title: Somatic mosaicism in a patient with Lynch syndrome.
abstract: Genetic mosaicism is the presence of genetically different cell populations within an individual and can be associated with a milder disease phenotype. We describe a somatic mosaicism in a Lynch syndrome patient with a MLH1 gene mutation (c.1050delA). Since she was the sister of a heterozygous proposita, the mosaicism appeared to be caused by reversion of an inherited mutation and not a de novo mutation. In order to better understand her cancer risk, we tested different tissues to quantify the amount of mutated allele in several districts. The mosaicism was analyzed using DNA sequencing, primer extension, and dHPLC. The MLH1 mutation was present in somatic cells representative of the three embryonic layers and its percentage was > or =80% in both blood and tissues. Since this patient had a relevant quota of mutated cells, a significantly milder phenotype is not expected.
authors.affiliation: Oncologia Sperimentale 1, Centro di Riferimento Oncologico, IRCCS, Aviano (PN), Italy.
authors.forename: Chiara
authors.initials: C
authors.lastname: Pastrello
authors.forename: Mara
authors.initials: M
authors.lastname: Fornasarig
authors.forename: Elisa
authors.initials: E
authors.lastname: Pin
authors.forename: Eleonora
authors.initials: E
authors.lastname: Berto
authors.forename: Barbara
authors.initials: B
authors.lastname: Pivetta
authors.forename: Alessandra
authors.initials: A
authors.lastname: Viel
mesh_terms: D048868:Adaptor Proteins, Signal Transducing / Q000235:genetics*; D003123:Colorectal Neoplasms, Hereditary Nonpolyposis / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D009030:Mosaicism; D000070957:MutL Protein Homolog 1; D009154:Mutation; D009687:Nuclear Proteins / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D011379:Prognosis
chemical_list: D048868:Adaptor Proteins, Signal Transducing; C501486:MLH1 protein, human; D009687:Nuclear Proteins; D000070957:MutL Protein Homolog 1