PMID- 19092297
OWN - NLM
STAT- MEDLINE
DCOM- 20090227
LR  - 20211020
IS  - 1720-8386 (Electronic)
IS  - 0391-4097 (Linking)
VI  - 31
IP  - 10
DP  - 2008 Oct
TI  - The genetic ascertainment of multiple endocrine neoplasia type 1 syndrome by 
      ancient DNA analysis.
PG  - 905-9
AB  - Multiple endocrine neoplasia type 1 (MEN1) is a rare autosomal dominant inherited 
      endocrine cancer syndrome characterised by parathyroid, pancreas, and anterior 
      pituitary tumors. The disease responsible gene, MEN1, was identified in 1997 and 
      localizes to chromosome 11q13 in a minimal 600 kb interval between PYGM and 
      D11S449 loci. About 10-20% of MEN1 patients do not have any mutation in the 
      coding region and/or in the exon-intron junctions of the MEN1 gene. In this case, 
      familial haplotype analysis of the 11q13 region, in at least two generations of 
      affected members, is the only possible genetic ascertainment of the disease. We 
      performed a microsatellite haplotype analysis at 11q13 region in 8 living and 1 
      deceased member of a MEN1 Italian family without any detected germline mutation 
      of the MEN1 gene. The application of forensic techniques for ancient DNA analysis 
      made it possible to identify the familial disease-associated haplotype and 
      demonstrated that MEN1 disease haplotype family history can be reconstructed even 
      when one or more family members are deceased. Identification of MEN1 disease 
      haplotype is helpful in the clinical management of patients and relatives in 
      families without any mutation of the MEN1 gene. Genetic screening allows the 
      identification of individuals who are at risk before the development of clinical 
      symptoms, limiting invasive annual cancer surveillance only to genetically 
      positive individuals and making it possible to avoid further clinical screenings 
      in non-carriers.
FAU - Marini, F
AU  - Marini F
AD  - Regional Center for Hereditary Endocrine Tumours, Department of Internal 
      Medicine, University of Florence, Florence, Italy.
FAU - Carbonell Sala, S
AU  - Carbonell Sala S
FAU - Falchetti, A
AU  - Falchetti A
FAU - Caramelli, D
AU  - Caramelli D
FAU - Brandi, M L
AU  - Brandi ML
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - Italy
TA  - J Endocrinol Invest
JT  - Journal of endocrinological investigation
JID - 7806594
RN  - 0 (DNA, Mitochondrial)
SB  - IM
MH  - Adult
MH  - Child
MH  - DNA, Mitochondrial/analysis
MH  - Female
MH  - Femur/chemistry
MH  - Forensic Anthropology/*methods
MH  - Haplotypes
MH  - Humans
MH  - Male
MH  - Microsatellite Repeats/genetics
MH  - Multiple Endocrine Neoplasia Type 1/*genetics
MH  - Pedigree
EDAT- 2008/12/19 09:00
MHDA- 2009/02/28 09:00
CRDT- 2008/12/19 09:00
PHST- 2008/12/19 09:00 [entrez]
PHST- 2008/12/19 09:00 [pubmed]
PHST- 2009/02/28 09:00 [medline]
AID - 5016 [pii]
AID - 10.1007/BF03346440 [doi]
PST - ppublish
SO  - J Endocrinol Invest. 2008 Oct;31(10):905-9. doi: 10.1007/BF03346440.