PMID- 27075353
OWN - NLM
STAT- MEDLINE
DCOM- 20160711
LR  - 20160414
IS  - 0080-0015 (Print)
IS  - 0080-0015 (Linking)
VI  - 205
DP  - 2016
TI  - Diagnosis and Management of Hereditary Carcinoids.
PG  - 149-68
LID - 10.1007/978-3-319-29998-3_9 [doi]
AB  - Carcinoid tumours arise in cells of the diffuse neuroendocrine system and can 
      develop in a number of anatomical sites including the lungs and the 
      gastrointestinal tract. There has been a move away from the use of the term 
      carcinoid tumour to the more appropriate use of neuroendocrine tumour (NET) to 
      highlight the potential for invasion and metastasis associated with some NETs. 
      Although most cases are sporadic, 15-20% of cases are related to a hereditary 
      syndrome, the most common of these being multiple endocrine neoplasia 1 (MEN1). 
      Other hereditary syndromes include the following: von Hippel-Lindau (VHL), 
      neurofibromatosis 1 and tuberous sclerosis complex (TSC), which are all 
      associated with a germline mutation of the associated tumour suppressor gene and 
      an autosomal dominant inheritance pattern. Familial small intestinal NET (SI NET) 
      is a recently described condition which is also inherited in an autosomal 
      dominant manner. There appears to be more than one causative gene; thus far, only 
      the IPMK gene has been identified as a causative germline mutation. This was 
      identified by carrying out whole-exome sequencing of germline and tumour DNA in a 
      family with multiple members diagnosed with SI NET. Identification of NET 
      predisposition genes in other families via these methods will allow the 
      development of dedicated NET gene panels which can be used to screen NET patients 
      and at-risk relatives for hereditary mutations. Close surveillance of at-risk 
      individuals is important to detect NETs early when curative surgery can be 
      offered and the morbidity and mortality of metastatic NETs can be avoided.
FAU - Benafif, Sarah
AU  - Benafif S
AD  - The Institute of Cancer Research, Sutton, Surrey, UK.
AD  - Royal Marsden NHS Foundation Trust, Sutton, Surrey, UK.
FAU - Eeles, Rosalind
AU  - Eeles R
AD  - The Institute of Cancer Research, Sutton, Surrey, UK. Rosalind.Eeles@icr.ac.uk.
AD  - Royal Marsden NHS Foundation Trust, Sutton, Surrey, UK. Rosalind.Eeles@icr.ac.uk.
LA  - eng
PT  - Journal Article
PL  - Germany
TA  - Recent Results Cancer Res
JT  - Recent results in cancer research. Fortschritte der Krebsforschung. Progres dans 
      les recherches sur le cancer
JID - 0044671
SB  - IM
MH  - Carcinoid Tumor/*diagnosis/genetics/*therapy
MH  - Genetic Predisposition to Disease
MH  - Humans
MH  - Neoplastic Syndromes, Hereditary/*diagnosis/genetics/*therapy
OTO - NOTNLM
OT  - Carcinoid
OT  - Genetics
OT  - NET
OT  - Neuroendocrine tumour
OT  - Tumour suppressor gene
EDAT- 2016/04/15 06:00
MHDA- 2016/07/12 06:00
CRDT- 2016/04/15 06:00
PHST- 2016/04/15 06:00 [entrez]
PHST- 2016/04/15 06:00 [pubmed]
PHST- 2016/07/12 06:00 [medline]
AID - 10.1007/978-3-319-29998-3_9 [doi]
PST - ppublish
SO  - Recent Results Cancer Res. 2016;205:149-68. doi: 10.1007/978-3-319-29998-3_9.