Guidelines for the clinical management of Lynch syndrome (hereditary non-polyposis cancer)

HFA Vasen, G Möslein, A Alonso, I Bernstein… - Journal of medical …, 2007 - jmg.bmj.com
Lynch syndrome (hereditary non-polyposis colorectal cancer) is characterised by the
development of colorectal cancer, endometrial cancer and various other cancers, and is …

MUTYH-associated polyposis (MAP)

M Nielsen, H Morreau, HFA Vasen, FJ Hes - Critical reviews in oncology …, 2011 - Elsevier
The human mutY homologue (MUTYH) gene is responsible for inheritable polyposis and
colorectal cancer. This review discusses the molecular genetic aspects of the MUTYH gene …

Risk of malignant paraganglioma in SDHB-mutation and SDHD-mutation carriers: a systematic review and meta-analysis

LT van Hulsteijn, OM Dekkers, FJ Hes… - Journal of medical …, 2012 - jmg.bmj.com
The main objective of this study was to perform a systematic review and meta-analysis on
the risk of developing malignant paraganglioma (PGL) in SDHB-mutation and SDHD …

Revised guidelines for the clinical management of Lynch syndrome (HNPCC): recommendations by a group of European experts

HFA Vasen, I Blanco, K Aktan-Collan, JP Gopie… - Gut, 2013 - gut.bmj.com
Lynch syndrome (LS) is characterised by the development of colorectal cancer, endometrial
cancer and various other cancers, and is caused by a mutation in one of the mismatch repair …

Expanded extracolonic tumor spectrum in MUTYH-associated polyposis

S Vogt, N Jones, D Christian, C Engel, M Nielsen… - Gastroenterology, 2009 - Elsevier
BACKGROUND & AIMS: MUTYH-associated polyposis (MAP) is characterized by a lifetime
risk of colorectal cancer of up to 100%. However, no systematic evaluation of extracolonic …

MAX Mutations Cause Hereditary and Sporadic Pheochromocytoma and Paraganglioma

N Burnichon, A Cascón, F Schiavi, NP Morales… - Clinical cancer …, 2012 - AACR
Purpose: Pheochromocytomas (PCC) and paragangliomas (PGL) are genetically
heterogeneous neural crest–derived neoplasms. Recently we identified germline mutations …

Risk of colorectal and endometrial cancers in EPCAM deletion-positive Lynch syndrome: a cohort study

MJE Kempers, RP Kuiper, CW Ockeloen… - The lancet …, 2011 - thelancet.com
Background Lynch syndrome is caused by germline mutations in MSH2, MLH1, MSH6, and
PMS2 mismatch-repair genes and leads to a high risk of colorectal and endometrial cancer …

SDHAF2 mutations in familial and sporadic paraganglioma and phaeochromocytoma

JP Bayley, HPM Kunst, A Cascon, ML Sampietro… - The lancet …, 2010 - thelancet.com
Background Paragangliomas and phaeochromocytomas are neuroendocrine tumours
associated frequently with germline mutations of SDHD, SDHC, and SDHB. Previous studies …

Risks of less common cancers in proven mutation carriers with lynch syndrome

C Engel, M Loeffler, V Steinke, N Rahner… - Journal of Clinical …, 2012 - research.rug.nl
Purpose Patients with Lynch syndrome are at high risk for colon and endometrial cancer, but
also at an elevated risk for other less common cancers. The purpose of this retrospective …

Lynch Syndrome Caused by Germline PMS2 Mutations: Delineating the Cancer Risk

SW Ten Broeke, RM Brohet, CM Tops… - Journal of Clinical …, 2015 - ascopubs.org
Purpose The clinical consequences of PMS2 germline mutations are poorly understood
compared with other Lynch-associated mismatch repair gene (MMR) mutations. The aim of …