MSH6 c.540T>G ;(p.D180E)

Variant ID: 2-48023115-T-G

NM_000179.2(MSH6):c.540T>G;(p.D180E)

This variant was identified in 11 publications

View GRCh38 version.




Publications:


Large Cancer Pedigree Involving Multiple Cancer Genes including Likely Digenic MSH2 and MSH6 Lynch Syndrome (LS) and an Instance of Recombinational Rescue from LS.

Cancers
Vogelaar, Ingrid P IP; Greer, Stephanie S; Wang, Fan F; Shin, GiWon G; Lau, Billy B; Hu, Yajing Y; Haraldsdottir, Sigurdis S; Alvarez, Rocio R; Hazelett, Dennis D; Nguyen, Peter P; Aguirre, Francesca P FP; Guindi, Maha M; Hendifar, Andrew A; Balcom, Jessica J; Leininger, Anna A; Fairbank, Beth B; Ji, Hanlee H; Hitchins, Megan P MP
Publication Date: 2022-12-30

Variant appearance in text: rs1800935
PubMed Link: 36612224
Variant Present in the following documents:
  • Main text
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: MSH6: 540T>G; D180E
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



Multiple genetic mutations caused by NKX6.3 depletion contribute to gastric tumorigenesis.

Scientific Reports
Yoon, Jung Hwan JH; Kim, Olga O; Eun, Jung Woo JW; Choi, Sung Sook SS; Ashktorab, Hassan H; Smoot, Duane T DT; Nam, Suk Woo SW; Park, Won Sang WS
Publication Date: 2018-12-04

Variant appearance in text: rs1800935
PubMed Link: 30514953
Variant Present in the following documents:
  • 41598_2018_35733_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



A study of molecular signals deregulating mismatch repair genes in prostate cancer compared to benign prostatic hyperplasia.

Plos One
Basu, Sanmitra S; Majumder, Subhadipa S; Bhowal, Ankur A; Ghosh, Alip A; Naskar, Sukla S; Nandy, Sumit S; Mukherjee, Subhabrata S; Sinha, Rajan Kumar RK; Basu, Keya K; Karmakar, Dilip D; Banerjee, Soma S; Sengupta, Sanghamitra S
Publication Date: 2015

Variant appearance in text: rs1800935
PubMed Link: 25938433
Variant Present in the following documents:
  • Main text
  • pone.0125560.pdf
View BVdb publication page



Integrative analysis of hereditary nonpolyposis colorectal cancer: the contribution of allele-specific expression and other assays to diagnostic algorithms.

Plos One
De Lellis, Laura L; Aceto, Gitana Maria GM; Curia, Maria Cristina MC; Catalano, Teresa T; Mammarella, Sandra S; Veschi, Serena S; Fantini, Fabiana F; Battista, Pasquale P; Stigliano, Vittoria V; Messerini, Luca L; Mareni, Cristina C; Sala, Paola P; Bertario, Lucio L; Radice, Paolo P; Cama, Alessandro A
Publication Date: 2013

Variant appearance in text: rs1800935
PubMed Link: 24278394
Variant Present in the following documents:
View BVdb publication page



Genome-wide association study identifies a region on chromosome 11q14.3 associated with late rectal bleeding following radiation therapy for prostate cancer.

Radiotherapy And Oncology : Journal Of The European Society For Therapeutic Radiology And Oncology
Kerns, Sarah L SL; Stock, Richard G RG; Stone, Nelson N NN; Blacksburg, Seth R SR; Rath, Lynda L; Vega, Ana A; Fachal, Laura L; Gómez-Caamaño, Antonio A; De Ruysscher, Dirk D; Lammering, Guido G; Parliament, Matthew M; Blackshaw, Michael M; Sia, Michael M; Cesaretti, Jamie J; Terk, Mitchell M; Hixson, Rosetta R; Rosenstein, Barry S BS; Ostrer, Harry H
Publication Date: 2013-06

Variant appearance in text: rs1800935
PubMed Link: 23719583
Variant Present in the following documents:
  • Main text
View BVdb publication page



DNA repair genotype and lung cancer risk in the beta-carotene and retinol efficacy trial.

International Journal Of Molecular Epidemiology And Genetics
Doherty, Jennifer A JA; Sakoda, Lori C LC; Loomis, Melissa M MM; Barnett, Matt J MJ; Julianto, Liberto L; Thornquist, Mark D MD; Neuhouser, Marian L ML; Weiss, Noel S NS; Goodman, Gary E GE; Chen, Chu C
Publication Date: 2013

Variant appearance in text: rs1800935
PubMed Link: 23565320
Variant Present in the following documents:
  • Main text
View BVdb publication page



Characterization of two Ashkenazi Jewish founder mutations in MSH6 gene causing Lynch syndrome.

Clinical Genetics
Raskin, L L; Schwenter, F F; Freytsis, M M; Tischkowitz, M M; Wong, N N; Chong, G G; Narod, S A SA; Levine, D A DA; Bogomolniy, F F; Aronson, M M; Thibodeau, S N SN; Hunt, K S KS; Rennert, G G; Gallinger, S S; Gruber, S B SB; Foulkes, W D WD
Publication Date: 2011-06

Variant appearance in text: rs1800935
PubMed Link: 21155762
Variant Present in the following documents:
  • Main text
View BVdb publication page



Association between DNA damage response and repair genes and risk of invasive serous ovarian cancer.

Plos One
Schildkraut, Joellen M JM; Iversen, Edwin S ES; Wilson, Melanie A MA; Clyde, Merlise A MA; Moorman, Patricia G PG; Palmieri, Rachel T RT; Whitaker, Regina R; Bentley, Rex C RC; Marks, Jeffrey R JR; Berchuck, Andrew A
Publication Date: 2010-04-08

Variant appearance in text: rs1800935
PubMed Link: 20386703
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genotyping panel for assessing response to cancer chemotherapy.

Bmc Medical Genomics
Dai, Zunyan Z; Papp, Audrey C AC; Wang, Danxin D; Hampel, Heather H; Sadee, Wolfgang W
Publication Date: 2008-06-11

Variant appearance in text: rs1800935
PubMed Link: 18547414
Variant Present in the following documents:
  • 1755-8794-1-24-S1.xls, sheet 1
View BVdb publication page



Allelic imbalance in gene expression as a guide to cis-acting regulatory single nucleotide polymorphisms in cancer cells.

Nucleic Acids Research
Milani, Lili L; Gupta, Manu M; Andersen, Malin M; Dhar, Sumeer S; Fryknäs, Mårten M; Isaksson, Anders A; Larsson, Rolf R; Syvänen, Ann-Christine AC
Publication Date: 2007

Variant appearance in text: rs1800935
PubMed Link: 17267408
Variant Present in the following documents:
  • Main text
  • gkl1152.pdf
View BVdb publication page