2: 2228C>T; Ser743Leu

PubMed Link: 34906453

Variant Present in the following documents:

• mmc1.xlsx, sheet 3

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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: MSH2: 2228C>T; S743L

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: rs63751155

PubMed Link: 34172528

Variant Present in the following documents:

• jmedgenet-2021-107886supp006.xlsx, sheet 2

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Clinically Actionable Insights into Initial and Matched Recurrent Glioblastomas to Inform Novel Treatment Approaches.

Journal Of Oncology

Ellis, H P HP; McInerney, C E CE; Schrimpf, D D; Sahm, F F; Stupnikov, A A; Wadsley, M M; Wragg, C C; White, P P; Prise, K M KM; McArt, D G DG; Kurian, K M KM

Publication Date: 2019

Variant appearance in text: rs63751155

PubMed Link: 32082376

Variant Present in the following documents:

• Main text
• JO2019-4878547.pdf

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Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports

Šimčíková, Daniela D; Heneberg, Petr P

Publication Date: 2019-12-09

Variant appearance in text: MSH2: S743L

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8

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Colon and endometrial cancers with mismatch repair deficiency can arise from somatic, rather than germline, mutations.

Gastroenterology

Haraldsdottir, Sigurdis S; Hampel, Heather H; Tomsic, Jerneja J; Frankel, Wendy L WL; Pearlman, Rachel R; de la Chapelle, Albert A; Pritchard, Colin C CC

Publication Date: 2014-12

Variant appearance in text: MSH2: 2228C>T

PubMed Link: 25194673

Variant Present in the following documents:

• Main text

View BVdb publication page

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