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Human mutation, ISSN 1059-7794, 2016, Volume 37, Issue 11, pp. 1162 - 1179
Journal Article
Cancer epidemiology, biomarkers & prevention, ISSN 1055-9965, 2019, Volume 28, Issue 6, pp. 1010 - 1014
BACKGROUND: PMS2-associated Lynch syndrome is characterized by a relatively low colorectal cancer penetrance compared with other Lynch syndromes. However, age... 
HETEROGENEITY | NO EVIDENCE | RISK | PUBLIC, ENVIRONMENTAL & OCCUPATIONAL HEALTH | ONCOLOGY | COLORECTAL-CANCER
Journal Article
Familial Cancer, ISSN 1389-9600, 07/2019, Volume 18, Issue 3, pp. 369 - 376
Von Hippel-Lindau (VHL) disease is an autosomal dominant rare tumor syndrome characterized by high penetrance. VHL mutation carriers develop numerous... 
VHL-related manifestations | Surveillance | Disease progression | MUTATION | CENTRAL-NERVOUS-SYSTEM | HEMANGIOBLASTOMAS | MODEL | NATURAL-HISTORY | PROGRESSION | Von Hippel-Lindau disease | PREGNANCY | ONCOLOGY | GENETICS & HEREDITY | Analysis | Medical genetics | Kidneys | Central nervous system | Retina | VHL protein | Mutation | Pancreas | Neoplasia | Original
Journal Article
Familial Cancer, ISSN 1389-9600, 07/2019, Volume 18, Issue 3, p. 369
Von Hippel-Lindau (VHL) disease is an autosomal dominant rare tumor syndrome characterized by high penetrance. VHL mutation carriers develop numerous... 
VHL-related manifestations | Surveillance | Genetics(clinical) | Disease progression | Genetics | Oncology | Cancer Research | Journal Article | Von Hippel-Lindau disease
Journal Article
Journal of Clinical Oncology, ISSN 0732-183X, 2018, Volume 36, Issue 29, pp. 2961 - 2968
Journal Article
Gastroenterology, ISSN 0016-5085, 09/2018, Volume 155, Issue 3, pp. 844 - 851
BACKGROUND & AIMS: Germline variants in mismatch repair genes MLH1, MSH2 (EPCAM), MSH6, or PMS2 cause Lynch syndrome. Patients with these variants have an... 
Wnt Signaling | MISMATCH-REPAIR DEFICIENCY | Mismatch Repair | Colon Cancer | CATENIN | CARCINOMAS | Genetics | INTEGRATIVE GENOMICS VIEWER | MUTATIONS | TUMORIGENESIS | HUMAN CANCER
Journal Article
Familial cancer, ISSN 1389-9600, 2018, Volume 17, Issue 4, pp. 507 - 515
Journal Article
CANCER EPIDEMIOLOGY BIOMARKERS & PREVENTION, ISSN 1055-9965, 06/2019, Volume 28, Issue 6, pp. 1010 - 1014
Background: PMS2-associated Lynch syndrome is characterized by a relatively low colorectal cancer penetrance compared with other Lynch syndromes. However, age... 
HETEROGENEITY | COLORECTAL-CANCER | NO EVIDENCE | RISK
Journal Article
Gastroenterology, ISSN 0016-5085, 2018, Volume 155, Issue 3, pp. 844 - 851
Background & Aims: Germline variants in mismatch repair genes MLH1, MSH2 (EPCAM), MSH6, or PMS2 cause Lynch syndrome. Patients with these variants have an... 
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Journal Article
Cancer Epidemiology Biomarkers and Prevention, ISSN 1055-9965, 2019, Volume 28, Issue 6, pp. 1010 - 1014
Background: PMS2-associated Lynch syndrome is characterized by a relatively low colorectal cancer penetrance compared with other Lynch syndromes. However, age... 
Journal Article
Journal Article
European Journal of Cancer, ISSN 0959-8049, 2017, Volume 80, p. 48
INTRODUCTION: Recognising a tumour predisposition syndrome (TPS) in childhood cancer patients is of major clinical relevance. The presence of a TPS may be... 
Genetic predisposition to disease | Review | Paediatrics | Consensus | Journal Article | Cancer
Journal Article
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