[HTML][HTML] Genome-wide association studies in oesophageal adenocarcinoma and Barrett's oesophagus: a large-scale meta-analysis
Background Oesophageal adenocarcinoma represents one of the fastest rising cancers in
high-income countries. Barrett's oesophagus is the premalignant precursor of oesophageal …
high-income countries. Barrett's oesophagus is the premalignant precursor of oesophageal …
[HTML][HTML] Polymorphisms near TBX5 and GDF7 are associated with increased risk for Barrett's esophagus
Background & Aims Barrett's esophagus (BE) increases the risk of esophageal
adenocarcinoma (EAC). We found the risk to be BE has been associated with single …
adenocarcinoma (EAC). We found the risk to be BE has been associated with single …
The evolutionary landscape of colorectal tumorigenesis
The evolutionary events that cause colorectal adenomas (benign) to progress to carcinomas
(malignant) remain largely undetermined. Using multi-region genome and exome …
(malignant) remain largely undetermined. Using multi-region genome and exome …
[PDF][PDF] Germline MBD4 deficiency causes a multi-tumor predisposition syndrome
C Palles, HD West, E Chew, S Galavotti… - The American Journal of …, 2022 - cell.com
We report an autosomal recessive, multi-organ tumor predisposition syndrome, caused by bi-
allelic loss-of-function germline variants in the base excision repair (BER) gene MBD4. We …
allelic loss-of-function germline variants in the base excision repair (BER) gene MBD4. We …
Somatic POLE exonuclease domain mutations are early events in sporadic endometrial and colorectal carcinogenesis, determining driver mutational landscape …
D Temko, IC Van Gool, E Rayner… - The Journal of …, 2018 - Wiley Online Library
Genomic instability, which is a hallmark of cancer, is generally thought to occur in the middle
to late stages of tumourigenesis, following the acquisition of permissive molecular …
to late stages of tumourigenesis, following the acquisition of permissive molecular …
[HTML][HTML] The clinical features of polymerase proof-reading associated polyposis (PPAP) and recommendations for patient management
Pathogenic germline exonuclease domain (ED) variants of POLE and POLD1 cause the
Mendelian dominant condition polymerase proof-reading associated polyposis (PPAP). We …
Mendelian dominant condition polymerase proof-reading associated polyposis (PPAP). We …
Germline variation in inflammation-related pathways and risk of Barrett's oesophagus and oesophageal adenocarcinoma
MF Buas, Q He, LG Johnson, L Onstad, DM Levine… - Gut, 2017 - gut.bmj.com
Objective Oesophageal adenocarcinoma (OA) incidence has risen sharply in Western
countries over recent decades. Local and systemic inflammation is considered an important …
countries over recent decades. Local and systemic inflammation is considered an important …
[HTML][HTML] An Evaluation of the Diagnostic Accuracy of a Panel of Variants in DPYD and a Single Variant in ENOSF1 for Predicting Common Capecitabine Related …
C Palles, S Fotheringham, L Chegwidden, M Lucas… - Cancers, 2021 - mdpi.com
Simple Summary 5-Fluorouracil (5-FU) is a chemotherapy drug that can cause severe
toxicity in some patients. A protein, an action molecule in our cells, called dihydropyrimidine …
toxicity in some patients. A protein, an action molecule in our cells, called dihydropyrimidine …
Germline variation in the insulin-like growth factor pathway and risk of Barrett's esophagus and esophageal adenocarcinoma
Genome-wide association studies (GWAS) of esophageal adenocarcinoma (EAC) and its
precursor, Barrett's esophagus (BE), have uncovered significant genetic components of risk …
precursor, Barrett's esophagus (BE), have uncovered significant genetic components of risk …
GWAS meta-analysis of 16 790 patients with Barrett's oesophagus and oesophageal adenocarcinoma identifies 16 novel genetic risk loci and provides insights into …
J Schröder, L Chegwidden, C Maj, J Gehlen, J Speller… - Gut, 2023 - gut.bmj.com
Objective Oesophageal cancer (EC) is the sixth leading cause of cancer-related deaths.
Oesophageal adenocarcinoma (EA), with Barrett's oesophagus (BE) as a precursor lesion …
Oesophageal adenocarcinoma (EA), with Barrett's oesophagus (BE) as a precursor lesion …