Publications:

Identification of Genomic Alterations in Thai Patients With Colorectal Cancer Using Next-Generation Sequencing-Based Multigene Cancer Panel.

Cureus

Jinda, Worapoj W; Moungthard, Hathaiwan H; Limwongse, Chanin C; Pithukpakorn, Manop M; Saelee, Pensri P; Pokkasup, Nareerat N; Khunpukdee, Saipan S; Sukthaworn, Suchitraporn S; Jumpasri, Jaruphan J

Publication Date: 2023-05

Variant appearance in text: MSH2: 554C>G; Ser185Cys; rs878853819

PubMed Link: 37323311

Variant Present in the following documents:

• Main text
• cureus-0015-00000039067.pdf

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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: 554C>G; Ser185Cys

PubMed Link: 34906453

Variant Present in the following documents:

• mmc1.xlsx, sheet 3

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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: S185C

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8

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Unexpected cancer-predisposition gene variants in Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome patients without underlying germline PTEN mutations.

Plos Genetics

Yehia, Lamis L; Ni, Ying Y; Sesock, Kaitlin K; Niazi, Farshad F; Fletcher, Benjamin B; Chen, Hannah Jin Lian HJL; LaFramboise, Thomas T; Eng, Charis C

Publication Date: 2018-04

Variant appearance in text: MSH2: S185C

PubMed Link: 29684080

Variant Present in the following documents:

• pgen.1007352.s010.xlsx, sheet 1

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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: MSH2: S185C

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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