Double frameshift mutations in APC and MSH2 in the same individual

Article Article scientifique Rapport de cas Double frameshift mutations in APC and MSH2 in the same individual eng 2005-09 author Soravia Claudio 126700 author De Lozier Celia author Dobbie Zuzana author Berthod Claudine author Arrigoni Eviano 30965 author Brundler Marie-Anne 526487 author Blouin Jean-Louis 513663 author Foulkes William D author Hutter Pierre 22939 466-470 10.1007/s00384-005-0772-z 15834612 0179-1958 https://link.springer.com/article/10.1007/s00384-005-0764-z Heterozygous germline DNA mismatch repair gene mutations are typically associated with HNPCC. Here we report the case of a proband whose father was known for familial adenomatous polyposis. The number of polyps (less than ten) was not typical of polyposis; therefore, the diagnosis of HNPCC was entertained. Microsatellite instability analyses were performed on peripheral blood and biopsy of a right-sided dysplastic adenoma. The tumour tissue showed high-grade instability, and subsequently, immunohistochemistry showed that neither MSH2 nor MSH6 proteins were expressed in tumour cells. Prophylactic colectomy was performed, and an adenocarcinoma developing within the adenoma was diagnosed (pT1N0). Genomic DNA analysis revealed a novel mutation in MSH2 as a frameshift mutation in exon 7 (c.1,191_1,192dupG). Both parents of the proband were analyzed for MSH2 and APC mutations, and in the father, a truncating mutation in exon 15 of APC was identified as del3471-3473GAGA. This mutation was found to be present in the proband. His mother was found to bear the MSH2 exon 7 mutation. At follow-up, the proband was diagnosed with fundic, antral and duodenal adenomas (one fundic adenoma showed low-grade dysplasia). Several tubular rectal adenomas with low-grade dysplasia were excised. The patient later developed an intra-abdominal desmoid tumour. Adenomatous Polyposis Coli / diagnosis Adenomatous Polyposis Coli / genetics Adenomatous Polyposis Coli / surgery Adult Colectomy Colorectal Neoplasms, Hereditary Nonpolyposis / diagnosis Colorectal Neoplasms, Hereditary Nonpolyposis / genetics Colorectal Neoplasms, Hereditary Nonpolyposis / surgery Diagnosis, Differential Frameshift Mutation Genes, APC Genetic Predisposition to Disease Germ-Line Mutation Humans Male MutS Homolog 2 Protein / genetics Pedigree Dewey 617 Dewey 576.5 135 Département de médecine génétique et développement 21D 57 Département de chirurgie 222 false 79 Chirurgie viscérale 104 1329 Chirurgie viscérale (HUG) International journal of colorectal disease 20 5 dd3b8369-99a0-45cb-930f-1abd5ddc1b0a Article (Published version) Restricted art%253A10.1007%252Fs00384-005-0764-z.pdf 94664 application/pdf 9620c28c-2473-4e8a-8b99-d0a3a84173cf Erratum Restricted s00384-006-0233-3.pdf 45897 application/pdf 4882135dc28efe7c9e6fcda024da1a83d0b5f950387dd60d56f970026ea27af7 Owing to an unfortunate oversight, the article Double frameshift mutations in APC and MSH2 in the same individual by Soravia et al. has been published twice: Volume 20, Issue 5, on pages 466–470 Volume 21, Issue 1, on pages 79–83 The article with DOI 10.1007/s00384-005-0772-z has been eliminated. Readers will be automatically redirected to the article with DOI 10.1007/s00384-005-0764-z. 10.1007/s00384-006-0233-3 restrictedAccess Faculté de médecine / Section de médecine fondamentale / Département de médecine génétique et développement Faculté de médecine / Section de médecine clinique / Département de chirurgie

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Double frameshift mutations in APC and MSH2 in the same individual	International journal of colorectal disease			2005	842	1

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Arrigoni, Eviano