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Major contribution from recurrent alterations and MSH6 mutations in the Danish Lynch syndrome population.

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  1. Risk of multiple colorectal cancer development depends on age and subgroup in individuals with hereditary predisposition

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  2. Unsolicited information letters to increase awareness of Lynch syndrome and familial colorectal cancer: reactions and attitudes

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  4. BRCA1/BRCA2 founder mutations and cancer risks: impact in the western Danish population

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  5. No evidence of increased breast cancer risk for proven noncarriers from BRCA1 and BRCA2 families

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  1. Rational targeting of population groups and residential areas for colorectal cancer screening

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  2. Publishing your trial protocols with Acta Oncologica; your contribution to scientific transparency

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  3. Function, information, and contributions: An evaluation of national multidisciplinary team meetings for rare cancers

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  • Mef Nilbert
  • Friedrik Wikman
  • Thomas Hansen
  • Henrik Krarup
  • Torben Orntoft
  • Finn Nielsen
  • Lone Sunde
  • Anne-Marie Gerdes
  • Dorthe Cruger
  • Susanne Timshel
  • Marie-Louise Bisgaard
  • Inge Bernstein
  • Henrik Okkels
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An increasing number of mismatch-repair (MMR) gene mutations have been identified in hereditary nonpolyposis colorectal cancer (HNPCC) or Lynch syndrome. This study presents the population-based Danish MMR gene mutation profile, which contains 138 different MMR gene alterations. Among these, 88 mutations in 164 families are considered pathogenic and an additional 50 variants from 76 families are considered to represent variants of unknown pathogenicity. The different MMR genes contribute to 40% (MSH2), 29% (MLH1), and 22% (MSH6) of the mutations and the Danish population thus shows a considerably higher frequency of MSH6 mutations than previously described. Although 69/88 (78%) pathogenic mutations were present in a single family, previously recognized recurrent/founder mutations were causative in 75/137 (55%) MLH1/MSH2 mutant families. In addition, the Danish MLH1 founder mutation c.1667+2_1667_+8TAAATCAdelinsATTT was identified in 14/58 (24%) MLH1 mutant families. The Danish Lynch syndrome population thus demonstrates that MSH6 mutations and recurrent/founder mutations have a larger contribution than previously recognized, which implies that the MSH6 gene should be included in routine diagnostics and suggests that directed analysis of recurrent/founder mutations may be feasible e.g. in families were diagnostic material is restricted to archival tissue.
Original languageEnglish
JournalFamilial Cancer
Volume8
Issue number1
Pages (from-to)75-83
Number of pages8
ISSN1389-9600
DOIs
Publication statusPublished - 2009

ID: 32551268