Stratagene

Stratagene California

Garvan Institute of Medical Research

Miguel Angel Peinado

John T Welsh

Michael McClelland

Manuel Perucho

Yurij Ionov

Sergei Malkhosyan

Susan Joy Clark

Jordi Frigola Mas

The present invention provides methods for diagnosis and monitoring the efficacy of treatment of a cancer. More particularly, the methods of the invention comprise detecting an enhanced degree of chromatin modification within Chromosome 2 of the human genome from about map position 2q14.1 to about map position 2q14.3 in a sample derived from a subject. The methods include detecting an enhanced level of methylation, or detecting an enhanced level of modification of a histone positioned within the chromatin within the region of about 2q14.1 to 2q14.3 of Chromosome 2. The methods also include detecting a modulated level of expression of a gene within the region of about 2q14.1 to 2q14.3 of Chromosome 2. The gene may be selected from the group consisting of DEAD box polypeptide 18 (DDX18), translin (TSN), v-ral simian leukaemia viral oncogene homolog B (RALB), secretin recepto (SCTR), engrailed homolog 1 (EN1), macrophage receptor with collagenous structure (MARCO), protein tyrosine phosphatase non-receptor type 4 (PTPN4), insulin induced gene 2 (INSIG2), inhibin beta B (INHBB), GLI-Kruppel family member 2 (GLI2), FLJ10996, STEAP3, diazepam binding inhibitor (DBI), MGC10993, erythrocyte membrane protein band 4.1 like 5 (EPB41L5), FLJ14816, transcription factor CP2-like 1 (TFCP2L1).

Method of diagnosing cancer and reagents therefor

The detection of insertions and/or deletions in reiterated nucleotide sequences in tissues provides an identification of neoplastic changes that are associated with malignancy. The mutations are preferably detected by PCR based amplification of target sequences using selected primers, followed by standard analytic procedures. The detection of these mutations is useful as a diagnostic tool for cancer development and has direct application for cancer prognosis.

Identification of neoplasms by detection of genetic insertions and deletions

Growing community of inventors

Barcelona, Spain

Miguel Angel Peinado