Genetic predisposition to gastrointestinal polyposis: syndromes, tumour features, genetic testing, and clinical management

L Valle, KJ Monahan - The Lancet Gastroenterology & Hepatology, 2024 - thelancet.com
Gastrointestinal tract polyposis is characterised by the presence of multiple polyps,
particularly in the colorectum, and encompasses both cancer predisposition genetic …

Genotype–Phenotype Correlations in Autosomal Dominant and Recessive APC Mutation-Negative Colorectal Adenomatous Polyposis

LH Zhu, J Dong, WL Li, ZY Kou, J Yang - Digestive Diseases and …, 2023 - Springer
The most prevalent type of intestinal polyposis, colorectal adenomatous polyposis (CAP), is
regarded as a precancerous lesion of colorectal cancer with obvious genetic characteristics …

AXIN2 germline testing in a French cohort validates pathogenic variants as a rare cause of predisposition to colorectal polyposis and cancer

J Leclerc, M Beaumont, R Vibert… - Genes …, 2023 - Wiley Online Library
Only a few patients with germline AXIN2 variants and colorectal adenomatous polyposis or
cancer have been described, raising questions about the actual contribution of this gene to …

Congenital Tooth Agenesis and Risk of Early-Onset Cancer

SE Eiset, J Schraw, GV Sørensen… - JAMA network …, 2024 - jamanetwork.com
Importance There is some evidence that tooth agenesis (congenital absence of 1 or more
teeth) is associated with cancer risk, especially carcinomas of the colon and ovaries, but …

Rare germline variants in pancreatic cancer and multiple primary cancers: an autopsy study

H Fujitani, H Eguchi, Y Kochi, T Arai… - European Journal of …, 2023 - journals.lww.com
Background There is a lack of information on rare germline variants of pancreatic cancer-
predisposing genes. Risk genes for multiple primary cancers may overlap with those for …

Analysis of the Application of Professional Society Screening Guidelines for Colorectal Polyposis Syndromes at a Single Institution

M Kozak, D Negrete, BL Balzer, S Gaddam, M Guindi… - Modern Pathology, 2024 - Elsevier
Several professional society guidelines suggest germline genetic testing for colorectal
polyposis syndromes in patients with≥ 10 lifetime adenomatous polyps. This study …

Facial Features of Hereditary Cancer Predisposition

A Horton, W Fostier, I Winship, N Rajan - JCO Oncology Practice, 2024 - ascopubs.org
In the age of telehealth medicine, an individual's facial features may provide the only
physical clues signaling the presence of a heritable cancer predisposition syndrome. These …

A novel pathogenic frameshift variant in AXIN2 in a man with polyposis and hypodontia

MF Broekema, EJW Redeker, MT Uiterwaal… - Hereditary cancer in …, 2023 - Springer
Background WNT signaling is pivotal in embryogenesis and tissue homeostasis. Aberrant
WNT signaling, due to mutations in components of this pathway, contributes to the …

Genetic predisposition to polyposis syndromes

N García-Simón, F Valentín, A Romero - Clinical and Translational …, 2025 - Springer
Hereditary polyposis syndromes are significant contributors to colorectal cancer (CRC).
These syndromes are characterized by the development of various types and numbers of …

Updated European guidelines for clinical management of familial adenomatous polyposis (FAP), MUTYH-associated polyposis (MAP), gastric adenocarcinoma …

G Zaffaroni, A Mannucci, L Koskenvuo… - British Journal of …, 2024 - academic.oup.com
Background Hereditary adenomatous polyposis syndromes, including familial adenomatous
polyposis and other rare adenomatous polyposis syndromes, increase the lifetime risk of …