Genetic Predisposition to Colorectal Cancer: How Many and Which Genes to Test?

F Rebuzzi, P Ulivi, G Tedaldi - International Journal of Molecular Sciences, 2023 - mdpi.com
Colorectal cancer is one of the most common tumors, and genetic predisposition is one of
the key risk factors in the development of this malignancy. Lynch syndrome and familial …

[HTML][HTML] Lynch syndrome

G Idos, L Valle - 2021 - europepmc.org
Lynch Syndrome - Abstract - Europe PMC Sign in | Create an account https://orcid.org Europe
PMC Menu About Tools Developers Help Contact us Helpdesk Feedback Twitter Blog Tech …

From APC to the genetics of hereditary and familial colon cancer syndromes

AP Olkinuora, PT Peltomäki, LA Aaltonen… - Human Molecular …, 2021 - academic.oup.com
Hereditary colorectal cancer (CRC) syndromes attributable to high penetrance mutations
represent 9–26% of young-onset CRC cases. The clinical significance of many of these …

Significance of rare variants in genes involved in the pathogenesis of Lynch syndrome

R Liccardo, M Lambiase, A Nolano… - International …, 2022 - spandidos-publications.com
The molecular characterization of patients with Lynch syndrome (LS) involves germline
testing to detect a deleterious mutation in one of the genes of the mismatch repair (MMR) …

[HTML][HTML] Current status of the genetic susceptibility in attenuated adenomatous polyposis

V Lorca, P Garre - World Journal of Gastrointestinal Oncology, 2019 - ncbi.nlm.nih.gov
Adenomatous polyposis (AP) is classified according to cumulative adenoma number in
classical AP (CAP) and attenuated AP (AAP). Genetic susceptibility is the major risk factor in …

[HTML][HTML] Attenuated adenomatous polyposis with MSH6 variation: Two case reports

GW Ha, MR Lee, AR Ahn, MJ Chung, KM Kim - Medicine, 2024 - journals.lww.com
Interventions: The 2 received genetic consultation; and, for follow-up purposes, both patients
agreed to be tested for an underlying genetic condition through next generation sequencing …

Evaluating the role of MLH3 p.Ser1188Ter variant in inherited breast cancer predisposition

S Koivuluoma, R Winqvist, R Keski-Filppula… - Genetics in …, 2020 - nature.com
Germline loss-of-function variants in mismatch repair (MMR) genes elevate risk for specific
cancer types, especially colorectal, endometrial, and gastric carcinomas. 1-3 Whether MMR …

Genetic Predisposition to Colorectal Cancer: How Many and Which Genes to Test

F Rebuzzi, P Ulivi, G Tedaldi - Int. J. Mol. Sci - europepmc.org
Colorectal cancer is one of the most common tumors, and genetic predisposition is one of
the key risk factors in the development of this malignancy. Lynch syndrome and familial …

Estudio de la susceptibilidad genética en la poliposis adenomatosa atenuada

V Lorca Castellanos - 2024 - docta.ucm.es
Me gustaría empezar este apartado nombrando a la persona que me ha dado la
oportunidad de crecer y formarme científica, profesional y personalmente en el campo de la …

[PDF][PDF] Germline variants in the mismatch repair genes: Detection and phenotype

M Suerink - Oncology, 2016 - scholarlypublications …
Constitutional mismatch repair deficiency (CMMRD) is a rare childhood cancer
predisposition syndrome caused by biallelic germline mutations in one of four mismatch …