MLH1 c.184C>T ;(p.Q62*)

Variant ID: 3-37038177-C-T

NM_000249.3(MLH1):c.184C>T;(p.Q62*)

This variant was identified in 11 publications

View GRCh38 version.




Publications:


Pathogenic genomic alterations in Chinese pancreatic cancer patients and their therapeutical implications.

Cancer Medicine
Zhao, Zhiming Z; Li, Xiaomo X; Wang, Fei F; Xu, Yong Y; Liu, Si S; Han, Quanli Q; Yang, Zhiying Z; Huang, Weiwei W; Yin, Zhuzeng Z; Liu, Qu Q; Tan, Haidong H; Ma, Tonghui T; Si, Shuang S; Huang, Jia J; Yuan, Hongling H; Li, Wei W; Liu, Rong R
Publication Date: 2023-03-31

Variant appearance in text: MLH1: Gln62Ter
PubMed Link: 36999792
Variant Present in the following documents:
  • Main text
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: MLH1: 184C>T; Gln62Ter
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
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: MLH1: 184C>T; Q62X; rs63751428
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 7
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 5
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 4
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 2
View BVdb publication page



Whole-exome sequencing reveals germline-mutated small cell lung cancer subtype with favorable response to DNA repair-targeted therapies.

Science Translational Medicine
Tlemsani, Camille C; Takahashi, Nobuyuki N; Pongor, Lorinc L; Rajapakse, Vinodh N VN; Tyagi, Manoj M; Wen, Xinyu X; Fasaye, Grace-Ann GA; Schmidt, Keith T KT; Desai, Parth P; Kim, Chul C; Rajan, Arun A; Swift, Shannon S; Sciuto, Linda L; Vilimas, Rasa R; Webb, Santhana S; Nichols, Samantha S; Figg, William Douglas WD; Pommier, Yves Y; Calzone, Kathleen K; Steinberg, Seth M SM; Wei, Jun S JS; Guha, Udayan U; Turner, Clesson E CE; Khan, Javed J; Thomas, Anish A
Publication Date: 2021-01-27

Variant appearance in text: MLH1: 184C>T; Q62X
PubMed Link: 33504652
Variant Present in the following documents:
  • Main text
View BVdb publication page



Lynch Syndrome-Associated Variants and Cancer Rates in an Ancestrally Diverse Biobank.

Jco Precision Oncology
Rosenblum, Rachel E RE; Ang, Celina C; Suckiel, Sabrina A SA; Soper, Emily R ER; Sigireddi, Meenakshi R MR; Cullina, Sinead S; Belbin, Gillian M GM; Lucas, Aimee L AL; Kenny, Eimear E EE; Abul-Husn, Noura S NS
Publication Date: 2020

Variant appearance in text: MLH1: 184C>T
PubMed Link: 33283134
Variant Present in the following documents:
  • Main text
View BVdb publication page



Comparative analysis of primary versus relapse/refractory DLBCL identifies shifts in mutation spectrum.

Oncotarget
Greenawalt, Danielle M DM; Liang, Winnie S WS; Saif, Sakina S; Johnson, Justin J; Todorov, Petar P; Dulak, Austin A; Enriquez, Daniel D; Halperin, Rebecca R; Ahmed, Ambar A; Saveliev, Vladislav V; Carpten, John J; Craig, David D; Barrett, J Carl JC; Dougherty, Brian B; Zinda, Michael M; Fawell, Stephen S; Dry, Jonathan R JR; Byth, Kate K
Publication Date: 2017-11-21

Variant appearance in text: MLH1: 184C>T
PubMed Link: 29245897
Variant Present in the following documents:
  • oncotarget-08-99237-s002.xlsx, sheet 1
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: 184C>T; Gln62Ter
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
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: MLH1: Gln62X
PubMed Link: 20587412
Variant Present in the following documents:
  • Main text
  • jmedgenet77677.pdf
View BVdb publication page



Some aspects of molecular diagnostics in Lynch syndrome.

Hereditary Cancer In Clinical Practice
Kurzawski, Grzegorz G
Publication Date: 2006-12-15

Variant appearance in text: MLH1: 184C>T; Q62X
PubMed Link: 20223024
Variant Present in the following documents:
  • Main text
  • 1897-4287-4-4-197.pdf
View BVdb publication page



Combined iPLEX and TaqMan assays to screen for 45 common mutations in Lynch syndrome and FAP patients.

The Journal Of Molecular Diagnostics : Jmd
Dymerska, Dagmara D; Serrano-Fernández, Pablo P; Suchy, Janina J; Pławski, Andrzej A; Słomski, Ryszard R; Kaklewski, Krzysztof K; Scott, Rodney J RJ; Gronwald, Jacek J; Kładny, Józef J; Byrski, Tomasz T; Huzarski, Tomasz T; Lubiński, Jan J; Kurzawski, Grzegorz G
Publication Date: 2010-01

Variant appearance in text: MLH1: 184C>T
PubMed Link: 20007843
Variant Present in the following documents:
  • Main text
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: MLH1: Q62X
PubMed Link: 19324997
Variant Present in the following documents:
  • Main text
View BVdb publication page