Albert de la Chapelle

TL;DR: A DNA probe from a human Y chromosome-derived cosmid detects a single-copy genomic DNA fragment which can appear in different allelic forms shared by both sex chromosomes, and variations at this DNA locus show an autosomal pattern of inheritance, undergo recombination with sexual phenotype and can be described as ‘pseudoautosomal’.

TL;DR: By screening for MMR gene mutations in unselected colorectal or endometrial cancer patients, it was found that the prevalence of LS is 1–3%, and on extrapolation to the entire population, the incidence is between 1:2000 and 1:660.

TL;DR: Although both ways of classifying karyotype correlated with survival, even when other major risk factors in ANLL were considered, only the Chicago Classification was an independent prognostic factor among the intensively treated patients.

TL;DR: It is proposed that RIZ is a target of the observed 1p alterations, with impairment of the PR domain-mediated function through either frameshift mutation or genomic deletion.

TL;DR: The data suggest that BAALC is a gene implicated in both neuroectodermal and hematopoietic cell functions, suggesting a key role in the cytoskeleton network of leukemia.