Publications:

The association of blood ctDNA levels to mutations of marker genes in colorectal cancer.

Cancer Reports (Hoboken, N.J.)

Bai, Fei F; Du, Qian Q; Zou, Qingliang Q; Xu, Lin L; Dong, Wei W; Lv, Xinlin X; Han, Xiaorong X; Zhou, Huijun H; Zhang, Chi C; Lu, Tao T

Publication Date: 2023-02-06

Variant appearance in text: MSH2: E226V

PubMed Link: 36746394

Variant Present in the following documents:

• Main text
• CNR2-6-e1782.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: 677A>T; Glu226Val

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: E226V

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8

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