PMID- 21454234
OWN - NLM
STAT- MEDLINE
DCOM- 20120126
LR  - 20231115
IS  - 1934-2403 (Electronic)
IS  - 1530-891X (Linking)
VI  - 17 Suppl 3
DP  - 2011 Jul-Aug
TI  - Role of multiple endocrine neoplasia type 1 mutational analysis in clinical 
      practice.
PG  - 8-17
LID - 10.4158/EP10379.RA [doi]
AB  - OBJECTIVE: To review and assess the role of MEN1 mutational analysis in clinical 
      practice. METHODS: Articles relevant to MEN1 mutation testing and screening were 
      reviewed. RESULTS: Multiple endocrine neoplasia type 1 (MEN 1) is an autosomal 
      dominant disorder characterized by the combined occurrence of tumors of the 
      parathyroid glands, pancreatic islet cells, and anterior pituitary gland. MEN 1 
      is associated with premature mortality attributable primarily to malignant 
      pancreatic neuroendocrine tumors and foregut carcinoids. The MEN1 gene is located 
      on chromosome 11q13, and germline MEN1 mutations are highly penetrant and lead to 
      tumor development in >99% of patients by the age of 45 years. Current consensus 
      guidelines recommend an integrated program of mutational analysis of the MEN1 
      gene and a combination of biochemical and radiologic screening to detect the 
      early development of tumors and thereby reduce the morbidity and mortality 
      associated with MEN 1. Our results reveal that MEN1 mutational analysis helps to 
      confirm the clinical diagnosis, identify asymptomatic family members who have a 
      MEN1 mutation and require screening from an early age, and identify the 50% of 
      family members who do not have the MEN1 mutation and can therefore have the 
      burden of screening and anxiety regarding potential disease removed. Moreover, 
      MEN1 mutational analysis helps to resolve diagnostic challenges due to 
      phenocopies, which occur in 5% to 10% of families with MEN 1. CONCLUSION: MEN1 
      mutational analysis facilitates clinical management and provides benefits to 
      patients and families with MEN 1.
FAU - Newey, Paul J
AU  - Newey PJ
AD  - Academic Endocrine Unit, Nuffield Department of Clinical Medicine, University of 
      Oxford, Churchill Hospital, Oxford, United Kingdom.
FAU - Thakker, Rajesh V
AU  - Thakker RV
LA  - eng
GR  - G0601423/MRC_/Medical Research Council/United Kingdom
GR  - G1000467/MRC_/Medical Research Council/United Kingdom
GR  - G9825289/MRC_/Medical Research Council/United Kingdom
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Review
PL  - United States
TA  - Endocr Pract
JT  - Endocrine practice : official journal of the American College of Endocrinology 
      and the American Association of Clinical Endocrinologists
JID - 9607439
RN  - 0 (MEN1 protein, human)
RN  - 0 (Proto-Oncogene Proteins)
SB  - IM
MH  - DNA Mutational Analysis
MH  - Humans
MH  - Multiple Endocrine Neoplasia Type 1/*genetics/pathology
MH  - Proto-Oncogene Proteins/genetics
EDAT- 2011/04/02 06:00
MHDA- 2012/01/27 06:00
CRDT- 2011/04/02 06:00
PHST- 2011/04/02 06:00 [entrez]
PHST- 2011/04/02 06:00 [pubmed]
PHST- 2012/01/27 06:00 [medline]
AID - S1530-891X(20)41720-3 [pii]
AID - 10.4158/EP10379.RA [doi]
PST - ppublish
SO  - Endocr Pract. 2011 Jul-Aug;17 Suppl 3:8-17. doi: 10.4158/EP10379.RA.