Publications:

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InSiGHT 2022 Abstract Publishing and Best Abstract Awards.

Familial Cancer

Publication Date: 2022-10

Variant appearance in text: MSH2: R711P

PubMed Link: 36260238

Variant Present in the following documents:

• 10689_2022_Article_312.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: 2132G>C; R711P

PubMed Link: 34906453

Variant Present in the following documents:

• mmc1.xlsx, sheet 3

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Double somatic mismatch repair gene pathogenic variants as common as Lynch syndrome among endometrial cancer patients.

Gynecologic Oncology

Hampel, Heather H; Pearlman, Rachel R; de la Chapelle, Albert A; Pritchard, Colin C CC; Zhao, Weiqiang W; Jones, Dan D; Yilmaz, Ahmet A; Chen, Wei W; Frankel, Wendy L WL; Suarez, Adrian A AA; Cosgrove, Casey C; Backes, Floor F; Copeland, Larry L; Fowler, Jeffrey J; O'Malley, David D; Salani, Ritu R; McElroy, Joseph P JP; Stanich, Peter P PP; Goodfellow, Paul P; Cohn, David E DE

Publication Date: 2021-01

Variant appearance in text: MSH2: 2132G>C

PubMed Link: 33393477

Variant Present in the following documents:

• Main text

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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: R711P

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8

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Therapy-induced mutations drive the genomic landscape of relapsed acute lymphoblastic leukemia.

Blood

Li, Benshang B; Brady, Samuel W SW; Ma, Xiaotu X; Shen, Shuhong S; Zhang, Yingchi Y; Li, Yongjin Y; Szlachta, Karol K; Dong, Li L; Liu, Yu Y; Yang, Fan F; Wang, Ningling N; Flasch, Diane A DA; Myers, Matthew A MA; Mulder, Heather L HL; Ding, Lixia L; Liu, Yanling Y; Tian, Liqing L; Hagiwara, Kohei K; Xu, Ke K; Zhou, Xin X; Sioson, Edgar E; Wang, Tianyi T; Yang, Liu L; Zhao, Jie J; Zhang, Hui H; Shao, Ying Y; Sun, Hongye H; Sun, Lele L; Cai, Jiaoyang J; Sun, Hui-Ying HY; Lin, Ting-Nien TN; Du, Lijuan L; Li, Hui H; Rusch, Michael M; Edmonson, Michael N MN; Easton, John J; Zhu, Xiaofan X; Zhang, Jingliao J; Cheng, Cheng C; Raphael, Benjamin J BJ; Tang, Jingyan J; Downing, James R JR; Alexandrov, Ludmil B LB; Zhou, Bin-Bing S BS; Pui, Ching-Hon CH; Yang, Jun J JJ; Zhang, Jinghui J

Publication Date: 2020-01-02

Variant appearance in text: MSH2: R711P

PubMed Link: 31697823

Variant Present in the following documents:

• Main text

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Screening of the DNA mismatch repair genes MLH1, MSH2 and MSH6 in a Greek cohort of Lynch syndrome suspected families.

Bmc Cancer

Thodi, Georgia G; Fostira, Florentia F; Sandaltzopoulos, Raphael R; Nasioulas, George G; Grivas, Anastasios A; Boukovinas, Ioannis I; Mylonaki, Maria M; Panopoulos, Christos C; Magic, Mirjana Brankovic MB; Fountzilas, George G; Yannoukakos, Drakoulis D

Publication Date: 2010-10-11

Variant appearance in text: MSH2: 2132G>C; Arg711Pro

PubMed Link: 20937110

Variant Present in the following documents:

• Main text
• 1471-2407-10-544.pdf

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