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Merged testing for ...
Merged testing for colorectal cancer syndromes and re-evaluation of genetic variants improve diagnostic yield: Results from a nationwide prospective cohort
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- Svensson, Sara (author)
- Lund University,Lunds universitet,Avdelningen för klinisk genetik,Institutionen för laboratoriemedicin,Medicinska fakulteten,Division of Clinical Genetics,Department of Laboratory Medicine,Faculty of Medicine
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- Zagoras, Theofanis (author)
- Gothenburg University,Göteborgs universitet,Institutionen för biomedicin, avdelningen för laboratoriemedicin,Department of Laboratory Medicine,Department of Laboratory Medicine, Institute of Biomedicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden; Department of Clinical Genetics and Genomics, Sahlgrenska University Hospital, Gothenburg, Sweden,Univ Gothenburg, Sahlgrenska Acad, Inst Biomed, Dept Lab Med, Gothenburg, Sweden.;Sahlgrens Univ Hosp, Dept Clin Genet & Genom, Gothenburg, Sweden.
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- Aravidis, Christos (author)
- Uppsala universitet,Institutionen för immunologi, genetik och patologi,Uppsala University Hospital
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- Askmalm, Marie Stenmark (author)
- Lund University,Lunds universitet,Pediatrik, Lund,Sektion V,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Avdelningen för klinisk genetik,Institutionen för laboratoriemedicin,Paediatrics (Lund),Section V,Department of Clinical Sciences, Lund,Faculty of Medicine,Division of Clinical Genetics,Department of Laboratory Medicine
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- Bjorck, E. (author)
- Karolinska Institutet,Karolinska Institute
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- Borg, Åke (author)
- Lund University,Lunds universitet,Bröstcancer-genetik,Sektion I,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Familjär bröstcancer,Forskargrupper vid Lunds universitet,LUCC: Lunds universitets cancercentrum,Övriga starka forskningsmiljöer,Breastcancer-genetics,Section I,Department of Clinical Sciences, Lund,Faculty of Medicine,Familial Breast Cancer,Lund University Research Groups,LUCC: Lund University Cancer Centre,Other Strong Research Environments
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- Kuchinskaya, E. (author)
- Karolinska Institute
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- Nilbert, Mef (author)
- Lund University,Lunds universitet,Bröstcancer-genetik,Sektion I,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Breastcancer-genetics,Section I,Department of Clinical Sciences, Lund,Faculty of Medicine
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- Nordling, Margareta, 1962 (author)
- Linköping University,Linköpings universitet,Gothenburg University,Göteborgs universitet,Institutionen för biomedicin, avdelningen för laboratoriemedicin,Department of Laboratory Medicine,Department of Laboratory Medicine, Institute of Biomedicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden; Department of Biomedical and Clinical Sciences, Division of Cell Biology, Linköping University, Linköping, Sweden,Avdelningen för cellbiologi,Medicinska fakulteten,Univ Gothenburg, Sahlgrenska Acad, Inst Biomed, Dept Lab Med, Gothenburg, Sweden.;Linköping Univ, Dept Biomed & Clin Sci, Div Cell Biol, Linköping, Sweden.
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- Rohlin, Anna (author)
- Gothenburg University,Göteborgs universitet,Institutionen för biomedicin, avdelningen för laboratoriemedicin,Department of Laboratory Medicine,Department of Laboratory Medicine, Institute of Biomedicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden; Department of Clinical Genetics and Genomics, Sahlgrenska University Hospital, Gothenburg, Sweden,Univ Gothenburg, Sahlgrenska Acad, Inst Biomed, Dept Lab Med, Gothenburg, Sweden.;Sahlgrens Univ Hosp, Dept Clin Genet & Genom, Gothenburg, Sweden.
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- Silander, Gustav (author)
- Umeå University,Umeå universitet,Onkologi,Umeå Univ, Dept Radiat Sci, Oncol, Umeå, Sweden.
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- Lagerstedt-Robinson, K. (author)
- Karolinska Institutet,Karolinska Institute
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- Gebre-Medhin, Samuel (author)
- Lund University,Lunds universitet,Avdelningen för klinisk genetik,Institutionen för laboratoriemedicin,Medicinska fakulteten,Division of Clinical Genetics,Department of Laboratory Medicine,Faculty of Medicine
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(creator_code:org_t)
- 2022-05-02
- 2022
- English.
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In: Genes Chromosomes & Cancer. - : Wiley. - 1045-2257 .- 1098-2264. ; 61:10, s. 585-591
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Abstract
Subject headings
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- Approximately 5% of patients with colorectal cancer (CRC) have a Mendelian predisposition for the disease. Identification of the disease-causing genetic variant enables carrier testing and tailored cancer prevention within affected families. To determine the panorama and genetic variation of Mendelian CRC syndromes among referrals at the cancer genetics clinics in Sweden, 850 patients clinically selected for CRC genetic investigation were included in a prospective study that tested for all major hereditary polyposis and nonpolyposis CRC conditions. Genetically defined syndromes were diagnosed in 11% of the patients. Lynch syndrome was predominant (n = 73) followed by familial adenomatous polyposis (n = 12) and MUTYH-associated polyposis (n = 8); the latter of which two patients presented with CRC before polyposis was evident. One patient with a history of adolescent-onset CRC and polyposis had biallelic disease-causing variants diagnostic for constitutional mismatch repair deficiency syndrome. Post-study review of detected variants of unknown clinical significance (n = 129) resulted in the reclassification of variants as likely benign (n = 59) or as diagnostic for Lynch syndrome (n = 2). Our results reveal the panorama of Mendelian CRC syndromes at the cancer genetics clinics in Sweden and show that unified testing for polyposis and nonpolyposis CRC conditions as well as regular reexamination of sequence data improve the diagnostic yield.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Cancer och onkologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Cancer and Oncology (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
Keyword
- colorectal cancer
- genetic testing
- hereditary
- polyposis
- syndrome
- variant classification
- susceptibility
- individuals
- penetrance
- reanalysis
- prevalence
- mutations
- Oncology
- Genetics & Heredity
- colorectal cancer
Publication and Content Type
- ref (subject category)
- art (subject category)
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To the university's database
- By the author/editor
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Svensson, Sara
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Zagoras, Theofan ...
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Aravidis, Christ ...
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Askmalm, Marie S ...
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Bjorck, E.
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Borg, Åke
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show more...
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Kuchinskaya, E.
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Nilbert, Mef
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Nordling, Margar ...
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Rohlin, Anna
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Silander, Gustav
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Lagerstedt-Robin ...
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Gebre-Medhin, Sa ...
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- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Clinical Medicin ...
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and Cancer and Oncol ...
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Basic Medicine
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and Medical Genetics
- Articles in the publication
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Genes Chromosome ...
- By the university
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University of Gothenburg
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Umeå University
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Linköping University
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Uppsala University
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Lund University
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Karolinska Institutet