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A retrospective study of extracolonic, non-endometrial cancer in Swedish Lynch syndrome families

Karimi, Masoud (författare)
Karolinska Institutet,Karolinska Univ Hosp, Dept Oncol, Stockholm, Sweden,Department of Oncology, Karolinska University Hospital, Stockholm, Sweden
von Salome, Jenny (författare)
Karolinska Institutet,Karolinska Univ Hosp, Dept Clin Genet, S-17176 Stockholm, Sweden;Karolinska Inst, Dept Mol Med & Surg, Stockholm, Sweden,Department of Clinical Genetics, Karolinska University Hospital, Solna, 171 76 Stockholm, Sweden; 3Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden
Aravidis, Christos (författare)
Uppsala universitet,Medicinsk genetik och genomik,Department of Clinical Genetics, Akademiska University Hospital, Uppsala, Sweden
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Silander, Gustav (författare)
Norrlands Univ Hosp, Dept Clin Genet, Umea, Sweden,Department of Clinical Genetics, Norrlands University Hospital, Umeå, Sweden
Stenmark Askmalm, Marie (författare)
Linkopings Univ Hosp, Dept Clin Genet, Linkoping, Sweden;Off Med Serv, Dept Clin Genet, Div Lab Med, Lund, Sweden,Region Östergötland, Klinisk genetik,Department of Clinical Genetics, Office for Medical Services, Division of Laboratory Medicine, Lund, Sweden
Henriksson, Isabelle (författare)
Lund Univ, Div Clin Genet, Dept Lab Med, Lund, Sweden;Off Med Serv, Dept Clin Genet, Div Lab Med, Lund, Sweden,Division of Clinical Genetics, Department of Laboratory Medicine, Lund University, Lund, Sweden; 8Department of Clinical Genetics, Office for Medical Services, Division of Laboratory Medicine, Lund, Sweden
Gebre-Medhin, Samuel (författare)
Lund Univ, Div Clin Genet, Dept Lab Med, Lund, Sweden;Off Med Serv, Dept Clin Genet, Div Lab Med, Lund, Sweden,Division of Clinical Genetics, Department of Laboratory Medicine, Lund University, Lund, Sweden; 8Department of Clinical Genetics, Office for Medical Services, Division of Laboratory Medicine, Lund, Sweden
Frodin, Jan-Erik (författare)
Karolinska Institutet,Karolinska Univ Hosp, Dept Oncol, Stockholm, Sweden,Department of Oncology, Karolinska University Hospital, Stockholm, Sweden
Bjorck, Erik (författare)
Karolinska Institutet,Karolinska Univ Hosp, Dept Clin Genet, S-17176 Stockholm, Sweden;Karolinska Inst, Dept Mol Med & Surg, Stockholm, Sweden,Department of Clinical Genetics, Karolinska University Hospital, Solna, 171 76 Stockholm, Sweden; 3Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden
Lagerstedt-Robinson, Kristina (författare)
Karolinska Institutet,Karolinska Univ Hosp, Dept Clin Genet, S-17176 Stockholm, Sweden;Karolinska Inst, Dept Mol Med & Surg, Stockholm, Sweden,Department of Clinical Genetics, Karolinska University Hospital, Solna, 171 76 Stockholm, Sweden; 3Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden
Lindblom, Annika (författare)
Karolinska Institutet,Karolinska Univ Hosp, Dept Clin Genet, S-17176 Stockholm, Sweden;Karolinska Inst, Dept Mol Med & Surg, Stockholm, Sweden,Department of Clinical Genetics, Karolinska University Hospital, Solna, 171 76 Stockholm, Sweden; 3Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden
Tham, Emma (författare)
Karolinska Institutet,Karolinska Univ Hosp, Dept Clin Genet, S-17176 Stockholm, Sweden;Karolinska Inst, Dept Mol Med & Surg, Stockholm, Sweden,Department of Clinical Genetics, Karolinska University Hospital, Solna, 171 76 Stockholm, Sweden; 3Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden
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 (creator_code:org_t)
2018-10-23
2018
Engelska.
Ingår i: Hereditary Cancer in Clinical Practice. - : BMC. - 1731-2302 .- 1897-4287. ; 16
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  • Tidskriftsartikel (refereegranskat)
Abstract Ämnesord
Stäng  
  • BackgroundLynch Syndrome is an autosomal dominant cancer syndrome caused by pathogenic germ-line variants in one of the DNA-mismatch-repair (MMR) genes MLH1, MSH2, MSH6 or PMS2. Carriers are predisposed to colorectal and endometrial cancer, but also other cancer types. The purpose of this retrospective study was to characterize the tumour spectrum of the Swedish Lynch syndrome families.MethodsData were obtained from genetically verified 235 Lynch families from five of the six health care regions in Sweden. The material was stratified for gender, primary cancer, age and mutated gene and the relative proportions of specific cancer types were compared to those in the general population.ResultsA total of 1053 family members had 1493 cancer diagnoses of which 1011 were colorectal or endometrial cancer. Individuals with pathogenic variants in MLH1 and MSH2 comprised 78% of the cohort. Among the 482 non-colorectal/non-endometrial cancer diagnoses, MSH2 carriers demonstrated a significantly increased proportion of urinary tract, gastric, small bowel, ovarian and non-melanoma skin cancer compared to the normal population. MLH1 carriers had an elevated proportion of gastrointestinal cancers (gastric, small bowel, pancreas), while MSH6 carriers had more ovarian cancer than expected. Gastric cancer was predominantly noted in older generations.ConclusionLynch syndrome confers an increased risk for multiple cancers other than colorectal and endometrial cancer. The proportions of other cancers vary between different MMR genes, with highest frequency in MSH2-carriers. Gender and age also affect the tumour spectrum, demonstrating the importance of additional environmental and constitutional parameters in determining the predisposition for different cancer types.

Ämnesord

MEDICIN OCH HÄLSOVETENSKAP  -- Klinisk medicin -- Cancer och onkologi (hsv//swe)
MEDICAL AND HEALTH SCIENCES  -- Clinical Medicine -- Cancer and Oncology (hsv//eng)

Nyckelord

Lynch syndrome
MMR genes
Tumour spectrum
Extracolonic

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