A germline homozygous mutation in the base-excision repair gene NTHL1 causes adenomatous polyposis and colorectal cancer

2015 ◽  
Vol 47 (6) ◽  
pp. 668-671 ◽  
Author(s):  
Robbert D A Weren ◽  
Marjolijn J L Ligtenberg ◽  
C Marleen Kets ◽  
Richarda M de Voer ◽  
Eugène T P Verwiel ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Base Excision Repair ◽  
Excision Repair ◽  
Homozygous Mutation ◽  
Adenomatous Polyposis ◽  
Repair Gene ◽  
Base Excision

scholarly journals Alterations of the base excision repair gene MUTYH in sporadic colorectal cancer

2012 ◽  
Vol 28 (2) ◽  
pp. 473-480 ◽  
Author(s):  
TAKASHI KUNO ◽  
NAGAHIDE MATSUBARA ◽  
SATOSHI TSUDA ◽  
MASAYOSHI KOBAYASHI ◽  
MIE HAMANAKA ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Base Excision Repair ◽  
Excision Repair ◽  
Sporadic Colorectal Cancer ◽  
Repair Gene ◽  
Base Excision

scholarly journals Germline Susceptibility to Colorectal Cancer Due to Base-Excision Repair Gene Defects

2005 ◽  
Vol 77 (1) ◽  
pp. 112-119 ◽  
Author(s):  
Susan M. Farrington ◽  
Albert Tenesa ◽  
Rebecca Barnetson ◽  
Alice Wiltshire ◽  
James Prendergast ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Base Excision Repair ◽  
Excision Repair ◽  
Repair Gene ◽  
Gene Defects ◽  
Base Excision

scholarly journals Association between genetic polymorphisms of the base excision repair gene MUTYH and increased colorectal cancer risk in a Japanese population

2008 ◽  
Vol 99 (2) ◽  
pp. 355-360 ◽  
Author(s):  
Hong Tao ◽  
Kazuya Shinmura ◽  
Masaya Suzuki ◽  
Suminori Kono ◽  
Ryuichi Mibu ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Cancer Risk ◽  
Genetic Polymorphisms ◽  
Base Excision Repair ◽  
Japanese Population ◽  
Excision Repair ◽  
Colorectal Cancer Risk ◽  
Repair Gene ◽  
Base Excision

scholarly journals Germline loss-of-function variants in the base-excision repair gene MBD4 cause a Mendelian recessive syndrome of adenomatous colorectal polyposis and acute myeloid leukaemia

2021 ◽  
Author(s):  
Claire Palles ◽  
Edward Chew ◽  
Judith E. Grolleman ◽  
Sara Galavotti ◽  
Christoffer Flensburg ◽  
...  
Keyword(s):  
Base Excision Repair ◽  
Excision Repair ◽  
Genetic Diagnosis ◽  
Adenomatous Polyposis ◽  
Loss Of Function ◽  
Driver Genes ◽  
Repair Gene ◽  
Colorectal Polyposis ◽  
Increased Risk ◽  
Base Excision

ABSTRACTInherited defects in base-excision repair (BER) predispose to adenomatous polyposis and colorectal cancer (CRC), yet our understanding of this important DNA repair pathway remains incomplete. By combining detailed clinical, histological and molecular profiling, we reveal biallelic germline loss-of-function (LOF) variants in the BER gene MBD4 to predispose to adenomatous polyposis and –uniquely amongst CRC predisposition syndromes– to myeloid neoplasms. Neoplasms from MBD4-deficient patients almost exclusively accumulate somatic CpG>TpG mutations, resembling mutational signature SBS1. MBD4-deficient adenomas harbour mutations in known CRC driver genes, although AMER1 mutations were more common and KRAS mutations less frequent. We did not find an increased risk for colorectal tumours in individuals with a monoallelic MBD4 LOF variant. We suggest that this condition should be termed MBD4-associated neoplasia syndrome (MANS) and that MBD4 is included in testing for the genetic diagnosis of polyposis and/or early-onset AML.

Association of genetic polymorphism of the DNA base excision repair gene (APE-1 Asp/148 Glu) and HPV type (16/18) with the risk of cervix cancer in north Indian population

2008 ◽  
Vol 4 (2) ◽  
pp. 63-71 ◽  
Author(s):  
Mohammad Shekari ◽  
Ranbir Chander Sobti ◽  
Dor Mohammad Kordi Tamandani ◽  
Keyanoosh Malekzadeh ◽  
Pushpinder Kaur ◽  
...  
Keyword(s):  
Genetic Polymorphism ◽  
Base Excision Repair ◽  
Indian Population ◽  
Excision Repair ◽  
Cervix Cancer ◽  
North Indian Population ◽  
Repair Gene ◽  
Dna Base Excision Repair ◽  
Dna Base ◽  
Base Excision

scholarly journals Genetic polymorphism in DNA base excision repair gene XRCC1among medical radiation workers

2019 ◽  
Vol 51 (04) ◽  
Author(s):  
Harry Nugroho Eko Surniyantoro ◽  
Yanti Lusiyanti ◽  
Wiwin Mailana ◽  
Devita Tetriana
Keyword(s):  
Genetic Polymorphism ◽  
Base Excision Repair ◽  
Excision Repair ◽  
Repair Gene ◽  
Dna Base Excision Repair ◽  
Medical Radiation ◽  
Dna Base ◽  
Radiation Workers ◽  
Base Excision

scholarly journals Evaluating the utility of tumour mutational signatures for identifying hereditary colorectal cancer and polyposis syndrome carriers

Gut ◽  
2021 ◽  
pp. gutjnl-2019-320462
Author(s):  
Peter Georgeson ◽  
Bernard J Pope ◽  
Christophe Rosty ◽  
Mark Clendenning ◽  
Khalid Mahmood ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Excision Repair ◽  
Area Under The Curve ◽  
Hereditary Colorectal Cancer ◽  
Base Substitution ◽  
Mutational Signatures ◽  
Repair Gene ◽  
Dna Mismatch ◽  
Pathogenic Variants ◽  
Base Excision

ObjectiveGermline pathogenic variants (PVs) in the DNA mismatch repair (MMR) genes and in the base excision repair gene MUTYH underlie hereditary colorectal cancer (CRC) and polyposis syndromes. We evaluated the robustness and discriminatory potential of tumour mutational signatures in CRCs for identifying germline PV carriers.DesignWhole-exome sequencing of formalin-fixed paraffin-embedded (FFPE) CRC tissue was performed on 33 MMR germline PV carriers, 12 biallelic MUTYH germline PV carriers, 25 sporadic MLH1 methylated MMR-deficient CRCs (MMRd controls) and 160 sporadic MMR-proficient CRCs (MMRp controls) and included 498 TCGA CRC tumours. COSMIC V3 single base substitution (SBS) and indel (ID) mutational signatures were assessed for their ability to differentiate CRCs that developed in carriers from non-carriers.ResultsThe combination of mutational signatures SBS18 and SBS36 contributing >30% of a CRC’s signature profile was able to discriminate biallelic MUTYH carriers from all other non-carrier control CRCs with 100% accuracy (area under the curve (AUC) 1.0). SBS18 and SBS36 were associated with specific MUTYH variants p.Gly396Asp (p=0.025) and p.Tyr179Cys (p=5×10-5), respectively. The combination of ID2 and ID7 could discriminate the 33 MMR PV carrier CRCs from the MMRp control CRCs (AUC 0.99); however, SBS and ID signatures, alone or in combination, could not provide complete discrimination (AUC 0.79) between CRCs from MMR PV carriers and sporadic MMRd controls.ConclusionAssessment of SBS and ID signatures can discriminate CRCs from biallelic MUTYH carriers and MMR PV carriers from non-carriers with high accuracy, demonstrating utility as a potential diagnostic and variant classification tool.

scholarly journals The p53 Pathway Promotes Efficient Mitochondrial DNA Base Excision Repair in Colorectal Cancer Cells

2006 ◽  
Vol 66 (7) ◽  
pp. 3485-3494 ◽  
Author(s):  
Dexi Chen ◽  
Zhiyong Yu ◽  
Zhiyi Zhu ◽  
Charles D. Lopez
Keyword(s):  
Colorectal Cancer ◽  
Mitochondrial Dna ◽  
Cancer Cells ◽  
Base Excision Repair ◽  
Excision Repair ◽  
P53 Pathway ◽  
Dna Base Excision Repair ◽  
Dna Base ◽  
Colorectal Cancer Cells ◽  
Base Excision

Deregulation of base excision repair gene expression and enhanced proliferation in head and neck squamous cell carcinoma

Tumor Biology ◽  
2014 ◽  
Vol 35 (6) ◽  
pp. 5971-5983 ◽  
Author(s):  
Ishrat Mahjabeen ◽  
Kashif Ali ◽  
Xiaofeng Zhou ◽  
Mahmood Akhtar Kayani
Keyword(s):  
Gene Expression ◽  
Squamous Cell Carcinoma ◽  
Cell Carcinoma ◽  
Head And Neck ◽  
Base Excision Repair ◽  
Squamous Cell ◽  
Excision Repair ◽  
Neck Squamous Cell Carcinoma ◽  
Repair Gene ◽  
Base Excision
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