MSH2 c.142G>T ;(p.E48*)

Variant ID: 2-47630472-G-T

NM_000251.2(MSH2):c.142G>T;(p.E48*)

This variant was identified in 12 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: 142G>T; E48*; rs63750615
PubMed Link: 36922933
Variant Present in the following documents:
  • crc-22-0136-s01.xlsx, sheet 1
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: 142G>T; Glu48Ter
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Repurposing non-invasive prenatal testing data: Population study of single nucleotide variants associated with colorectal cancer and Lynch syndrome.

Oncology Letters
Forgacova, Natalia N; Gazdarica, Juraj J; Budis, Jaroslav J; Radvanszky, Jan J; Szemes, Tomas T
Publication Date: 2021-11

Variant appearance in text: rs63750615
PubMed Link: 34594420
Variant Present in the following documents:
  • Main text
  • ol-22-05-13040.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: MSH2: 142G>T; E48*
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 7
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 9
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 10
View BVdb publication page



Prevalence and spectrum of DNA mismatch repair gene variation in the general Chinese population.

Journal Of Medical Genetics
Zhang, Li L; Qin, Zixin Z; Huang, Teng T; Tam, Benjamin B; Ruan, Yongsen Y; Guo, Maoni M; Wu, Xiaobing X; Li, Jiaheng J; Zhao, Bojin B; Chian, Jia Sheng JS; Wang, Xiaoyu X; Wang, Lei L; Wang, San Ming SM
Publication Date: 2022-07

Variant appearance in text: MSH2: Glu48Ter; rs63750615
PubMed Link: 34172528
Variant Present in the following documents:
  • jmedgenet-2021-107886supp006.xlsx, sheet 2
View BVdb publication page



Unique Genomic Landscape of High-Grade Neuroendocrine Cervical Carcinoma: Implications for Rethinking Current Treatment Paradigms.

Jco Precision Oncology
Eskander, Ramez N RN; Elvin, Julia J; Gay, Laurie L; Ross, Jeffrey S JS; Miller, Vincent A VA; Kurzrock, Razelle R
Publication Date: 2020

Variant appearance in text: MSH2: E48*
PubMed Link: 33015532
Variant Present in the following documents:
  • PO.19.00248.pdf
View BVdb publication page



Immunogenomic analyses associate immunological alterations with mismatch repair defects in prostate cancer.

The Journal Of Clinical Investigation
Nava Rodrigues, Daniel D; Rescigno, Pasquale P; Liu, David D; Yuan, Wei W; Carreira, Suzanne S; Lambros, Maryou B MB; Seed, George G; Mateo, Joaquin J; Riisnaes, Ruth R; Mullane, Stephanie S; Margolis, Claire C; Miao, Diana D; Miranda, Susana S; Dolling, David D; Clarke, Matthew M; Bertan, Claudia C; Crespo, Mateus M; Boysen, Gunther G; Ferreira, Ana A; Sharp, Adam A; Figueiredo, Ines I; Keliher, Daniel D; Aldubayan, Saud S; Burke, Kelly P KP; Sumanasuriya, Semini S; Fontes, Mariane Sousa MS; Bianchini, Diletta D; Zafeiriou, Zafeiris Z; Teixeira Mendes, Larissa Sena LS; Mouw, Kent K; Schweizer, Michael T MT; Pritchard, Colin C CC; Salipante, Stephen S; Taplin, Mary-Ellen ME; Beltran, Himisha H; Rubin, Mark A MA; Cieslik, Marcin M; Robinson, Dan D; Heath, Elizabeth E; Schultz, Nikolaus N; Armenia, Joshua J; Abida, Wassim W; Scher, Howard H; Lord, Christopher C; D'Andrea, Alan A; Sawyers, Charles L CL; Chinnaiyan, Arul M AM; Alimonti, Andrea A; Nelson, Peter S PS; Drake, Charles G CG; Van Allen, Eliezer M EM; de Bono, Johann S JS
Publication Date: 2018-10-01

Variant appearance in text: MSH2: E48*
PubMed Link: 30179225
Variant Present in the following documents:
  • jci-128-121924-s168.xlsx, sheet 1
View BVdb publication page



Rare Tumor Clinic: The University of California San Diego Moores Cancer Center Experience with a Precision Therapy Approach.

The Oncologist
Kato, Shumei S; Kurasaki, Kellie K; Ikeda, Sadakatsu S; Kurzrock, Razelle R
Publication Date: 2018-02

Variant appearance in text: MSH2: E48*
PubMed Link: 29038235
Variant Present in the following documents:
  • supp_the2017-0199_onco12285-sup-0001-suppinfo01.pdf
View BVdb publication page



Exceptional Response to Nivolumab and Stereotactic Body Radiation Therapy (SBRT) in Neuroendocrine Cervical Carcinoma with High Tumor Mutational Burden: Management Considerations from the Center For Personalized Cancer Therapy at UC San Diego Moores Cancer Center.

The Oncologist
Sharabi, Andrew A; Kim, Sangwoo Shawn SS; Kato, Shumei S; Sanders, Philip D PD; Patel, Sandip Pravin SP; Sanghvi, Parag P; Weihe, Elizabeth E; Kurzrock, Razelle R
Publication Date: 2017-06

Variant appearance in text: MSH2: E48*
PubMed Link: 28550027
Variant Present in the following documents:
  • onco12168.pdf
View BVdb publication page



Germline mutation analysis of MLH1 and MSH2 in Malaysian Lynch syndrome patients.

World Journal Of Gastroenterology
Zahary, Mohd Nizam MN; Kaur, Gurjeet G; Abu Hassan, Muhammad Radzi MR; Singh, Harjinder H; Naik, Venkatesh R VR; Ankathil, Ravindran R
Publication Date: 2012-02-28

Variant appearance in text: MSH2: 142G>T; E48X
PubMed Link: 22371642
Variant Present in the following documents:
  • Main text
View BVdb publication page



Current clinical criteria for Lynch syndrome are not sensitive enough to identify MSH6 mutation carriers.

Journal Of Medical Genetics
Sjursen, Wenche W; Haukanes, Bjørn Ivar BI; Grindedal, Eli Marie EM; Aarset, Harald H; Stormorken, Astrid A; Engebretsen, Lars F LF; Jonsrud, Christoffer C; Bjørnevoll, Inga I; Andresen, Per Arne PA; Ariansen, Sarah S; Lavik, Liss Anne S LA; Gilde, Bodil B; Bowitz-Lothe, Inger Marie IM; Maehle, Lovise L; Møller, Pål P
Publication Date: 2010-09

Variant appearance in text: MSH2: Glu48X
PubMed Link: 20587412
Variant Present in the following documents:
  • Main text
  • jmedgenet77677.pdf
View BVdb publication page



Deficient DNA mismatch repair is common in Lynch syndrome-associated colorectal adenomas.

The Journal Of Molecular Diagnostics : Jmd
Pino, Maria Simona MS; Mino-Kenudson, Mari M; Wildemore, Bernadette Mandes BM; Ganguly, Aniruddha A; Batten, Julie J; Sperduti, Isabella I; Iafrate, Anthony John AJ; Chung, Daniel C DC
Publication Date: 2009-05

Variant appearance in text: MSH2: E48X
PubMed Link: 19324997
Variant Present in the following documents:
  • Main text
View BVdb publication page