MLH1 c.453+1G>T

Variant ID: 3-37048555-G-T

NM_000249.3(MLH1):c.453+1G>T

This variant was identified in 7 publications

View GRCh38 version.




Publications:


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: MLH1: 453+1G>T
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
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: MLH1: 453+1G>T; rs267607750
PubMed Link: 34172528
Variant Present in the following documents:
  • jmedgenet-2021-107886supp006.xlsx, sheet 1
View BVdb publication page



Comparison of long-term outcomes between Lynch sydrome and sporadic colorectal cancer: a propensity score matching analysis.

Bmc Cancer
Xu, Yun Y; Li, Cong C; Zheng, Charlie Zhi-Lin CZ; Zhang, Yu-Qin YQ; Guo, Tian-An TA; Liu, Fang-Qi FQ; Xu, Ye Y
Publication Date: 2021-01-09

Variant appearance in text: MLH1: 453+1G>T
PubMed Link: 33422027
Variant Present in the following documents:
  • Main text
  • 12885_2020_Article_7771.pdf
View BVdb publication page



Germline mutations in the spindle assembly checkpoint genes BUB1 and BUB3 are infrequent in familial colorectal cancer and polyposis.

Molecular Cancer
Mur, Pilar P; De Voer, Richarda M RM; Olivera-Salguero, Rubén R; Rodríguez-Perales, Sandra S; Pons, Tirso T; Setién, Fernando F; Aiza, Gemma G; Valdés-Mas, Rafael R; Bertini, Angelo A; Pineda, Marta M; Vreede, Lilian L; Navarro, Matilde M; Iglesias, Silvia S; González, Sara S; Brunet, Joan J; Valencia, Alfonso A; Esteller, Manel M; Lázaro, Conxi C; Kops, Geert J P L GJPL; Urioste, Miguel M; Puente, Xose S XS; Capellá, Gabriel G; Valle, Laura L
Publication Date: 2018-02-15

Variant appearance in text: MLH1: 453+1G>T
PubMed Link: 29448935
Variant Present in the following documents:
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: MLH1: 453+1G>T
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Susswein, Lisa R LR; Marshall, Megan L ML; Nusbaum, Rachel R; Vogel Postula, Kristen J KJ; Weissman, Scott M SM; Yackowski, Lauren L; Vaccari, Erica M EM; Bissonnette, Jeffrey J; Booker, Jessica K JK; Cremona, M Laura ML; Gibellini, Federica F; Murphy, Patricia D PD; Pineda-Alvarez, Daniel E DE; Pollevick, Guido D GD; Xu, Zhixiong Z; Richard, Gabi G; Bale, Sherri S; Klein, Rachel T RT; Hruska, Kathleen S KS; Chung, Wendy K WK
Publication Date: 2016-08

Variant appearance in text: MLH1: 453+1G>T
PubMed Link: 26681312
Variant Present in the following documents:
View BVdb publication page



Candidate colorectal cancer predisposing gene variants in Chinese early-onset and familial cases.

World Journal Of Gastroenterology
Zhang, Jun-Xiao JX; Fu, Lei L; de Voer, Richarda M RM; Hahn, Marc-Manuel MM; Jin, Peng P; Lv, Chen-Xi CX; Verwiel, Eugène Tp ET; Ligtenberg, Marjolijn Jl MJ; Hoogerbrugge, Nicoline N; Kuiper, Roland P RP; Sheng, Jian-Qiu JQ; Geurts van Kessel, Ad A
Publication Date: 2015-04-14

Variant appearance in text: MLH1: 453+1G>T
PubMed Link: 25892863
Variant Present in the following documents:
  • Main text
View BVdb publication page