MLH1 c.2194A>T ;(p.K732*)

Variant ID: 3-37092067-A-T

NM_000249.3(MLH1):c.2194A>T;(p.K732*)

This variant was identified in 8 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: 2194A>T; Lys732Ter; rs267607906
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: 2194A>T; Lys732Ter
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Characterization of sebaceous and non-sebaceous cutaneous manifestations in patients with lynch syndrome: a systematic review.

Familial Cancer
Aziz, Shahram S; O'Sullivan, Hazel H; Heelan, Kara K; Alam, Afrina A; McVeigh, Terri P TP
Publication Date: 2022-11-23

Variant appearance in text: MLH1: 2194A>T; Lys732Ter
PubMed Link: 36418753
Variant Present in the following documents:
  • 10689_2022_319_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Discrepancies between tumor genomic profiling and germline genetic testing.

Esmo Open
Pauley, K K; Koptiuch, C C; Greenberg, S S; Kohlmann, W W; Jeter, J J; Colonna, S S; Werner, T T; Kinsey, C C; Gilcrease, G G; Weis, J J; Whisenant, J J; Florou, V V; Garrido-Laguna, I I
Publication Date: 2022-08

Variant appearance in text: MLH1: 2194A>T
PubMed Link: 35780590
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: MLH1: 2194A>T; Lys732Ter; rs267607906
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 7
View BVdb publication page



Understanding inherited risk in unselected newly diagnosed patients with endometrial cancer.

Jco Precision Oncology
Cadoo, Karen A KA; Mandelker, Diana L DL; Mukherjee, Semanti S; Stewart, Carolyn C; DeLair, Deborah D; Ravichandran, Vignesh V; Srinivasan, Preethi P; Hurley, Daire D; Kemel, Yelena Y; Arnold, Angela G AG; Sheehan, Margaret M; Pradhan, Nisha N; Joseph, Vijai V; Chi, Dennis S DS; Gardner, Ginger J GJ; Jewell, Elizabeth L EL; Leitao, Mario M MM; Roche, Kara Long KL; Mueller, Jennifer J JJ; Sonoda, Yukio Y; Zivanovic, Oliver O; Walsh, Michael M; Carlo, Maria I MI; Berger, Michael F MF; Hyman, David D; Zhang, Liying L; Robson, Mark E ME; Offit, Kenneth K; Aghajanian, Carol C; Rustum, Nadeem R Abu NRA; Stadler, Zsofia Z
Publication Date: 2019

Variant appearance in text: MLH1: Lys732*
PubMed Link: 32775946
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genomic Correlates of Immune-Cell Infiltrates in Colorectal Carcinoma.

Cell Reports
Giannakis, Marios M; Mu, Xinmeng Jasmine XJ; Shukla, Sachet A SA; Qian, Zhi Rong ZR; Cohen, Ofir O; Nishihara, Reiko R; Bahl, Samira S; Cao, Yin Y; Amin-Mansour, Ali A; Yamauchi, Mai M; Sukawa, Yasutaka Y; Stewart, Chip C; Rosenberg, Mara M; Mima, Kosuke K; Inamura, Kentaro K; Nosho, Katsuhiko K; Nowak, Jonathan A JA; Lawrence, Michael S MS; Giovannucci, Edward L EL; Chan, Andrew T AT; Ng, Kimmie K; Meyerhardt, Jeffrey A JA; Van Allen, Eliezer M EM; Getz, Gad G; Gabriel, Stacey B SB; Lander, Eric S ES; Wu, Catherine J CJ; Fuchs, Charles S CS; Ogino, Shuji S; Garraway, Levi A LA
Publication Date: 2016-04-26

Variant appearance in text: MLH1: K732*
PubMed Link: 27149842
Variant Present in the following documents:
  • mmc2.xlsx, sheet 4
View BVdb publication page



Synchronous gastric and sebaceous cancers, a rare manifestation of MLH1-related Muir-Torre syndrome.

International Journal Of Clinical And Experimental Pathology
Svec, Jiří J; Schwarzová, Lucie L; Janošíková, Bohumila B; Stekrová, Jitka J; Mandys, Václav V; Kment, Milan M; Vodička, Pavel P
Publication Date: 2014

Variant appearance in text: MLH1: 2194A>T; Lys732X
PubMed Link: 25197397
Variant Present in the following documents:
  • Main text
View BVdb publication page