title: Loss of heterozygosity in endometrial carcinoma.
abstract: Inactivation of a tumor suppressor gene typically occurs in two steps, thus fulfilling Knudson hypothesis. One "hit" is frequently a point mutation or a small deletion. The other alteration is usually a large genomic loss of part of a gene, or even part of a chromosome, or the whole chromosome. However, it is not clear which of these two events occurs first. Loss of heterozygosity (LOH) analysis allows the identification of one of the 2 hits. Although microsatellite polymerase chain reaction is the technique most frequently used to assess LOH, other different approaches can also be used. The LOH can also be assessed by restriction fragment length polymorphism analysis, single strand conformation polymorphism analysis, oligonucleotide microarrays capable to simultaneously determine the genotype of thousands of single-nucleotide polymorphism (single-nucleotide polymorphism arrays), comparative genomic hybridization, multiplex amplification and probe hybridization, and multiplex ligation-dependent probe amplification. In this article, the authors review the results obtained with molecular analysis of LOH in the understanding of development and progression of endometrial carcinoma. Particular attention is given to: (1) the presence of widespread LOH in nonendometrioid carcinoma, probably reflecting the existence of chromosomal instability; and (2) specific LOH patterns associated with some clinicopathologic features.
authors.affiliation: Department of Pathology and Molecular Genetics, Hospital Universitari Arnau de Vilanova, University of Lleida, IRBLLEIDA, Lleida, Spain.
authors.forename: Ana
authors.initials: A
authors.lastname: Velasco
authors.forename: Judit
authors.initials: J
authors.lastname: Pallares
authors.forename: Maria
authors.initials: M
authors.lastname: Santacana
authors.forename: Andre
authors.initials: A
authors.lastname: Yeramian
authors.forename: Xavier
authors.initials: X
authors.lastname: Dolcet
authors.forename: Nuria
authors.initials: N
authors.lastname: Eritja
authors.forename: Soraya
authors.initials: S
authors.lastname: Puente
authors.forename: Anabel
authors.initials: A
authors.lastname: Sorolla
authors.forename: Nuria
authors.initials: N
authors.lastname: Llecha
authors.forename: Xavier
authors.initials: X
authors.lastname: Matias-Guiu
mesh_terms: D000230:Adenocarcinoma / Q000235:genetics* / Q000473:pathology; D016889:Endometrial Neoplasms / Q000235:genetics* / Q000473:pathology; D005260:Female; D006801:Humans; D019656:Loss of Heterozygosity / Q000235:genetics*