Breast Cancer diagnostic markers licensed by Perlegen in agreement with University of Cambrige & CRT

The study identified novel breast cancer susceptibility markers that are present in approximately 20% of UK breast cancer cases.  By comparison, previously identified genetic variants, for example in the genes BRCA1 and BRCA2, are much rarer, occurring in less than 5% of breast cancer cases. 

Although common, these risk alleles (forms of DNA sequence at a specific location) confer somewhat less overall risk than other described markers, doubling breast cancer risk in cases which have two copies of the variants versus those with none. 

Pursuant to the terms of the license agreement, Perlegen will commercialize a diagnostic test, either directly or through a sub-license agreement with a third party.  Cambridge University and CRT will share in any financial returns.  In addition, Cambridge University may provide non-commercial licenses to academic researchers. 

The results of the collaboration were published in June 2007 in the scientific journal Nature:  “Genome-wide association study identifies novel breast cancer susceptibility loci” by Douglas F. Easton et al.  More than one million women are diagnosed annually with breast cancer.  The near term diagnostic, and possibly longer term therapeutic, application of these findings could benefit breast cancer patients through improvements in prevention, earlier detection and ultimately treatment of breast cancer.

The study that yielded these markers, the most comprehensive study of breast cancer genetics ever conducted, was based on reading the DNA of over 50,000 women.  The samples used in the study were coordinated by the researchers at Cambridge University through a variety of clinical collaborators around the globe.  Perlegen genotyped the anonymised samples to determine the genetic variation in each sample.  Funding was provided by Cancer Research UK, the parent organization of CRT.

“We are pleased that the collaborative effort between Cambridge University, Perlegen, all those who provided DNA samples to the study, and Cancer Research UK which provided funding support, has led to increased knowledge of the genetic basis of breast cancer,” said Prof. Bruce Ponder, Director of the Cancer Research UK Cambridge Research Institute, Head of the Department of Oncology, and Co-Director of Strangeways Research Laboratory, University of Cambridge.

“The next step for this research is to translate our greater understanding of the genetic basis of the disease into new technologies that will directly benefit breast cancer patients,” commented Dr. Keith Blundy, Chief Executive Officer of CRT.

“We look forward to further developments in this field, which together with today’s important findings, will hold the promise of improving the health care for the many women with these novel susceptibility genetic markers,” said Dr. Bryan Walser, Chief Executive Officer of Perlegen Sciences.

Dr. Iain Thomas, Head of Life Sciences at Cambridge Enterprise Limited added:  “One in nine women in the UK will be diagnosed with breast cancer. We hope the results of this study will make an important difference for many of these women.  We’re delighted to have entered into this commercial license with Perlegen Sciences.

About the University of Cambridge

The University of Cambridge’s reputation for outstanding academic achievement is known worldwide and reflects the intellectual achievement of its students, as well as the world-class original research carried out by the staff of the University and the Colleges.

Cambridge Enterprise Limited is the commercialisation office of the University.  Services provided include intellectual property management, bespoke marketing, technology licences and consultancy contracts negotiation.

As Cambridge approaches its eight hundredth anniversary in 2009, it is looking to the future. It continues to change in response to the challenges it faces. The modern University is an international centre of teaching and research in a vast range of subjects: about half of the students study science or technology. Members of the University have won over eighty Nobel Prizes.

The University’s Research Services Division provides a 'one stop shop' supporting activities involved in research funding.  Staff of this division negotiates, on behalf of the University, all contracts for research collaborations.

About Perlegen Sciences

Perlegen’s mission is to discover and commercialize genetic variations that can make a difference to patients and physicians.  The company’s expertise is in understanding human genetic variation within and across diverse patient populations and in conducting studies aimed at identifying those variations that are predictive of drug response. Perlegen also applies its expertise to discovering genetic variations associated with disease, to enable the discovery of novel targets leading to new therapeutics as well as clinically useful diagnostics or biomarkers.