Varaico: Literature-Extracted Genetic Variants

Gene:MLH1
Variant:p.R69_K70Splc
Back to variants list

MLH1

NM_000249.4:p.R69_K70Splc

Associated Papers

Pathogenic variation in human DNA damage repair genes was originated from the evolutionary process of modern humans.

Li J et al.

Genes & Diseases, 2026

41624906 (PubMed )
Supplement: mmc1.xlsx › Sheet1

Pathogenic variants in human DNA damage repair genes mostly arose in recent human history.

Zhao B et al.

Bmc Cancer, 2024

38575974 (PubMed )
Supplement: 12885_2024_12160_MOESM6_ESM.xlsx › Sheet1

Evolutionary origin of germline pathogenic variants in human DNA mismatch repair genes.

Lei H et al.

Human Genomics, 2024

38287404 (PubMed )
Supplement: 40246_2024_573_MOESM3_ESM.xls › MLH1

Investigating the prevalence of pathogenic variants in Saudi Arabian patients with familial cancer using a multigene next generation sequencing panel.

AlHarbi M et al.

Oncotarget, 2023

37306523 (PubMed )
Supplement: oncotarget-14-28457-s002.xlsx › Table_S3

Systematic review of reported association studies of monogenic genes and bladder cancer risk and confirmation analysis in a large population cohort.

Mian A et al.

Bjui Compass, 2023

36816149 (PubMed )
Supplement: BCO2-4-156-s001.xlsx › sTable_1

Case Report: Grade 2 Metastatic Pancreatic Neuroendocrine Tumor With Progression of One Metastasis After Pregnancy to Grade 3 Large-Cell Neuroendocrine Carcinoma: One Case Cured by Resection With Genomic Characterization of the Two Components.

Raoul JL et al.

Frontiers in Oncology, 2021

Prospective Statewide Study of Universal Screening for Hereditary Colorectal Cancer: The Ohio Colorectal Cancer Prevention Initiative.

Pearlman R et al.

Jco Precision Oncology, 2021

Prevalence of hereditary breast and ovarian cancer (HBOC) predisposition gene mutations among 882 HBOC high-risk Chinese individuals.

Shao D et al.

Cancer Science, 2020

31742824 (PubMed )
Supplement: CAS-111-647-s001.xlsx › List_of_pathogenic_mutations

Genomics of Prostate Cancer: What Nurses Need to Know.

McReynolds KM et al.

Seminars in Oncology Nursing, 2019

The Prevalence of Founder Mutations among Individuals from Families with Familial Pancreatic Cancer Syndrome.

Lener MR et al.

Cancer Research and Treatment, 2017

Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.

LaDuca H et al.

Plos One, 2017

28152038 (PubMed )
Supplement: pone.0170843.s003.xlsx › S3_Table

Combined mismatch repair and POLE/POLD1 defects explain unresolved suspected Lynch syndrome cancers.

Jansen AM et al.

European Journal of Human Genetics : Ejhg, 2016

26648449 (PubMed )
Supplement: ejhg2015252x2.xlsx › Sheet1

Utilization of multigene panels in hereditary cancer predisposition testing: analysis of more than 2,000 patients.

LaDuca H et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2014

24763289 (PubMed )
Supplement: gim201440x3.xls › Sheet1

Hereditary genes and SNPs associated with breast cancer.

Mahdi KM et al.

Asian Pacific Journal of Cancer Prevention : Apjcp, 2013

Inherited susceptibility to common cancers.

Foulkes WD

The New England Journal of Medicine, 2008

Clinical Significance of Gene Mutations and Polymorphic Variants and their Association with Prostate Cancer Risk in Polish Men.

Heise M et al.

Cancer Control : Journal of the Moffitt Cancer Center, 0

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."