Acute promyelocytic leukemia (APL) is characterized by arrest of leukocyte differentiation at the promyelocyte stage. In classic APL, the central leukemia-initiating event is the chromosome translocation t(15;17)(q22;q21) resulting in the fusion of the retinoic acid receptor-alpha (RARA) gene on 17q21.1 with the promyelocytic leukemia..ML) gene at ...
Forty five cases carrying the t(2;11)(p21;q23) have been reported in the literature, mostly in myelodysplastic syndromes (MDS) and acute myeloid leukemia (AML). Some of these cases involve rearrangements of the the MLL gene (also known as KMT2A), on 11q23, which confers a more aggressive behavior in myeloid neoplasms. Several individual case report...
Breast cancer is the most diagnosed malignancy and the second leading cause of cancer mortality in females. Previous association studies have identified variants on 2q35 associated with the risk of breast cancer. To identify functional susceptibility loci for breast cancer, we interrogated the 2q35 gene desert for chromatin architecture and functio...
GWAS have identified a breast cancer susceptibility locus on 2q35. Here we report the fine-mapping of this locus using data from 101,943 subjects from 50 case-control studies. We genotype 276 SNPs using the “iCOGS” genotyping array and impute genotypes for a further 1,284 using 1000 Genomes Project data. All but two, strongly-correlated SNPs (rs444...
High-grade serous cancer (HGSC), the most common subtype of ovarian cancer, often becomes resistant to chemotherapy, leading to poor patient outcomes. Intratumoral heterogeneity occurs in nearly all solid cancers, including ovarian cancer, contributing to the development of resistance mechanisms. In this study, we examined the spatial and temporal ...
Causative genetic variants have to date been identified for only a small proportion of familial colorectal cancer (CRC). While conditions such as Familial Adenomatous Polyposis and Lynch syndrome have well defined genetic causes, the search for variants underlying the remainder of familial CRC is plagued by genetic heterogeneity. The recent identif...
10.1371/journal.pone.0022035 / PLoS ONE / 6 / 7 / e22035
Autism spectrum disorders are severe psychiatric diseases commonly identified in the population. They are diagnosed during childhood and the etiology has been much debated due to their variations and complexity. Onset is early and characterized as communication and social interaction disorders and as repetitive and stereotyped behavior. Austistic d...
