MSH2 c.560T>C ;(p.L187P)

Variant ID: 2-47637426-T-C

NM_000251.2(MSH2):c.560T>C;(p.L187P)

This variant was identified in 23 publications

View GRCh38 version.




Publications:


Whole-exome Sequencing of Nigerian Prostate Tumors from the Prostate Cancer Transatlantic Consortium (CaPTC) Reveals DNA Repair Genes Associated with African Ancestry.

Cancer Research Communications
White, Jason A JA; Kaninjing, Ernest T ET; Adeniji, Kayode A KA; Jibrin, Paul P; Obafunwa, John O JO; Ogo, Chidiebere N CN; Mohammed, Faruk F; Popoola, Ademola A; Fatiregun, Omolara A OA; Oluwole, Olabode P OP; Karanam, Balasubramanyam B; Elhussin, Isra I; Ambs, Stefan S; Tang, Wei W; Davis, Melissa M; Polak, Paz P; Campbell, Moray J MJ; Brignole, Kathryn R KR; Rotimi, Solomon O SO; Dean-Colomb, Windy W; Odedina, Folake T FT; Martin, Damali N DN; Yates, Clayton C
Publication Date: 2022-09

Variant appearance in text: MSH2: 560T>C; L187P; rs63751444
PubMed Link: 36922933
Variant Present in the following documents:
  • crc-22-0136-s01.xlsx, sheet 1
View BVdb publication page



Evaluation of AlphaFold structure-based protein stability prediction on missense variations in cancer.

Frontiers In Genetics
Keskin Karakoyun, Hilal H; Yüksel, Şirin K ŞK; Amanoglu, Ilayda I; Naserikhojasteh, Lara L; Yeşilyurt, Ahmet A; Yakıcıer, Cengiz C; Timuçin, Emel E; Akyerli, Cemaliye B CB
Publication Date: 2023

Variant appearance in text: MSH2: L187P
PubMed Link: 36896237
Variant Present in the following documents:
  • Table1.xlsx, sheet 1
View BVdb publication page



Integration of deep learning with Ramachandran plot molecular dynamics simulation for genetic variant classification.

Iscience
Tam, Benjamin B; Qin, Zixin Z; Zhao, Bojin B; Wang, San Ming SM; Lei, Chon Lok CL
Publication Date: 2023-03-17

Variant appearance in text: MSH2: 560T>C; L187P
PubMed Link: 36879825
Variant Present in the following documents:
  • mmc4.xlsx, sheet 3
  • mmc2.xlsx, sheet 3
  • mmc3.xlsx, sheet 3
View BVdb publication page



Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23

Variant appearance in text: MSH2: 560T>C; Leu187Pro
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Saturation-scale functional evidence supports clinical variant interpretation in Lynch syndrome.

Genome Biology
Scott, Anthony A; Hernandez, Felicia F; Chamberlin, Adam A; Smith, Cathy C; Karam, Rachid R; Kitzman, Jacob O JO
Publication Date: 2022-12-22

Variant appearance in text: MSH2: 560T>C; L187P
PubMed Link: 36550560
Variant Present in the following documents:
  • 13059_2022_2839_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Characterization of sebaceous and non-sebaceous cutaneous manifestations in patients with lynch syndrome: a systematic review.

Familial Cancer
Aziz, Shahram S; O'Sullivan, Hazel H; Heelan, Kara K; Alam, Afrina A; McVeigh, Terri P TP
Publication Date: 2022-11-23

Variant appearance in text: MSH2: 560T>C; Leu187Pro
PubMed Link: 36418753
Variant Present in the following documents:
  • 10689_2022_319_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Lynch syndrome pre-screening and comprehensive characterization in a multi-center large cohort of Chinese patients with colorectal cancer.

Cancer Biology & Medicine
Li, Yan Y; Fan, Lihong L; Zheng, Jianming J; Nie, Xiu X; Sun, Yu Y; Feng, Qin Q; Lian, Shenyi S; Bai, Wenqi W; Cai, Weijing W; Yang, Yanan Y; Su, Bo B; Xi, Yanfeng Y; Lin, Dongmei D
Publication Date: 2022-06-01

Variant appearance in text: MSH2: 560T>C; Leu187Pro
PubMed Link: 35638907
Variant Present in the following documents:
  • cbm-19-1235-s001.pdf
View BVdb publication page



Are transient protein-protein interactions more dispensable?

Plos Computational Biology
Ghadie, Mohamed Ali MA; Xia, Yu Y
Publication Date: 2022-04

Variant appearance in text: MSH2: 560T>C; Leu187Pro
PubMed Link: 35404956
Variant Present in the following documents:
  • pcbi.1010013.s002.xlsx, sheet 4
View BVdb publication page



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: 560T>C; L187P
PubMed Link: 34906453
Variant Present in the following documents:
  • mmc1.xlsx, sheet 3
View BVdb publication page



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: HNPCC1: L187P; rs63751444
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 7
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 6
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 4
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 2
View BVdb publication page



Single C-to-T substitution using engineered APOBEC3G-nCas9 base editors with minimum genome- and transcriptome-wide off-target effects.

Science Advances
Lee, Sangsin S; Ding, Ning N; Sun, Yidi Y; Yuan, Tanglong T; Li, Jing J; Yuan, Qichen Q; Liu, Lizhong L; Yang, Jie J; Wang, Qian Q; Kolomeisky, Anatoly B AB; Hilton, Isaac B IB; Zuo, Erwei E; Gao, Xue X
Publication Date: 2020-07

Variant appearance in text: MSH2: 560T>C; Leu187Pro
PubMed Link: 32832622
Variant Present in the following documents:
  • aba1773_Data_file_S1.xlsx, sheet 2
View BVdb publication page



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: L187P
PubMed Link: 31819097
Variant Present in the following documents:
  • 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



Novel Genetic Markers for Early Detection of Elevated Breast Cancer Risk in Women.

International Journal Of Molecular Sciences
Wu, Bohua B; Peng, Yunhui Y; Eggert, Julia J; Alexov, Emil E
Publication Date: 2019-09-28

Variant appearance in text: MSH2: Leu187Pro
PubMed Link: 31569399
Variant Present in the following documents:
  • Main text
  • ijms-20-04828.pdf
  • ijms-20-04828-s001.pdf
View BVdb publication page



REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.

Scientific Reports
Tian, Yuan Y; Pesaran, Tina T; Chamberlin, Adam A; Fenwick, R Bryn RB; Li, Shuwei S; Gau, Chia-Ling CL; Chao, Elizabeth C EC; Lu, Hsiao-Mei HM; Black, Mary Helen MH; Qian, Dajun D
Publication Date: 2019-09-04

Variant appearance in text: MSH2: 560T>C; L187P
PubMed Link: 31484976
Variant Present in the following documents:
  • 41598_2019_49224_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Estimating dispensable content in the human interactome.

Nature Communications
Ghadie, Mohamed M; Xia, Yu Y
Publication Date: 2019-07-19

Variant appearance in text: MSH2: 560T>C; Leu187Pro
PubMed Link: 31324802
Variant Present in the following documents:
  • 41467_2019_11180_MOESM6_ESM.xlsx, sheet 4
  • 41467_2019_11180_MOESM8_ESM.xlsx, sheet 4
View BVdb publication page



A Bayesian framework for efficient and accurate variant prediction.

Plos One
Qian, Dajun D; Li, Shuwei S; Tian, Yuan Y; Clifford, Jacob W JW; Sarver, Brice A J BAJ; Pesaran, Tina T; Gau, Chia-Ling CL; Elliott, Aaron M AM; Lu, Hsiao-Mei HM; Black, Mary Helen MH
Publication Date: 2018

Variant appearance in text: MSH2: 560T>C; L187P
PubMed Link: 30212499
Variant Present in the following documents:
  • pone.0203553.s008.xlsx, sheet 2
View BVdb publication page



Predicting the impact of Lynch syndrome-causing missense mutations from structural calculations.

Plos Genetics
Nielsen, Sofie V SV; Stein, Amelie A; Dinitzen, Alexander B AB; Papaleo, Elena E; Tatham, Michael H MH; Poulsen, Esben G EG; Kassem, Maher M MM; Rasmussen, Lene J LJ; Lindorff-Larsen, Kresten K; Hartmann-Petersen, Rasmus R
Publication Date: 2017-04

Variant appearance in text: MSH2: L187P
PubMed Link: 28422960
Variant Present in the following documents:
  • Main text
  • pgen.1006739.pdf
View BVdb publication page



Rare disruptive mutations and their contribution to the heritable risk of colorectal cancer.

Nature Communications
Chubb, Daniel D; Broderick, Peter P; Dobbins, Sara E SE; Frampton, Matthew M; Kinnersley, Ben B; Penegar, Steven S; Price, Amy A; Ma, Yussanne P YP; Sherborne, Amy L AL; Palles, Claire C; Timofeeva, Maria N MN; Bishop, D Timothy DT; Dunlop, Malcolm G MG; Tomlinson, Ian I; Houlston, Richard S RS
Publication Date: 2016-06-22

Variant appearance in text: MSH2: 560T>C; Leu187Pro
PubMed Link: 27329137
Variant Present in the following documents:
  • ncomms11883-s1.pdf
View BVdb publication page



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: HNPCC1: L187P
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25

Variant appearance in text: MSH2: L187P
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 3
View BVdb publication page



Calibration of multiple in silico tools for predicting pathogenicity of mismatch repair gene missense substitutions.

Human Mutation
Thompson, Bryony A BA; Greenblatt, Marc S MS; Vallee, Maxime P MP; Herkert, Johanna C JC; Tessereau, Chloe C; Young, Erin L EL; Adzhubey, Ivan A IA; Li, Biao B; Bell, Russell R; Feng, Bingjian B; Mooney, Sean D SD; Radivojac, Predrag P; Sunyaev, Shamil R SR; Frebourg, Thierry T; Hofstra, Robert M W RM; Sijmons, Rolf H RH; Boucher, Ken K; Thomas, Alun A; Goldgar, David E DE; Spurdle, Amanda B AB; Tavtigian, Sean V SV
Publication Date: 2013-01

Variant appearance in text: MSH2: Leu187Pro
PubMed Link: 22949387
Variant Present in the following documents:
  • Main text
View BVdb publication page



Verification of the three-step model in assessing the pathogenicity of mismatch repair gene variants.

Human Mutation
Kansikas, Minttu M; Kariola, Reetta R; Nyström, Minna M
Publication Date: 2011-01

Variant appearance in text: MSH2: 560T>C; L187P
PubMed Link: 21120944
Variant Present in the following documents:
  • humu0032-0107.pdf
View BVdb publication page



Functional analysis of human mismatch repair gene mutations identifies weak alleles and polymorphisms capable of polygenic interactions.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Martinez, Sandra L SL; Kolodner, Richard D RD
Publication Date: 2010-03-16

Variant appearance in text: MSH2: L187P
PubMed Link: 20176959
Variant Present in the following documents:
  • Main text
View BVdb publication page