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A de novo germline MLH1 mutation in a Lynch syndrome patient with discordant immunohistochemical and molecular biology test results

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World Journal of Gastroenterology 2012年第39期18卷 5635-5639页

作者： Fabrice Airaud Sébastien Küry Isabelle Valo Ingrid Maury Dominique Bonneau olivier ingster Stéphane Bezieau CHU Nantes Service de Génétique Médicale9 quai Moncousu44093 Nantes Cedex 1France Institut de Cancérologie de l'Ouest Service d'Anatomie et Cytologie Pathologique2 rue Moll49933 Angers Cedex 9France CHU Angers Service de Génétique Médicale4 rue Larrey49933 AngersFrance

We describe a patient with a Homo sapiens mutL homolog 1 (MLH1)-associated Lynch syndrome with previous diagnoses of two distinct primary cancers:a sigmoid colon cancer at the age of 39 years, and a right colon cancer at the age of 50 years. The mutation identified in his blood and buccal cells, c.1771delG, ***591Ilefs*25, appears to be a de novo event, as it was not transmitted by either of his parents. This type of de novo event is rare in MLH1 as only three cases have been reported in the literature so far. Further-more, the discordant results observed between repli-cation error phenotyping and immunohistochemistry highlight the importance of the systematic use of both pre-screening tests in the molecular diagnosis of Lynch syndrome.

关键词：免疫组织化学综合征生物学试验分子和谐突变患者生殖

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Evaluation of the colorectal cancer risk conferred by rare UNC5C alleles

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World Journal of Gastroenterology 2014年第1期20卷 204-213页

作者： Sébastien Küry Céline Garrec Fabrice Airaud Flora Breheret Virginie Guibert Cécile Frenard Shuo Jiao Dominique Bonneau Pascaline Berthet Céline Bossard olivier ingster Estelle Cauchin Stéphane Bezieau CHU Nantes Service de Génétique Médicale44093 Nantes CEDEX 1France Public Health Sciences Division Fred Hutchinson Cancer Research CenterSeattleWA 98109United States CHU Angers Service de Génétique Médicale4 rue Larrey49933 AngersFrance Centre de Lutte contre le Cancer Fran?ois Baclesse 3 avenue du Général Harris14076 Caen Cedex 5France Université de Nantes Faculté de Médecine de NantesEA 4273 NantesFrance CHU Nantes Institut des Maladies de l’Appareil Digestif et Service d’Hépato-Gastroentérologie44093 Nantes Cedex 1France

AIM:To evaluate the risk associated with variants of the UNC5C gene recently suspected to predispose to familial colorectal cancer(CRC).METHODS:We screened patients with familial CRC forms as well as patients with sporadic *** a first time,we analyzed exon 11 of the UNC5C gene in 120unrelated patients with suspected hereditary CRC,58patients with suspected Lynch-associated cancer or polyposis,and 132 index cases of Lynch syndrome families with a characterized mutation in a DNA mismatch repair(MMR).Next,1023 patients with sporadic CRC and1121 healthy individuals were screened for the variants identified in patients with familial ***:Of 120 patients with familial CRC of unknown etiology,one carried the previously reported mis-sense mutation ***603Cys(R603C)and another exhibited the unreported variant of unknown significance ***617Ile(T617I).The ***628Lys(A628K)mutation previously described as the main UNC5C risk variant for familial CRC was not detected in any cases of familial CRC of unknown etiology,but was present in a patient with familial gastric cancer and in two Lynch syndrome patients in co-occurrence with MMR mutations.A statistically non-significant increase in cancer risk was identified in familial CRC and/or other Lynchassociated cancers(1/178 patients vs 2/1121 healthy controls,OR=3.2,95%CI:0.29-35.05,P=0.348)and in sporadic CRCs(4/1023 patients vs 2/1121 healthy controls,OR=2.2,95%CI:0.40-12.02,P=0.364).CONCLUSION:We confirm that UNC5C mutations are very rare in familial and sporadic CRCs,but further investigations are needed to justify routine UNC5C testing for diagnostic purposes.

关键词： Colorectal cancer UNC5C Genetic predisposition Fam

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