PMID- 25841653
OWN - NLM
STAT- MEDLINE
DCOM- 20160610
LR  - 20211203
IS  - 1573-7292 (Electronic)
IS  - 1389-9600 (Print)
IS  - 1389-9600 (Linking)
VI  - 14
IP  - 3
DP  - 2015 Sep
TI  - Specific Alu elements involved in a significant percentage of copy number 
      variations of the STK11 gene in patients with Peutz-Jeghers syndrome.
PG  - 455-61
LID - 10.1007/s10689-015-9800-5 [doi]
AB  - Peutz-Jeghers syndrome (PJS) is a rare hereditary syndrome characterized by the 
      occurrence of hamartomatous polyps in the gastrointestinal tract, mucocutaneous 
      pigmentation and increased risk of cancer in multiple internal organs. PJS is 
      preconditioned by the manifestation of mutations in the STK11 gene. The majority 
      of detected STK11 changes are small scale mutations, however recent studies 
      showed the significant contribution of medium-sized changes commonly known as 
      copy number variations (CNVs). Here we present a novel 7001 bps deletion of STK11 
      gene fragment, in which we identified the presence of breakpoints (BPs) within 
      the Alu elements. Comparative meta-analysis with the 80 other CNV cases from 12 
      publications describing STK11 mutations in patients with PJS revealed the 
      participation of specific Alu elements in all deletions of exons 2-3 so far 
      described. Moreover, we have shown their involvement in the two other CNVs, 
      deletion of exon 2 and deletion of exon 1-3 respectively. Deletion of exons 2-3 
      of the STK11 gene may prove to be the most recurrent large rearrangement causing 
      PJS. In addition, the sequences present in its BPs may be involved in a formation 
      of a significant percentage of the remaining gene CNVs. This gives a new insight 
      into the conditioning of this rare disease and enables improvements in PJS 
      genetic diagnostics.
FAU - Borun, Pawel
AU  - Borun P
AD  - Institute of Human Genetics, Polish Academy of Science, Strzeszynska 32, 60-479, 
      Poznan, Poland.
FAU - De Rosa, Marina
AU  - De Rosa M
FAU - Nedoszytko, Boguslaw
AU  - Nedoszytko B
FAU - Walkowiak, Jaroslaw
AU  - Walkowiak J
FAU - Plawski, Andrzej
AU  - Plawski A
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Meta-Analysis
PT  - Research Support, Non-U.S. Gov't
PL  - Netherlands
TA  - Fam Cancer
JT  - Familial cancer
JID - 100898211
RN  - EC 2.7.11.1 (Protein Serine-Threonine Kinases)
RN  - EC 2.7.11.1 (STK11 protein, human)
RN  - EC 2.7.11.3 (AMP-Activated Protein Kinase Kinases)
SB  - IM
MH  - AMP-Activated Protein Kinase Kinases
MH  - Adult
MH  - *Alu Elements
MH  - Computer Simulation
MH  - *DNA Copy Number Variations
MH  - Exons
MH  - Female
MH  - Humans
MH  - Mutation
MH  - Peutz-Jeghers Syndrome/*genetics
MH  - Protein Serine-Threonine Kinases/*genetics
PMC - PMC4559094
EDAT- 2015/04/07 06:00
MHDA- 2016/06/11 06:00
PMCR- 2015/04/05
CRDT- 2015/04/06 06:00
PHST- 2015/04/06 06:00 [entrez]
PHST- 2015/04/07 06:00 [pubmed]
PHST- 2016/06/11 06:00 [medline]
PHST- 2015/04/05 00:00 [pmc-release]
AID - 9800 [pii]
AID - 10.1007/s10689-015-9800-5 [doi]
PST - ppublish
SO  - Fam Cancer. 2015 Sep;14(3):455-61. doi: 10.1007/s10689-015-9800-5.