MSH2 c.792+1G>A

Variant ID: 2-47639700-G-A

NM_000251.2(MSH2):c.792+1G>A

This variant was identified in 11 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: 792+1G>A; rs267607934
PubMed Link: 36922933
Variant Present in the following documents:
  • crc-22-0136-s01.xlsx, sheet 1
View BVdb publication page



APPLICATION OF THE ACMG/AMP FRAMEWORK TO CAPTURE EVIDENCE RELEVANT TO PREDICTED AND OBSERVED IMPACT ON SPLICING: RECOMMENDATIONS FROM THE CLINGEN SVI SPLICING SUBGROUP.

Medrxiv : The Preprint Server For Health Sciences
Walker, Logan C LC; de la Hoya, Miguel M; Wiggins, George Ar GA; Lindy, Amanda A; Vincent, Lisa M LM; Parsons, Michael M; Canson, Daffodil M DM; Bis-Brewer, Dana D; Cass, Ashley A; Tchourbanov, Alexander A; Zimmermann, Heather H; Byrne, Alicia B AB; Pesaran, Tina T; Karam, Rachid R; Harrison, Steven M SM; , ; Spurdle, Amanda B AB
Publication Date: 2023-02-26

Variant appearance in text: MSH2: 792+1G>A
PubMed Link: 36865205
Variant Present in the following documents:
  • media-10.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: 792+1G>A
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: 792+1G>A
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: 792+1G>A
PubMed Link: 36418753
Variant Present in the following documents:
  • 10689_2022_319_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Contribution of mRNA Splicing to Mismatch Repair Gene Sequence Variant Interpretation.

Frontiers In Genetics
Thompson, Bryony A BA; Walters, Rhiannon R; Parsons, Michael T MT; Dumenil, Troy T; Drost, Mark M; Tiersma, Yvonne Y; Lindor, Noralane M NM; Tavtigian, Sean V SV; de Wind, Niels N; Spurdle, Amanda B AB; ,
Publication Date: 2020

Variant appearance in text: MSH2: 792+1G>A
PubMed Link: 32849802
Variant Present in the following documents:
  • Data_Sheet_1.xlsx, sheet 3
View BVdb publication page



Hereditary Predisposition to Prostate Cancer: From Genetics to Clinical Implications.

International Journal Of Molecular Sciences
Brandão, Andreia A; Paulo, Paula P; Teixeira, Manuel R MR
Publication Date: 2020-07-16

Variant appearance in text: MSH2: 792+1G>A
PubMed Link: 32708810
Variant Present in the following documents:
  • ijms-21-05036-s001.pdf
View BVdb publication page



Mutation analysis of related genes in hamartoma polyp tissue of Peutz-Jeghers syndrome.

World Journal Of Gastroenterology
Zhang, Zhi Z; Duan, Fu-Xiao FX; Gu, Guo-Li GL; Yu, Peng-Fei PF
Publication Date: 2020-04-28

Variant appearance in text: MSH2: 792+1G>A
PubMed Link: 32390703
Variant Present in the following documents:
  • Main text
  • WJG-26-1926.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: 792+1G>A
PubMed Link: 27329137
Variant Present in the following documents:
  • ncomms11883-s1.pdf
View BVdb publication page



Screening for germline mismatch repair mutations following diagnosis of sebaceous neoplasm.

Jama Dermatology
Everett, Jessica N JN; Raymond, Victoria M VM; Dandapani, Monica M; Marvin, Monica M; Kohlmann, Wendy W; Chittenden, Anu A; Koeppe, Erika E; Gustafson, Shanna L SL; Else, Tobias T; Fullen, Douglas R DR; Johnson, Timothy M TM; Syngal, Sapna S; Gruber, Stephen B SB; Stoffel, Elena M EM
Publication Date: 2014-12

Variant appearance in text: MSH2: 792+1G>A
PubMed Link: 25006859
Variant Present in the following documents:
  • Main text
View BVdb publication page



Adrenocortical carcinoma is a lynch syndrome-associated cancer.

Journal Of Clinical Oncology : Official Journal Of The American Society Of Clinical Oncology
Raymond, Victoria M VM; Everett, Jessica N JN; Furtado, Larissa V LV; Gustafson, Shanna L SL; Jungbluth, Chelsy R CR; Gruber, Stephen B SB; Hammer, Gary D GD; Stoffel, Elena M EM; Greenson, Joel K JK; Giordano, Thomas J TJ; Else, Tobias T
Publication Date: 2013-08-20

Variant appearance in text: MSH2: 792+1G>A
PubMed Link: 23752102
Variant Present in the following documents:
  • Main text
View BVdb publication page