PMS1 c.-21+639G>A

Variant ID: 2-190649958-G-A

NM_000534.5(PMS1):c.-21+639G>A

This variant was identified in 9 publications

View GRCh38 version.




Publications:


Case Report: Primary Leptomeningeal Medulloblastoma in a Child: Clinical Case Report and Literature Review.

Frontiers In Pediatrics
Morgacheva, Daria D; Daks, Alexandra A; Smirnova, Anna A; Kim, Aleksandr A; Ryzhkova, Daria D; Mitrofanova, Lubov L; Staliarova, Alena A; Omelina, Evgeniya E; Pindyurin, Alexey A; Fedorova, Olga O; Shuvalov, Oleg O; Petukhov, Alexey A; Dinikina, Yulia Y
Publication Date: 2022

Variant appearance in text: rs5742938
PubMed Link: 35899134
Variant Present in the following documents:
  • Table_1.xlsx, sheet 1
View BVdb publication page



Genetic variants modulate gene expression statin response in human lymphoblastoid cell lines.

Bmc Genomics
Theusch, Elizabeth E; Chen, Yii-Der I YI; Rotter, Jerome I JI; Krauss, Ronald M RM; Medina, Marisa W MW
Publication Date: 2020-08-12

Variant appearance in text: rs5742938
PubMed Link: 32787775
Variant Present in the following documents:
  • Main text
View BVdb publication page



DNA Mismatch Repair Gene Variants in Sporadic Solid Cancers.

International Journal Of Molecular Sciences
Caja, Fabian F; Vodickova, Ludmila L; Kral, Jan J; Vymetalkova, Veronika V; Naccarati, Alessio A; Vodicka, Pavel P
Publication Date: 2020-08-03

Variant appearance in text: PMS1: -21+639G>A; rs5742938
PubMed Link: 32756484
Variant Present in the following documents:
  • Main text
  • ijms-21-05561.pdf
View BVdb publication page



Systematic review and meta-analysis of esophageal cancer in Africa: Epidemiology, risk factors, management and outcomes.

World Journal Of Gastroenterology
Asombang, Akwi W AW; Chishinga, Nathaniel N; Nkhoma, Alick A; Chipaila, Jackson J; Nsokolo, Bright B; Manda-Mapalo, Martha M; Montiero, Joao Filipe G JFG; Banda, Lewis L; Dua, Kulwinder S KS
Publication Date: 2019-08-21

Variant appearance in text: rs5742938
PubMed Link: 31496629
Variant Present in the following documents:
  • Main text
View BVdb publication page



Systematic Review of Genetic Factors in the Etiology of Esophageal Squamous Cell Carcinoma in African Populations.

Frontiers In Genetics
Simba, Hannah H; Kuivaniemi, Helena H; Lutje, Vittoria V; Tromp, Gerard G; Sewram, Vikash V
Publication Date: 2019

Variant appearance in text: PMS1: -21+639G>A; rs5742938
PubMed Link: 31428123
Variant Present in the following documents:
  • Main text
  • fgene-10-00642.pdf
View BVdb publication page



Esophageal cancer genetics in South Africa.

Clinical And Experimental Gastroenterology
Alaouna, Mohammed M; Hull, Rodney R; Penny, Clement C; Dlamini, Zodwa Z
Publication Date: 2019

Variant appearance in text: rs5742938
PubMed Link: 31114287
Variant Present in the following documents:
  • Main text
  • ceg-12-157.pdf
View BVdb publication page



Investigation of DNA repair-related SNPs underlying susceptibility to papillary thyroid carcinoma reveals MGMT as a novel candidate gene in Belarusian children exposed to radiation.

Bmc Cancer
Lonjou, Christine C; Damiola, Francesca F; Moissonnier, Monika M; Durand, Geoffroy G; Malakhova, Irina I; Masyakin, Vladimir V; Le Calvez-Kelm, Florence F; Cardis, Elisabeth E; Byrnes, Graham G; Kesminiene, Ausrele A; Lesueur, Fabienne F
Publication Date: 2017-05-12

Variant appearance in text: rs5742938
PubMed Link: 28499365
Variant Present in the following documents:
  • 12885_2017_3314_MOESM1_ESM.xls, sheet 1
View BVdb publication page



RRM1 *151A>T, RRM1 -756T>C, and RRM1 -585T>Gis associated with increased susceptibility of lung cancer in Chinese patients.

Cancer Medicine
Xu, Xiao-Ling XL; Zheng, Ji J; Mao, Wei-Min WM; Ling, Zhi-Qiang ZQ
Publication Date: 2016-08

Variant appearance in text: rs5742938
PubMed Link: 27335251
Variant Present in the following documents:
  • Main text
  • CAM4-5-2084.pdf
View BVdb publication page



The cumulative effects of polymorphisms in the DNA mismatch repair genes and tobacco smoking in oesophageal cancer risk.

Plos One
Vogelsang, Matjaz M; Wang, Yabing Y; Veber, Nika N; Mwapagha, Lamech M LM; Parker, M Iqbal MI
Publication Date: 2012

Variant appearance in text: rs5742938
PubMed Link: 22623965
Variant Present in the following documents:
  • Main text
  • pone.0036962.s002.pdf
  • pone.0036962.pdf
View BVdb publication page