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Genetic anticipatio...
Genetic anticipation in Swedish Lynch syndrome families
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- von Salomé, Jenny (författare)
- Karolinska Institutet,Karolinska Institute,Karolinska Institute, Sweden; Karolinska University Hospital, Sweden,Karolinska Inst, Dept Mol Med & Surg, Stockholm, Sweden.;Karolinska Univ Hosp, Dept Clin Genet, Stockholm, Sweden.
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- Boonstra, Philip S. (författare)
- University of Michigan, MI 48109 USA,Univ Michigan, Dept Biostat, Ann Arbor, MI 48109 USA.
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- Karimi, Masoud (författare)
- Karolinska Institutet,Karolinska Univ Hosp, Radiumhemmet, Dept Oncol, Stockholm, Sweden.,Karolinska University Hospital, Sweden
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- Silander, Gustav (författare)
- Umeå universitet,Umeå University,Institutionen för strålningsvetenskaper,Umea Univ, Dept Radiat Sci, Umea, Sweden.,Umeå University, Sweden
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- Stenmark-Askmalm, Marie (författare)
- Linköpings universitet,Linköping University,Lund University,Lunds universitet,Avdelningen för klinisk genetik,Institutionen för laboratoriemedicin,Medicinska fakulteten,Division of Clinical Genetics,Department of Laboratory Medicine,Faculty of Medicine,Linkoping Univ, Dept Oncol, Linkoping, Sweden.;Off Med Serv, Div Lab Med, Dept Clin Genet, Lund, Sweden.,Avdelningen för cellbiologi,Region Östergötland, Klinisk genetik,Department of Clinical Genetics, Office for Medical Services, Division of Laboratory Medicine, Lund, Sweden
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- Gebre-Medhin, Samuel (författare)
- Lund University,Lunds universitet,Avdelningen för klinisk genetik,Institutionen för laboratoriemedicin,Medicinska fakulteten,Division of Clinical Genetics,Department of Laboratory Medicine,Faculty of Medicine,Off Med Serv, Div Lab Med, Dept Clin Genet, Lund, Sweden.;Lund Univ, Div Clin Genet, Dept Lab Med, Lund, Sweden.,Off Medical Serv, Sweden; Lund University, Sweden
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- Aravidis, Christos (författare)
- Uppsala universitet,Uppsala University,Medicinsk genetik och genomik,Uppsala University, Sweden
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- Nilbert, Mef (författare)
- 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,Lund University, Sweden; University of Copenhagen, Denmark,Lund Univ, Div Oncol & Pathol, Dept Clin Sci, Lund, Sweden.;Univ Copenhagen, Hvidovre Hosp, Clin Res Ctr, Hvidovre, Denmark.
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- Lindblom, Annika (författare)
- Karolinska Institutet,Karolinska Institute,Karolinska Institute, Sweden; Karolinska University Hospital, Sweden,Karolinska Inst, Dept Mol Med & Surg, Stockholm, Sweden.;Karolinska Univ Hosp, Dept Clin Genet, Stockholm, Sweden.
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- Lagerstedt-Robinson, Kristina (författare)
- Karolinska Institutet,Karolinska Institute,Karolinska Institute, Sweden; Karolinska University Hospital, Sweden,Karolinska Inst, Dept Mol Med & Surg, Stockholm, Sweden.;Karolinska Univ Hosp, Dept Clin Genet, Stockholm, Sweden.
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(creator_code:org_t)
- 2017-10-31
- 2017
- Engelska.
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Ingår i: PLoS Genetics. - : Public Library of Science (PLoS). - 1553-7390 .- 1553-7404. ; 13:10
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https://lup.lub.lu.s...
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https://doi.org/10.1...
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Abstract
Ämnesord
Stäng
- Among hereditary colorectal cancer predisposing syndromes, Lynch syndrome (LS) caused by mutations in DNA mismatch repair genes MLH1, MSH2, MSH6 or PMS2 is the most common. Patients with LS have an increased risk of early onset colon and endometrial cancer, but also other tumors that generally have an earlier onset compared to the general population. However, age at first primary cancer varies within families and genetic anticipation, i.e. decreasing age at onset in successive generations, has been suggested in LS. Anticipation is a well-known phenomenon in e.g neurodegenerative diseases and several reports have studied anticipation in heritable cancer. The purpose of this study is to determine whether anticipation can be shown in a large cohort of Swedish LS families referred to the regional departments of clinical genetics in Lund, Stockholm, Linköping, Uppsala and Umeå between the years 1990–2013. We analyzed a homogenous group of mutation carriers, utilizing information from both affected and non-affected family members. In total, 239 families with a mismatch repair gene mutation (96 MLH1 families, 90 MSH2 families including one family with an EPCAM–MSH2 deletion, 39 MSH6 families, 12 PMS2 families, and 2 MLH1+PMS2 families) comprising 1028 at-risk carriers were identified among the Swedish LS families, of which 1003 mutation carriers had available follow-up information and could be included in the study. Using a normal random effects model (NREM) we estimate a 2.1 year decrease in age of diagnosis per generation. An alternative analysis using a mixed-effects Cox proportional hazards model (COX-R) estimates a hazard ratio of exp(0.171), or about 1.19, for age of diagnosis between consecutive generations. LS-associated gene-specific anticipation effects are evident for MSH2 (2.6 years/generation for NREM and hazard ratio of 1.33 for COX-R) and PMS2 (7.3 years/generation and hazard ratio of 1.86). The estimated anticipation effects for MLH1 and MSH6 are smaller.
Ämnesord
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Cancer och onkologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Cancer and Oncology (hsv//eng)
Publikations- och innehållstyp
- art (ämneskategori)
- ref (ämneskategori)
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