MLH1 c.1624C>T ;(p.Q542*)

Variant ID: 3-37081742-C-T

NM_000249.3(MLH1):c.1624C>T;(p.Q542*)

This variant was identified in 9 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: MLH1: 1624C>T; Q542*; rs63750192
PubMed Link: 36922933
Variant Present in the following documents:
  • crc-22-0136-s01.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: MLH1: 1624C>T; Gln542Ter
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Advantages and Limitations of Monitoring Circulating Tumor DNA Levels to Predict the Prognosis of Patients Diagnosed With Gastric Cancer.

Biomarker Insights
He, Wan W; Yang, Jingxin J; Sun, Xiao X; Jiang, Shunda S; Jiang, Jinchan J; Liu, Ming M; Mu, Tianhao T; Li, Yingmei Y; Zhang, Xiaoni X; Duan, Jingxian J; Xu, Ruilian R
Publication Date: 2022

Variant appearance in text: MLH1: 1624C>T; Q542*
PubMed Link: 36533271
Variant Present in the following documents:
  • sj-xlsx-2-bmi-10.1177_11772719221141525.xlsx, sheet 1
View BVdb publication page



Dynamic changes in gene alterations during chemotherapy in metastatic castrate resistant prostate cancer.

Scientific Reports
Tan, Winston W; Zheng, Tiantian T; Wang, Amy A; Roacho, Joanna J; Thao, Seng S; Du, Pan P; Jia, Shidong S; Yu, Jianjun J; King, Bonnie L BL; Kohli, Manish M
Publication Date: 2022-03-18

Variant appearance in text: MLH1: 1624C>T; Gln542Ter
PubMed Link: 35304525
Variant Present in the following documents:
  • 41598_2022_8520_MOESM2_ESM.xlsx, sheet 2
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: 1624C>T; Gln542Ter; rs63750192
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 7
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: 1624C>T; rs63750192
PubMed Link: 34172528
Variant Present in the following documents:
  • jmedgenet-2021-107886supp006.xlsx, sheet 1
View BVdb publication page



Genomic profile of urine has high diagnostic sensitivity compared to cytology in non-invasive urothelial bladder cancer.

Cancer Science
Hirotsu, Yosuke Y; Yokoyama, Hitoshi H; Amemiya, Kenji K; Hagimoto, Takashi T; Daimon, Hironori H; Hosaka, Kyoko K; Oyama, Toshio T; Mochizuki, Hitoshi H; Omata, Masao M
Publication Date: 2019-10

Variant appearance in text: MLH1: Q542*
PubMed Link: 31368627
Variant Present in the following documents:
  • CAS-110-3235.pdf
View BVdb publication page



Excluding Lynch syndrome in a female patient with metachronous DNA mismatch repair deficient colon- and ovarian cancer.

Familial Cancer
Crobach, Stijn S; Jansen, Anne M L AML; Ligtenberg, Marjolein J L MJL; Koopmans, Marije M; Nielsen, Maartje M; Hes, Frederik J FJ; Wijnen, Juul T JT; Dinjens, Winand N M WNM; van Wezel, Tom T; Morreau, Hans H
Publication Date: 2018-07

Variant appearance in text: MLH1: Gln542*
PubMed Link: 29124495
Variant Present in the following documents:
  • Main text
  • 10689_2017_Article_55.pdf
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: 1624C>T; Gln542Ter
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page