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Sökning: onr:"swepub:oai:DiVA.org:uu-369904" > A retrospective stu...

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FältnamnIndikatorerMetadata
00007466naa a2200577 4500
001oai:DiVA.org:uu-369904
003SwePub
008181218s2018 | |||||||||||000 ||eng|
009oai:prod.swepub.kib.ki.se:139416303
009oai:DiVA.org:liu-152503
0247 a https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-3699042 URI
0247 a https://doi.org/10.1186/s13053-018-0098-92 DOI
0247 a http://kipublications.ki.se/Default.aspx?queryparsed=id:1394163032 URI
0247 a https://urn.kb.se/resolve?urn=urn:nbn:se:liu:diva-1525032 URI
040 a (SwePub)uud (SwePub)kid (SwePub)liu
041 a engb eng
042 9 SwePub
072 7a ref2 swepub-contenttype
072 7a art2 swepub-publicationtype
1001 a Karimi, Masoudu Karolinska Institutet,Karolinska Univ Hosp, Dept Oncol, Stockholm, Sweden,Department of Oncology, Karolinska University Hospital, Stockholm, Sweden4 aut
2451 0a A retrospective study of extracolonic, non-endometrial cancer in Swedish Lynch syndrome families
264 c 2018-10-23
264 1b BMC,c 2018
338 a electronic2 rdacarrier
520 a 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.
650 7a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicinx Cancer och onkologi0 (SwePub)302032 hsv//swe
650 7a MEDICAL AND HEALTH SCIENCESx Clinical Medicinex Cancer and Oncology0 (SwePub)302032 hsv//eng
653 a Lynch syndrome
653 a MMR genes
653 a Tumour spectrum
653 a Extracolonic
7001 a von Salome, Jennyu 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, Sweden4 aut
7001 a Aravidis, Christosu Uppsala universitet,Medicinsk genetik och genomik,Department of Clinical Genetics, Akademiska University Hospital, Uppsala, Sweden4 aut0 (Swepub:uu)chrar109
7001 a Silander, Gustavu Norrlands Univ Hosp, Dept Clin Genet, Umea, Sweden,Department of Clinical Genetics, Norrlands University Hospital, Umeå, Sweden4 aut
7001 a Stenmark Askmalm, Marieu 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, Sweden4 aut0 (Swepub:liu)marst93
7001 a Henriksson, Isabelleu 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, Sweden4 aut
7001 a Gebre-Medhin, Samuelu 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, Sweden4 aut
7001 a Frodin, Jan-Eriku Karolinska Institutet,Karolinska Univ Hosp, Dept Oncol, Stockholm, Sweden,Department of Oncology, Karolinska University Hospital, Stockholm, Sweden4 aut
7001 a Bjorck, Eriku 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, Sweden4 aut
7001 a Lagerstedt-Robinson, Kristinau 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, Sweden4 aut
7001 a Lindblom, Annikau 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, Sweden4 aut
7001 a Tham, Emmau 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, Sweden4 aut
7102 a Karolinska Institutetb Karolinska Univ Hosp, Dept Oncol, Stockholm, Sweden4 org
7730 t Hereditary Cancer in Clinical Practiced : BMCg 16q 16x 1731-2302x 1897-4287
8564 u https://uu.diva-portal.org/smash/get/diva2:1272189/FULLTEXT01.pdfx primaryx Raw objecty fulltext:print
8564 u https://hccpjournal.biomedcentral.com/track/pdf/10.1186/s13053-018-0098-9
8564 u https://liu.diva-portal.org/smash/get/diva2:1299661/FULLTEXT01.pdfx primaryx Raw objecty fulltext:print
8564 8u https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-369904
8564 8u https://doi.org/10.1186/s13053-018-0098-9
8564 8u http://kipublications.ki.se/Default.aspx?queryparsed=id:139416303
8564 8u https://urn.kb.se/resolve?urn=urn:nbn:se:liu:diva-152503

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