Associated Papers
Stratifying variant deleteriousness and trait-modulating effect under human recent adaptation using the FIND model.
Fan X et al.
Genome Biology, 2025
A novel insertion/deletion in APC promotor 1B is associated with both gastric and colon polyposis.
Fann F et al.
Familial Cancer, 2025
A review of APC somatic mosaicism and specific APC variants - I1307K and promotor variants.
Shur S et al.
Familial Cancer, 2025
Spectrum and genotyping strategies of "dark" genetic matter in germline susceptibility genes of tumor syndromes.
Bozsik A et al.
Critical Reviews in Oncology/hematology, 2025
Large-scale application of ClinGen-InSiGHT APC-specific ACMG/AMP variant classification criteria leads to substantial reduction in VUS.
Yin X et al.
American Journal of Human Genetics, 2024
A case of an unreported point mutation in promoter 1B of the adenomatous polyposis coli gene, which is responsible for gastric adenocarcinoma and proximal polyposis of the stomach.
Ishida A et al.
Clinical Journal of Gastroenterology, 2024
Gastrointestinal manifestations in patients with gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS): a systematic review with analysis of individual patient data.
Skat-Rørdam PA et al.
Hereditary Cancer in Clinical Practice, 2024
Two families with gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS): case reports and literature review.
Sakuma T et al.
Journal of Gastrointestinal Oncology, 2023
The comprehensive review of gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS) from diagnosis and treatment.
Iwatsuki M et al.
Annals of Gastroenterological Surgery, 2023
A curated census of pathogenic and likely pathogenic UTR variants and evaluation of deep learning models for variant effect prediction.
Bohn E et al.
Frontiers in Molecular Biosciences, 2023
Mutational landscape of gastric adenocarcinoma in Latin America: A genetic approach for precision medicine.
Cerrato-Izaguirre D et al.
Genes & Diseases, 2022
Gastric Adenocarcinoma and Proximal Polyposis of the Stomach in a Hispanic Pediatric Patient With APC Gene Variant c.-191T>G.
Roberts AG et al.
Jpgn Reports, 2021
Role of a Rare Variant in APC Gene Promoter 1B Region in Classic Familial Adenomatous Polyposis.
Yang M et al.
Digestion, 2021
Novel Genetic Causes of Gastrointestinal Polyposis Syndromes.
Jelsig AM et al.
The Application of Clinical Genetics, 2021
Genetic Gastric Cancer Risk Syndromes.
Lerner BA et al.
Current Treatment Options in Gastroenterology, 2020
An Update on Inherited Colon Cancer and Gastrointestinal Polyposis.
Plevová P
Klinicka Onkologie : Casopis Ceske a Slovenske Onkologicke Spolecnosti, 2019
GAPPS - Gastric Adenocarcinoma and Proximal Polyposis of the Stomach Syndrome in 8 Families Tested at Masaryk Memorial Cancer Institute - Prevention and Prophylactic Gastrectomies.
Foretová L et al.
Klinicka Onkologie : Casopis Ceske a Slovenske Onkologicke Spolecnosti, 2019
Gastric adenocarcinoma and proximal polyposis of the stomach: diagnosis and clinical perspectives.
Rudloff U
Clinical and Experimental Gastroenterology, 2018
The first European family with gastric adenocarcinoma and proximal polyposis of the stomach: case report and review of the literature.
Repak R et al.
Gastrointestinal Endoscopy, 2016
Point Mutations in Exon 1B of APC Reveal Gastric Adenocarcinoma and Proximal Polyposis of the Stomach as a Familial Adenomatous Polyposis Variant.
Li J et al.
American Journal of Human Genetics, 2016
[Hereditary nonpolyposis colorectal cancer].
Plevová P et al.
Klinicka Onkologie : Casopis Ceske a Slovenske Onkologicke Spolecnosti, 2009
[Familial adenomatous polyposis].
Plevová P et al.
Klinicka Onkologie : Casopis Ceske a Slovenske Onkologicke Spolecnosti, 2009
[Von Hippel-Lindau disease].
Plevová P et al.
Klinicka Onkologie : Casopis Ceske a Slovenske Onkologicke Spolecnosti, 2009
[Cowden syndrome].
Puchmajerová A et al.
Klinicka Onkologie : Casopis Ceske a Slovenske Onkologicke Spolecnosti, 2009