Commonwealth Scientific and Industrial Research Organisation

Garvan Institute of Medical Research

Susan Joy Clark

Douglas Spencer Millar

Peter Laurence Molloy

Miguel Angel Peinado

Clare Stirzaker

Jordi Frigola Mas

Elena Zotenko

Glenn Francis

Douglas S Millar

The present disclosure provides methods and reagents for the diagnosis, prognosis or the monitoring of breast cancer, including various subtypes of breast cancer including, for example, estrogen receptor (ER) negative breast cancer, ER positive breast cancer, triple negative breast cancer (TNBC) and other subtypes of breast cancer.

Methods for diagnosis, prognosis and monitoring of breast cancer and reagents therefor

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

A diagnostic or prognostic assay is disclosed for a disease of condition characterized by abnormal methylation of cytosine at side or sites within the glutathione-S-transferase (GST) Pi gene and/or its regulatory flanking sequences (e.g., prostate cancer and liver cancer). The assay comprises: (i) isolating DNA from said subject, and (ii) determining (e.g., by selective PCR amplification) the presence of abnormal methylation of cytosine at a site or sites within the GST-Pi gene and/or its regulatory flanking sequences.

Assay for methylation in the GST-Pi gene

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Chatswood, Australia

Susan Joy Clark