User profiles for S. Castellví-Bel

Sergi Castellví-Bel

Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS)
Verified email at recerca.clinic.cat
Cited by 9229

A genome-wide association study identifies colorectal cancer susceptibility loci on chromosomes 10p14 and 8q23. 3

…, MC Southey, GG Giles, G Severi, S Castellví-Bel… - Nature …, 2008 - nature.com
To identify colorectal cancer (CRC) susceptibility alleles, we conducted a genome-wide
association study. In phase 1, we genotyped 550,163 tagSNPs in 940 familial colorectal tumor …

Accuracy of revised Bethesda guidelines, microsatellite instability, and immunohistochemistry for the identification of patients with hereditary nonpolyposis colorectal …

V Piñol, A Castells, M Andreu, S Castellví-Bel… - Jama, 2005 - jamanetwork.com
ContextThe selection of individuals for hereditary nonpolyposis colorectal cancer (HNPCC)
genetic testing is challenging. Recently, the National Cancer Institute outlined a new set of …

Discovery of common and rare genetic risk variants for colorectal cancer

…, BJ Caan, PT Campbell, CS Carlson, S Castellví-Bel… - Nature …, 2019 - nature.com
To further dissect the genetic architecture of colorectal cancer (CRC), we performed whole-genome
sequencing of 1,439 cases and 720 controls, imputed discovered sequence variants …

Deciphering colorectal cancer genetics through multi-omic analysis of 100,204 cases and 154,587 controls of European and east Asian ancestries

…, M Gunter, N Murphy, A Castells, S Castellví-Bel… - Nature …, 2023 - nature.com
Colorectal cancer (CRC) is a leading cause of mortality worldwide. We conducted a genome-wide
association study meta-analysis of 100,204 CRC cases and 154,587 controls of …

Somatic POLE proofreading domain mutation, immune response, and prognosis in colorectal cancer: a retrospective, pooled biomarker study

…, VH Koelzer, MD Berger, S Castellví-Bel… - The lancet …, 2016 - thelancet.com
Background Precision cancer medicine depends on defining distinct tumour subgroups
using biomarkers that may occur at very modest frequencies. One such subgroup comprises …

Concepts in familial colorectal cancer: where do we stand and what is the future?

A Castells, S CastellvíBel, F Balaguer - Gastroenterology, 2009 - gastrojournal.org
Colorectal cancer (CRC) has one of the most familial components of all human cancers.
However, only a small fraction—up to 3%–5%—arise in the setting of the highly penetrant …

[HTML][HTML] Physical activity and risks of breast and colorectal cancer: a Mendelian randomisation analysis

…, PT Campbell, S Castellví-Bel… - Nature …, 2020 - nature.com
… active is associated with less weight gain and body fatness, and lower adiposity is associated
with lower risks of breast and colorectal cancer 15,16 . Since body size/adiposity is likely …

Risk of cancer in cases of suspected lynch syndrome without germline mutation

…, D Nicolás–Pérez, A Brea–Fernández, S CastellvíBel… - Gastroenterology, 2013 - Elsevier
… The molecular signature of LS is microsatellite instability (MSI), which is found in more than
95% of LS-associated CRCs. However, MSI is also present in up to 15% of sporadic CRCs …

[PDF][PDF] Genome-wide modeling of polygenic risk score in colorectal cancer risk

…, S Castellví-Bel, S Ogino, SI Berndt, S Bézieau… - The American journal of …, 2020 - cell.com
… As it is likely that thousands of genetic variants contribute to CRC risk, it is clinically important
to investigate whether these genetic variants can be used jointly for CRC risk prediction. In …

Comparison between universal molecular screening for Lynch syndrome and revised Bethesda guidelines in a large population-based cohort of patients with …

…, C Sánchez-Fortún, N Acame, S Castellví-Bel… - Gut, 2012 - gut.bmj.com
… gene is not found, the cause of MMR deficiency is unknown but probably it is not sporadic.
Another group of cancers where the cause of MMR gene silencing is unclear is when there is