The reference human genome sequence set the stage for studies of genetic variation and
its association with human disease, but epigenomic studies lack a similar reference. To …

Primary triple-negative breast cancers (TNBCs), a tumour type defined by lack of oestrogen
receptor, progesterone receptor and ERBB2 gene amplification, represent approximately 16…

Background Ovarian clear-cell and endometrioid carcinomas may arise from endometriosis,
but the molecular events involved in this transformation have not been described. Methods …

Gene fusions created by somatic genomic rearrangements are known to play an important
role in the onset and development of some cancers, such as lymphomas and sarcomas. RNA-…

Background Germline truncating mutations in DICER1, an endoribonuclease in the RNase
III family that is essential for processing microRNAs, have been observed in families with the …

The International Human Epigenome Consortium (IHEC) coordinates the generation of a
catalog of high-resolution reference epigenomes of major primary human cell types. The …

Our group recently described recurrent somatic mutations of the miRNA processing gene
DICER1 in non‐epithelial ovarian cancer. Mutations appeared to be clustered around each of …

The identification of animal species used in industrial meat products is very important in
respect to economic considerations because European Union, which has implemented a set of …

PPP2R1A mutations have recently been described in 3/42 (7%) of clear cell carcinomas of
the ovary. PPP2R1A encodes the α‐isoform of the scaffolding subunit of the serine/threonine …

Malignant rhabdoid tumors (MRTs) are rare lethal tumors of childhood that most commonly
occur in the kidney and brain. MRTs are driven by SMARCB1 loss, but the molecular …