Guidelines for the clinical management of familial adenomatous polyposis (FAP)

Hans F. A. Vasen, Gabriela Möslein, Ángel Alonso, +28

Gut

Gastrointestinal OncologyFamilial Adenomatous PolyposisGeneticsMedicineGastroenterology +5

Familial adenomatous polyposis: desmoid tumours and lack of ophthalmic lesions (CHRPE) associated with APC mutations beyond codon 1444

Reiner Caspari, S Olschwang, Waltraut Friedl, +8

Human Molecular Genetics

Can <i>APC</i> mutation analysis contribute to therapeutic decisions in familial adenomatous polyposis? Experience from 680 FAP families

Waltraut Friedl

Gut

High proportion of large genomic STK11 deletions in Peutz-Jeghers syndrome

Stefan Aretz, Dietlinde Stienen, Siegfried Uhlhaas, +9

Human Mutation

Muir-Torre Phenotype Has a Frequency of DNA Mismatch-Repair-Gene Mutations Similar to That in Hereditary Nonpolyposis Colorectal Cancer Families Defined by the Amsterdam Criteria

Roland Kruse, Arno Rütten, Christof Lamberti, +10

The American Journal of Human Genetics

Genome InstabilitySomatic VariantGenetic DisorderMedicineGenetics +8

Familial adenomatous polyposis: mutation at codon 1309 and early onset of colon cancer

Reiner Caspari, Waltraut Friedl, Marion Mandl, +8

The Lancet

Somatic VariantCancer PathologyEarly OnsetFamilial Adenomatous PolyposisGenetics +8

<i>MUTYH</i>‐associated polyposis: 70 of 71 patients with biallelic mutations present with an attenuated or atypical phenotype

Stefan Aretz, Siegfried Uhlhaas, Heike Goergens, +7

International Journal of Cancer

Biallelic MutationsGenetic DisorderMedicineGeneticsPathogenesis +9

Juvenile polyposis: massive gastric polyposis is more common in MADH4 mutation carriers than in BMPR1A mutation carriers

Waltraut Friedl, Siegfried Uhlhaas, Karsten Schulmann, +11

Human Genetics

Developmental BiologyGenetic DisorderGeneticsPathogenesisGastroenterology +6

Loss of DNA Mismatch Repair Proteins in Skin Tumors From Patients With Muir–Torre Syndrome and MSH2 or MLH1 Germline Mutations

Micaela Mathiak, Arno Rütten, Elisabeth Mangold, +5

The American Journal of Surgical Pathology

Genome InstabilitySomatic VariantGenetic DisorderMedicineMts-related Skin Tumors +11

Attenuated familial adenomatous polyposis due to a mutation in the 3′ part of the APC gene. A clue for understanding the function of the APC protein

Waltraut Friedl, Stephanie Meuschel, C. Lamberti, +4

Human Genetics

Genetic DisorderFamilial Adenomatous PolyposisGeneticsApc ProteinPathology +7