MSH2 c.118G>A ;(p.G40S)

Variant ID: 2-47630448-G-A

NM_000251.2(MSH2):c.118G>A;(p.G40S)

This variant was identified in 24 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: 118G>A; Gly40Ser; rs63751260
PubMed Link: 36922933
Variant Present in the following documents:
  • crc-22-0136-s01.xlsx, sheet 1
View BVdb publication page



Rare germline variants in pancreatic cancer and multiple primary cancers: an autopsy study.

European Journal Of Cancer Prevention : The Official Journal Of The European Cancer Prevention Organisation (Ecp)
Fujitani, Hiroo H; Eguchi, Hidetaka H; Kochi, Yuta Y; Arai, Tomio T; Muramatsu, Masaaki M; Okazaki, Yasushi Y
Publication Date: 2023-03-02

Variant appearance in text: MSH2: 118G>A; Gly40Ser; rs63751260
PubMed Link: 36896836
Variant Present in the following documents:
  • ejcp-32-286-s002.pdf
View BVdb publication page



Genome-Wide Association Study Identifies Candidate Loci Associated with Opioid Analgesic Requirements in the Treatment of Cancer Pain.

Cancers
Nishizawa, Daisuke D; Terui, Takeshi T; Ishitani, Kunihiko K; Kasai, Shinya S; Hasegawa, Junko J; Nakayama, Kyoko K; Ebata, Yuko Y; Ikeda, Kazutaka K
Publication Date: 2022-09-27

Variant appearance in text: rs63751260
PubMed Link: 36230616
Variant Present in the following documents:
  • cancers-14-04692.pdf
View BVdb publication page



Prognostication of early-onset endometrioid endometrial cancer based on genome-wide DNA methylation profiles.

Journal Of Gynecologic Oncology
Hirano, Takuro T; Arai, Eri E; Fujimoto, Mao M; Nakayama, Yuji Y; Tian, Ying Y; Ito, Nanako N; Makabe, Takeshi T; Yamagami, Wataru W; Susumu, Nobuyuki N; Aoki, Daisuke D; Kanai, Yae Y
Publication Date: 2022-11

Variant appearance in text: MSH2: 118G>A; Gly40Ser
PubMed Link: 36047377
Variant Present in the following documents:
  • jgo-33-e74-s005.xls, sheet 1
View BVdb publication page



Germline pathogenic variants in unselected Korean men with prostate cancer.

Investigative And Clinical Urology
So, Min-Kyung MK; Ahn, Hyun Kyu HK; Huh, Jungwon J; Kim, Kwang Hyun KH
Publication Date: 2022-05

Variant appearance in text: MSH2: 118G>A; Gly40Ser; rs63751260
PubMed Link: 35534218
Variant Present in the following documents:
  • icu-63-294-s001.xls, sheet 1
View BVdb publication page



Clinical relevance of pathogenic germline variants in mismatch repair genes in Chinese breast cancer patients.

Npj Breast Cancer
Hu, Li L; Sun, Jie J; Li, Zhongwu Z; Qu, Ziwei Z; Liu, Yan Y; Wan, Qiting Q; Liu, Jiaming J; Ding, Xinyun X; Zang, Fan F; Zhang, Juan J; Yao, Lu L; Xu, Ye Y; Wang, Yin Y; Xie, Yuntao Y
Publication Date: 2022-04-21

Variant appearance in text: MSH2: 118G>A; G40S; rs63751260
PubMed Link: 35449176
Variant Present in the following documents:
  • 41523_2022_417_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Clinical utility of comprehensive genomic profiling in Japan: Result of PROFILE-F study.

Plos One
Aoyagi, Yasuko Y; Kano, Yoshihito Y; Tohyama, Kohki K; Matsudera, Shotaro S; Kumaki, Yuichi Y; Takahashi, Kenta K; Mitsumura, Takahiro T; Harada, Yohei Y; Sato, Akemi A; Nakamura, Hideaki H; Sueoka, Eisaburo E; Aragane, Naoko N; Kimura, Koichiro K; Onishi, Iichiro I; Takemoto, Akira A; Akahoshi, Keiichi K; Ono, Hiroaki H; Ishikawa, Toshiaki T; Tokunaga, Masanori M; Nakagawa, Tsuyoshi T; Oshima, Noriko N; Nakamura, Reiko R; Takagi, Masatoshi M; Asakage, Takahiro T; Uetake, Hiroyuki H; Tanabe, Minoru M; Miyake, Satoshi S; Kinugasa, Yusuke Y; Ikeda, Sadakatsu S
Publication Date: 2022

Variant appearance in text: MSH2: G40S
PubMed Link: 35358259
Variant Present in the following documents:
  • pone.0266112.s001.xlsx, sheet 1
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: 118G>A; Gly40Ser
PubMed Link: 34906453
Variant Present in the following documents:
  • mmc1.xlsx, sheet 3
View BVdb publication page



Germline DNA damage repair gene mutations in pancreatic cancer patients with personal/family histories of pancreas/breast/ovarian/prostate cancer in a Japanese population.

Annals Of Gastroenterological Surgery
Hata, Tatsuo T; Mizuma, Masamichi M; Motoi, Fuyuhiko F; Ishida, Masaharu M; Ohtsuka, Hideo H; Nakagawa, Kei K; Morikawa, Takanori T; Furukawa, Toru T; Unno, Michiaki M
Publication Date: 2021-11

Variant appearance in text: MSH2: 118G>A; Gly40Ser
PubMed Link: 34755017
Variant Present in the following documents:
  • Main text
  • AGS3-5-853.pdf
View BVdb publication page



NUDT15 variants confer high incidence of second malignancies in children with acute lymphoblastic leukemia.

Blood Advances
Yoshida, Masanori M; Nakabayashi, Kazuhiko K; Yang, Wentao W; Sato-Otsubo, Aiko A; Tsujimoto, Shin-Ichi SI; Ogata-Kawata, Hiroko H; Kawai, Tomoko T; Ishiwata, Keisuke K; Sakamoto, Mika M; Okamura, Kohji K; Yoshida, Kaoru K; Shirai, Ryota R; Osumi, Tomoo T; Moriyama, Takaya T; Nishii, Rina R; Takahashi, Hiroyuki H; Kiyotani, Chikako C; Shioda, Yoko Y; Terashima, Keita K; Ishimaru, Sae S; Yuza, Yuki Y; Takagi, Masatoshi M; Arakawa, Yuki Y; Kinoshita, Akitoshi A; Hino, Moeko M; Imamura, Toshihiko T; Hasegawa, Daisuke D; Nakazawa, Yozo Y; Okuya, Mayuko M; Kakuda, Harumi H; Takasugi, Nao N; Inoue, Akiko A; Ohki, Kentaro K; Yoshioka, Takako T; Ito, Shuichi S; Tomizawa, Daisuke D; Koh, Katsuyoshi K; Matsumoto, Kimikazu K; Sanada, Masashi M; Kiyokawa, Nobutaka N; Ohara, Akira A; Ogawa, Seishi S; Manabe, Atsushi A; Niwa, Akira A; Hata, Kenichiro K; Yang, Jun J JJ; Kato, Motohiro M
Publication Date: 2021-12-14

Variant appearance in text: MSH2: G40S
PubMed Link: 34662904
Variant Present in the following documents:
  • advancesADV2021005507-suppl1.pdf
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: G40S; rs63751260
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 4
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 2
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



Genomic profiling reveals heterogeneous populations of ductal carcinoma in situ of the breast.

Communications Biology
Nagasawa, Satoi S; Kuze, Yuta Y; Maeda, Ichiro I; Kojima, Yasuyuki Y; Motoyoshi, Ai A; Onishi, Tatsuya T; Iwatani, Tsuguo T; Yokoe, Takamichi T; Koike, Junki J; Chosokabe, Motohiro M; Kubota, Manabu M; Seino, Hibiki H; Suzuki, Ayako A; Seki, Masahide M; Tsuchihara, Katsuya K; Inoue, Eisuke E; Tsugawa, Koichiro K; Ohta, Tomohiko T; Suzuki, Yutaka Y
Publication Date: 2021-04-01

Variant appearance in text: MSH2: G40S; rs63751260
PubMed Link: 33795819
Variant Present in the following documents:
  • 42003_2021_1959_MOESM10_ESM.xlsx, sheet 1
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: G40S
PubMed Link: 31819097
Variant Present in the following documents:
  • 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



Germline mutations in cancer-predisposition genes in patients with biliary tract cancer.

Oncotarget
Terashima, Takeshi T; Umemoto, Kumiko K; Takahashi, Hideaki H; Hosoi, Hiroko H; Takai, Erina E; Kondo, Shunsuke S; Sakamoto, Yasunari Y; Mitsunaga, Shuichi S; Ohno, Izumi I; Hashimoto, Yusuke Y; Sasaki, Mitsuhito M; Ikeda, Masafumi M; Shimada, Kazuaki K; Kaneko, Shuichi S; Yachida, Shinichi S; Sugano, Kokichi K; Okusaka, Takuji T; Morizane, Chigusa C
Publication Date: 2019-10-15

Variant appearance in text: MSH2: 118G>A; Gly40Ser; rs63751260
PubMed Link: 31666926
Variant Present in the following documents:
  • oncotarget-10-5949-s002.xlsx, sheet 1
View BVdb publication page



Germline mismatch repair gene variants analyzed by universal sequencing in Japanese cancer patients.

Cancer Medicine
Kiyozumi, Yoshimi Y; Matsubayashi, Hiroyuki H; Horiuchi, Yasue Y; Higashigawa, Satomi S; Oishi, Takuma T; Abe, Masato M; Ohnami, Sumiko S; Urakami, Kenichi K; Nagashima, Takeshi T; Kusuhara, Masatoshi M; Miyake, Hidehiko H; Yamaguchi, Ken K
Publication Date: 2019-09

Variant appearance in text: MSH2: 118G>A; Gly40Ser; rs63751260
PubMed Link: 31386297
Variant Present in the following documents:
  • CAM4-8-5534-s001.xlsx, sheet 1
View BVdb publication page



Toward automation of germline variant curation in clinical cancer genetics.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Ravichandran, Vignesh V; Shameer, Zarina Z; Kemel, Yelena Y; Walsh, Michael M; Cadoo, Karen K; Lipkin, Steven S; Mandelker, Diana D; Zhang, Liying L; Stadler, Zsofia Z; Robson, Mark M; Offit, Kenneth K; Vijai, Joseph J
Publication Date: 2019-09

Variant appearance in text: MSH2: 118G>A; Gly40Ser
PubMed Link: 30787465
Variant Present in the following documents:
  • NIHMS1525468-supplement-Large_Excel_File.xlsx, sheet 6
View BVdb publication page



Targeted sequencing of established and candidate colorectal cancer genes in the Colon Cancer Family Registry Cohort.

Oncotarget
Raskin, Leon L; Guo, Yan Y; Du, Liping L; Clendenning, Mark M; Rosty, Christophe C; , ; Lindor, Noralane M NM; Gruber, Stephen B SB; Buchanan, Daniel D DD
Publication Date: 2017-11-07

Variant appearance in text: MSH2: G40S; rs63751260
PubMed Link: 29212164
Variant Present in the following documents:
  • oncotarget-08-93450-s002.xlsx, sheet 1
View BVdb publication page



Whole-exome sequencing reveals genetic variants in ERC1 and KCNG4 associated with complete hydatidiform mole in Chinese Han women.

Oncotarget
Yu, Yan Y; Lu, Bingjian B; Lu, Weiguo W; Li, Shuang S; Li, Xiuqin X; Wang, Xinyu X; Wan, Xiaoyun X; Chen, Yaxia Y; Feng, Suwen S; Jia, Yao Y; Yang, Ru R; Tang, Fangxu F; Li, Xiong X; Zhang, Shulan S; Wang, Xinyan X; Wei, Heng H; Peng, Zhilan Z; Lu, Lin L; Zhong, Huizhen H; Zhao, Linjun L; Huang, Zhangqian Z; Lin, Lin L; Shen, Weihong W; Lu, Yan Y; Cao, Zhu Z; Zou, Jian J; Ma, Yuejiang Y; Chen, Xiaojing X; Tian, Qifang Q; Lu, Shiming S; Liu, Pengyuan P; Ma, Ding D; Xie, Xing X; Cheng, Xiaodong X
Publication Date: 2017-09-26

Variant appearance in text: MSH2: G40S
PubMed Link: 29088863
Variant Present in the following documents:
  • oncotarget-08-75264-s003.xls, sheet 1
View BVdb publication page



Findings of a 1303 Korean whole-exome sequencing study.

Experimental & Molecular Medicine
Kwak, Soo Heon SH; Chae, Jeesoo J; Choi, Seongmin S; Kim, Min Jung MJ; Choi, Murim M; Chae, Jong-Hee JH; Cho, Eun-Hae EH; Hwang, Tai Ju TJ; Jang, Se Song SS; Kim, Jong-Il JI; Park, Kyong Soo KS; Bang, Yung-Jue YJ
Publication Date: 2017-07-14

Variant appearance in text: MSH2: G40S
PubMed Link: 28706299
Variant Present in the following documents:
  • emm2017142x4.xls, sheet 1
  • emm2017142x5.xls, sheet 1
View BVdb publication page



Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S
Publication Date: 2017-10

Variant appearance in text: MSH2: 118G>A; Gly40Ser
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
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: G40S
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



Total colectomy for multiple metachronous colon cancers in a patient with Lynch syndrome.

Surgical Case Reports
Kochi, Masatoshi M; Shimomura, Manabu M; Hinoi, Takao T; Niitsu, Hiroaki H; Yano, Takuya T; Mukai, Shoichiro S; Sawada, Hiroyuki H; Miguchi, Masashi M; Saito, Yasufumi Y; Adachi, Tomohiro T; Ishizaki, Yasuyo Y; Egi, Hiroyuki H; Ohdan, Hideki H
Publication Date: 2015-12

Variant appearance in text: MSH2: G40S
PubMed Link: 26380806
Variant Present in the following documents:
  • Main text
  • 40792_2015_Article_81.pdf
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: G40S
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 3
View BVdb publication page



Microsatellite instability at tetranucleotide repeats in sporadic colorectal cancer in Japan.

Oncology Reports
Yamada, Kanae K; Kanazawa, Shinsaku S; Koike, Junichi J; Sugiyama, Hisahiko H; Xu, Can C; Funahashi, Kimihiko K; Boland, C Richard CR; Koi, Minoru M; Hemmi, Hiromichi H
Publication Date: 2010-02

Variant appearance in text: MSH2: G40S
PubMed Link: 20043121
Variant Present in the following documents:
  • Main text
View BVdb publication page