SwePub
Sök i LIBRIS databas

  Utökad sökning

onr:"swepub:oai:gup.ub.gu.se/245463"
 

Sökning: onr:"swepub:oai:gup.ub.gu.se/245463" > Mismatch repair gen...

Mismatch repair gene mutation spectrum in the Swedish Lynch syndrome population

Lagerstedt-Robinson, K. (författare)
Rohlin, Anna (författare)
University of Gothenburg,Gothenburg University,Göteborgs universitet,Institutionen för biomedicin, avdelningen för medicinsk genetik och klinisk genetik,Institute of Biomedicine, Department of Medical and Clinical Genetics,Sahlgrens University Hospital, Sweden; University of Gothenburg, Sweden,Sahlgrenska University Hospital,Sahlgrens Univ Hosp, Dept Clin Pathol & Genet, SE-41345 Gothenburg, Sweden.;Univ Gothenburg, Sahlgrenska Acad, Inst Biomed, Dept Clin Genet, SE-40530 Gothenburg, Sweden.
Aravidis, C. (författare)
visa fler...
Melin, B. (författare)
Nordling, Margareta, 1962 (författare)
Gothenburg University,Göteborgs universitet,Institutionen för biomedicin, avdelningen för medicinsk genetik och klinisk genetik,Institute of Biomedicine, Department of Medical and Clinical Genetics,Sahlgrens University Hospital, Sweden; University of Gothenburg, Sweden,Sahlgrenska University Hospital,Sahlgrens Univ Hosp, Dept Clin Pathol & Genet, SE-41345 Gothenburg, Sweden.;Univ Gothenburg, Sahlgrenska Acad, Inst Biomed, Dept Clin Genet, SE-40530 Gothenburg, Sweden.
Stenmark-Askmalm, M. (författare)
Lindblom, A. (författare)
Nilbert, M. E. F. (författare)
Lund University, Sweden; University of Copenhagen, Denmark,Lund Univ, Div Oncol & Pathol, Dept Clin Sci, SE-22381 Lund, Sweden.;Univ Copenhagen, Hvidovre Hosp, Clin Res Ctr, DK-2650 Hvidovre, Denmark.
Aravidis, Christos (författare)
Uppsala universitet,Uppsala University,Medicinsk genetik och genomik
Stenmark Askmalm, Marie (författare)
Linköpings universitet,Avdelningen för cellbiologi,Medicinska fakulteten,Region Östergötland, Klinisk patologi och klinisk genetik,University of Lund Hospital, Sweden
Lagerstedt-Robinson, Kristina (författare)
Karolinska Institutet,Karolinska Inst, Dept Mol Med & Surg, SE-17176 Stockholm, Sweden.;Karolinska Univ Hosp, Dept Clin Genet, L5 03, SE-17176 Stockholm, Sweden.
Lindblom, Annika (författare)
Karolinska Institutet,Karolinska Inst, Dept Mol Med & Surg, SE-17176 Stockholm, Sweden.;Karolinska Univ Hosp, Dept Clin Genet, L5 03, SE-17176 Stockholm, Sweden.
Melin, Beatrice (författare)
Umeå universitet,Umeå University,Onkologi,Umea Univ, Div Oncol, Dept Radiat Sci, SE-90187 Umea, Sweden.
Nilbert, Mef (författare)
Lund University,Lunds universitet,Bröstca-genetik,Sektion I,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Breastca-genetics,Section I,Department of Clinical Sciences, Lund,Faculty of Medicine,University of Copenhagen
Stenmark-Askmalm, Marie (författare)
Linköping University,Skåne University Hospital,Linkoping Univ, Dept Oncol, SE-58183 Linkoping, Sweden.;Univ Lund Hosp, Dept Clin Genet, SE-22185 Lund, Sweden.
Nordling, M (författare)
Lagerstedt-Robinson, K (författare)
Karolinska Institutet
Rohlin, A (författare)
Melin, B (författare)
Aravidis, C (författare)
Lindblom, A (författare)
Karolinska Institutet
Nilbert, MEF (författare)
Stenmark-Askmalm, M (författare)
visa färre...
 (creator_code:org_t)
 
visa fler...
 
visa färre...
SPANDIDOS PUBL LTD, 2016
2016
Engelska.
Ingår i: Oncology Reports. - : SPANDIDOS PUBL LTD. - 1021-335X .- 1791-2431. ; 36:5, s. 2823-2835
  • Tidskriftsartikel (refereegranskat)
Abstract Ämnesord
Stäng  
  • Lynch syndrome caused by constitutional mismatch-repair defects is one of the most common hereditary cancer syndromes with a high risk for colorectal, endometrial, ovarian and urothelial cancer. Lynch syndrome is caused by mutations in the mismatch repair (MMR) genes i.e., MLH1, MSH2, MSH6 and PMS2. After 20 years of genetic counseling and genetic testing for Lynch syndrome, we have compiled the mutation spectrum in Sweden with the aim to provide a population-based perspective on the contribution from the different MMR genes, the various types of mutations and the influence from founder mutations. Mutation data were collected on a national basis from all laboratories involved in genetic testing. Mutation analyses were performed using mainly Sanger sequencing and multiplex ligation-dependent probe amplification. A total of 201 unique disease-predisposing MMR gene mutations were identified in 369 Lynch syndrome families. These mutations affected MLH1 in 40%, MSH2 in 36%, MSH6 in 18% and PMS2 in 6% of the families. A large variety of mutations were identified with splice site mutations being the most common mutation type in MLH1 and frameshift mutations predominating in MSH2 and MSH6. Large deletions of one or several exons accounted for 21% of the mutations in MLH1 and MSH2 and 22% in PMS2, but were rare (4%) in MSH6. In 66% of the Lynch syndrome families the variants identified were private and the effect from founder mutations was limited and predominantly related to a Finnish founder mutation that accounted for 15% of the families with mutations in MLH1. In conclusion, the Swedish Lynch syndrome mutation spectrum is diverse with private MMR gene mutations in two-thirds of the families, has a significant contribution from internationally recognized mutations and a limited effect from founder mutations.

Ämnesord

MEDICIN OCH HÄLSOVETENSKAP  -- Medicinska och farmaceutiska grundvetenskaper (hsv//swe)
MEDICIN OCH HÄLSOVETENSKAP  -- Klinisk medicin (hsv//swe)
MEDICAL AND HEALTH SCIENCES  -- Basic Medicine (hsv//eng)
MEDICAL AND HEALTH SCIENCES  -- Clinical Medicine (hsv//eng)

Nyckelord

HNPCC
MLH1
MSH2
MSH6
EPCAM
hereditary colorectal cancer
Lynch syndrome
NONPOLYPOSIS COLORECTAL-CANCER
ASHKENAZI JEWISH POPULATION
AMERICAN
FOUNDER MUTATION
HEREDITARY COLON-CANCER
MSH6 MUTATIONS
PMS2
MUTATIONS
MLH1
REARRANGEMENTS
DELETIONS
RISK
HNPCC; MLH1; MSH2; MSH6; EPCAM; hereditary colorectal cancer; Lynch syndrome
Hereditary colorectal cancer

Publikations- och innehållstyp

ref (ämneskategori)
art (ämneskategori)

Hitta via bibliotek

Till lärosätets databas

 
pil uppåt Stäng

Kopiera och spara länken för att återkomma till aktuell vy