MLH1 c.2252_2253del ;(p.K751Sfs*3)

Variant ID: 3-37092123-CAA-C

NM_000249.3(MLH1):c.2252_2253del;(p.K751Sfs*3)

This variant was identified in 11 publications

View GRCh38 version.




Publications:


Prevalence and Genotype-Phenotype Correlation of Lynch Syndrome in a Selected High-Risk Cohort from Qatar's Population.

Genes
Sidenna, Mariem M; Khodjet-El-Khil, Houssein H; Al Mulla, Hajar H; Al-Shafai, Mashael M; Habish, Hind Hassan HH; Al-Sulaiman, Reem R; Al-Bader, Salha Bujassoum SB
Publication Date: 2022-11-21

Variant appearance in text: MLH1: 2252_2253delAA
PubMed Link: 36421850
Variant Present in the following documents:
  • Main text
  • genes-13-02176.pdf
View BVdb publication page



Prediction of breast cancer risk based on flow variant analysis of circulating peripheral blood mononuclear cells.

Hgg Advances
Loke, Johnny J; Alim, Ishraq I; Yam, Sarah S; Klugman, Susan S; Xia, Li C LC; Gruber, Dorota D; Tegay, David D; LaBella, Andrea A; Onel, Kenan K; Ostrer, Harry H
Publication Date: 2022-04-14

Variant appearance in text: MLH1: 2252_2253del
PubMed Link: 35146455
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



Multilocus Inherited Neoplasia Allele Syndrome (MINAS): an update.

European Journal Of Human Genetics : Ejhg
McGuigan, Anthony A; Whitworth, James J; Andreou, Avgi A; Hearn, Timothy T; , ; Tischkowitz, Marc M; Maher, Eamonn R ER
Publication Date: 2022-03

Variant appearance in text: MLH1: 2252_2253delAA; K751Sfs*3
PubMed Link: 34983940
Variant Present in the following documents:
  • 41431_2021_1013_MOESM1_ESM.pdf
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: 2252_2253delAA; Lys751Serfs
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 7
View BVdb publication page



Unexpected expression of mismatch repair protein is more commonly seen with pathogenic missense than with other mutations in Lynch syndrome.

Human Pathology
Chen, Wei W; Hampel, Heather H; Pearlman, Rachel R; Jones, Dan D; Zhao, Weiqiang W; Alsomali, Mohammed M; Knight, Deborah D; Frankel, Wendy L WL
Publication Date: 2020-09

Variant appearance in text: MLH1: 2252_2253delAA; K751Sfs*3
PubMed Link: 32652087
Variant Present in the following documents:
  • Main text
View BVdb publication page



Frequency of genomic secondary findings among 21,915 eMERGE network participants.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
,
Publication Date: 2020-09

Variant appearance in text: MLH1: 2252_2253delAA; Lys751Serfs*3
PubMed Link: 32546831
Variant Present in the following documents:
  • NIHMS1615423-supplement-Supplementary_Table_2.xlsx, sheet 1
View BVdb publication page



Toward automation of germline variant curation in clinical cancer genetics.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Ravichandran, Vignesh V; Shameer, Zarina Z; Kemel, Yelena Y; Walsh, Michael M; Cadoo, Karen K; Lipkin, Steven S; Mandelker, Diana D; Zhang, Liying L; Stadler, Zsofia Z; Robson, Mark M; Offit, Kenneth K; Vijai, Joseph J
Publication Date: 2019-09

Variant appearance in text: MLH1: 2252_2253delAA
PubMed Link: 30787465
Variant Present in the following documents:
  • NIHMS1525468-supplement-Large_Excel_File.xlsx, sheet 6
View BVdb publication page



Pancreatic Cancer in Lynch Syndrome Patients.

Journal Of Cancer
Bujanda, Luis L; Herreros-Villanueva, Marta M
Publication Date: 2017

Variant appearance in text: MLH1: 2252_2253delAA; Lys751Serfs*3
PubMed Link: 29151953
Variant Present in the following documents:
  • Main text
  • jcav08p3667.pdf
View BVdb publication page



A survey of the clinicopathological and molecular characteristics of patients with suspected Lynch syndrome in Latin America.

Bmc Cancer
Rossi, Benedito Mauro BM; Palmero, Edenir Inêz EI; López-Kostner, Francisco F; Sarroca, Carlos C; Vaccaro, Carlos Alberto CA; Spirandelli, Florencia F; Ashton-Prolla, Patricia P; Rodriguez, Yenni Y; de Campos Reis Galvão, Henrique H; Reis, Rui Manuel RM; Escremim de Paula, André A; Capochin Romagnolo, Luis Gustavo LG; Alvarez, Karin K; Della Valle, Adriana A; Neffa, Florencia F; Kalfayan, Pablo German PG; Spirandelli, Enrique E; Chialina, Sergio S; Gutiérrez Angulo, Melva M; Castro-Mujica, Maria Del Carmen MDC; Sanchez de Monte, Julio J; Quispe, Richard R; da Silva, Sabrina Daniela SD; Rossi, Norma Teresa NT; Barletta-Carrillo, Claudia C; Revollo, Susana S; Taborga, Ximena X; Morillas, L Lena LL; Tubeuf, Hélène H; Monteiro-Santos, Erika Maria EM; Piñero, Tamara Alejandra TA; Dominguez-Barrera, Constantino C; Wernhoff, Patrik P; Martins, Alexandra A; Hovig, Eivind E; Møller, Pål P; Dominguez-Valentin, Mev M
Publication Date: 2017-09-05

Variant appearance in text: MLH1: 2252_2253delAA; Lys751Serfs
PubMed Link: 28874130
Variant Present in the following documents:
  • Main text
  • 12885_2017_Article_3599.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: 2252_2253delAA; Lys751Serfs
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



MLH1 Ile219Val Polymorphism in Argentinean Families with Suspected Lynch Syndrome.

Frontiers In Oncology
Dominguez-Valentin, Mev M; Wernhoff, Patrik P; Cajal, Andrea R AR; Kalfayan, Pablo G PG; Piñero, Tamara A TA; Gonzalez, Maria L ML; Ferro, Alejandra A; Sammartino, Ines I; Causada Calo, Natalia S NS; Vaccaro, Carlos A CA
Publication Date: 2016

Variant appearance in text: MLH1: 2252_2253delAA; K751SfsX3
PubMed Link: 27606285
Variant Present in the following documents:
  • Main text
  • fonc-06-00189.pdf
View BVdb publication page