Publications:

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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: 1059G>T; K353N

PubMed Link: 34906453

Variant Present in the following documents:

• mmc1.xlsx, sheet 3

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Characterization of colibactin-associated mutational signature in an Asian oral squamous cell carcinoma and in other mucosal tumor types.

Genome Research

Boot, Arnoud A; Ng, Alvin W T AWT; Chong, Fui Teen FT; Ho, Szu-Chi SC; Yu, Willie W; Tan, Daniel S W DSW; Iyer, N Gopalakrishna NG; Rozen, Steven G SG

Publication Date: 2020-06

Variant appearance in text: MSH2: K353N

PubMed Link: 32661091

Variant Present in the following documents:

• supp_gr.255620.119_Supplemental_Table_S2.xlsx, sheet 1

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Diversity spectrum analysis identifies mutation-specific effects of cancer driver genes.

Communications Biology

Dong, Xiaobao X; Huang, Dandan D; Yi, Xianfu X; Zhang, Shijie S; Wang, Zhao Z; Yan, Bin B; Chung Sham, Pak P; Chen, Kexin K; Jun Li, Mulin M

Publication Date: 2020-01-07

Variant appearance in text: MSH2: 1059G>T; K353N

PubMed Link: 31925297

Variant Present in the following documents:

• 42003_2019_736_MOESM3_ESM.xlsx, sheet 1

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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: K353N

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8

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Cytolytic activity correlates with the mutational burden and deregulated expression of immune checkpoints in colorectal cancer.

Journal Of Experimental & Clinical Cancer Research : Cr

Zaravinos, Apostolos A; Roufas, Constantinos C; Nagara, Majdi M; de Lucas Moreno, Beatriz B; Oblovatskaya, Maria M; Efstathiades, Christodoulos C; Dimopoulos, Christos C; Ayiomamitis, Georgios D GD

Publication Date: 2019-08-20

Variant appearance in text: MSH2: 1059G>T; Lys353Asn

PubMed Link: 31429779

Variant Present in the following documents:

• 13046_2019_1372_MOESM18_ESM.xlsx, sheet 2

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Replicative DNA polymerase mutations in cancer.

Current Opinion In Genetics & Development

Heitzer, Ellen E; Tomlinson, Ian I

Publication Date: 2014-02

Variant appearance in text: MSH2: K353N

PubMed Link: 24583393

Variant Present in the following documents:

• main.pdf

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