Genetic anticipation in Swedish Lynch syndrome families

PLoS Genetics
Jenny von SaloméKristina Lagerstedt-Robinson

Abstract

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 nationwide 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 fam...Continue Reading

References

Jan 1, 1994·Biomedicine & Pharmacotherapy = Biomédecine & Pharmacothérapie·E Plassart, B Fontaine
Jun 1, 1996·Diseases of the Colon and Rectum·M A Rodríguez-BigasN J Petrelli
Dec 1, 1996·Melanoma Research·A M GoldsteinM A Tucker
Jul 17, 1997·International Journal of Cancer. Journal International Du Cancer·D W VoskuilP van't Veer
Jan 1, 1997·Genetic Epidemiology·Y Y TsaiF M Giardiello
May 23, 2001·Journal of Medical Genetics·A WagnerR Fodde
Oct 16, 2001·Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology·H F VasenJ T Wijnen
Aug 16, 2002·Journal of Human Genetics·Marie TrkovaZdenek Sedlacek
Oct 2, 2003·International Journal of Cancer. Journal International Du Cancer·Paolo PeterlongoNathan A Ellis
Feb 19, 2004·Journal of the National Cancer Institute·Asad UmarSudhir Srivastava
Mar 18, 2005·Human Genetics·Alexander A WestphalenKarl Heinimann
May 17, 2005·Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology·Sarah E DaughertyLynn R Goldin
Aug 2, 2005·The Lancet Oncology·Stefan KrügerUNKNOWN German Hereditary Non-Polyposis Colorectal Cancer Consortium
Aug 9, 2005·Gastroenterology·Heather HampelAlbert de la Chapelle
Sep 2, 2005·Familial Cancer·Patrice Watson, Bronson Riley
Aug 15, 2006·The Journal of Biological Chemistry·Paul Modrich
Aug 16, 2006·Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology·Timm GoeckeUNKNOWN German HNPCC Consortium
Aug 29, 2006·World Journal of Gastroenterology : WJG·Jeremy R Jass
Dec 25, 2007·Cell Research·Guo-Min Li
Jul 8, 2008·Gastroenterology·Leigha SenterAlbert de la Chapelle
Jul 16, 2008·International Journal of Cancer. Journal International Du Cancer·Stuart G ReevesRodney J Scott
Aug 19, 2008·Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology·Fay KastrinosSapna Syngal
Sep 5, 2008·Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology·Mala PandeMarsha L Frazier
Dec 17, 2008·Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology·Mef NilbertKlaus Larsen
Mar 18, 2009·International Journal of Cancer. Journal International Du Cancer·Zumin ShiRodney J Scott
Jun 6, 2009·Statistical Applications in Genetics and Molecular Biology·Klaus LarsenMef Nilbert
Jul 22, 2009·Pediatric Blood & Cancer·Anibal R Martinez-BorgesSharon M Castellino
Dec 24, 2009·Journal of the National Cancer Institute·Laura BagliettoMark A Jenkins
Mar 10, 2010·Journal of Molecular Evolution·Daniel S FalsterJarle Breivik
Apr 28, 2010·Gastroenterology·Kory W JaspersonRandall W Burt
Sep 30, 2010·Genetic Epidemiology·Philip S BoonstraBhramar Mukherjee
May 4, 2011·Human Mutation·Aaron Mendez-Bermudez, Nicola J Royle
Aug 4, 2011·Seminars in Oncology·Manish Gala, Daniel C Chung
May 2, 2012·Current Genomics·Cristina BozzaoAlessandro Stella
Sep 6, 2012·European Journal of Human Genetics : EJHG·Fernando BellidoLaura Valle

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Citations

May 13, 2020·The Journal of Clinical Endocrinology and Metabolism·Medard F M van den BroekGerlof D Valk
Mar 3, 2019·Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology·Sanne W Ten BroekeMaartje Nielsen
Apr 28, 2021·Scientific Reports·Abram Bunya KamizaChih-Ching Yeh

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