[HTML][HTML] Update on genetic predisposition to colorectal cancer and polyposis

L Valle, RM de Voer, Y Goldberg, W Sjursen… - Molecular aspects of …, 2019 - Elsevier
The present article summarizes recent developments in the characterization of genetic
predisposition to colorectal cancer (CRC). The main themes covered include new hereditary …

Topoisomerase IIα in chromosome instability and personalized cancer therapy

T Chen, Y Sun, P Ji, S Kopetz, W Zhang - Oncogene, 2015 - nature.com
Genome instability is a hallmark of cancer cells. Chromosome instability (CIN), which is often
mutually exclusive from hypermutation genotypes, represents a distinct subtype of genome …

Deleterious germline mutations in patients with apparently sporadic pancreatic adenocarcinoma

K Shindo, J Yu, M Suenaga… - Journal of Clinical …, 2017 - ascopubs.org
Purpose Deleterious germline mutations contribute to pancreatic cancer susceptibility and
are well documented in families in which multiple members have had pancreatic cancer …

A Post‐Hoc Comparison of the Utility of S anger Sequencing and Exome Sequencing for the Diagnosis of Heterogeneous Diseases

K Neveling, I Feenstra, C Gilissen… - Human …, 2013 - Wiley Online Library
The advent of massive parallel sequencing is rapidly changing the strategies employed for
the genetic diagnosis and research of rare diseases that involve a large number of genes …

[HTML][HTML] Exome sequencing identifies biallelic MSH3 germline mutations as a recessive subtype of colorectal adenomatous polyposis

R Adam, I Spier, B Zhao, M Kloth, J Marquez… - The American Journal of …, 2016 - cell.com
In∼ 30% of families affected by colorectal adenomatous polyposis, no germline mutations
have been identified in the previously implicated genes APC, MUTYH, POLE, POLD1, and …

Validation of recently proposed colorectal cancer susceptibility gene variants in an analysis of families and patients—a systematic review

P Broderick, SE Dobbins, D Chubb, B Kinnersley… - Gastroenterology, 2017 - Elsevier
High-throughput sequencing analysis has accelerated searches for genes associated with
risk for colorectal cancer (CRC); germline mutations in NTHL1, RPS20, FANCM, FAN1 …

Genetic predisposition to colorectal cancer: where we stand and future perspectives

L Valle - World journal of gastroenterology: WJG, 2014 - pmc.ncbi.nlm.nih.gov
The development of colorectal cancer (CRC) can be influenced by genetic factors in both
familial cases and sporadic cases. Familial CRC has been associated with genetic changes …

[HTML][HTML] Recent discoveries in the genetics of familial colorectal cancer and polyposis

L Valle - Clinical Gastroenterology and Hepatology, 2017 - Elsevier
The development of genome-wide massively parallel sequencing, ie, whole-genome and
whole-exome sequencing, and copy number approaches has raised high expectations for …

Correlation of BUB1 and BUB1B with the development and prognosis of endometrial cancer

H Zhang, Y Li, H Lu - Scientific Reports, 2024 - nature.com
This study aimed to evaluate the expression and clinical significance of budding uninhibited
by benzimidazole 1 (BUB1) and BUB1 mitotic checkpoint serine/threonine kinase B …

Colon cancer transcriptome

K Mokhtari, M Peymani, M Rashidi… - Progress in Biophysics …, 2023 - Elsevier
Over the last four decades, methodological innovations have continuously changed
transcriptome profiling. It is now feasible to sequence and quantify the transcriptional outputs …