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First whole-genome sequence of Parsi breast cancer patient completed

TGAC collaboration may reveal mechanisms behind killer disease.

14 January 2011

For centuries stories have circulated of ancient peoples blessed with long lives, free of the burden of disease. Now The Genome Analysis Centre (TGAC), an institute of BBSRC, has teamed up with a major systems biology and genomics company in India to seek the truth behind the sages' tales.

TGAC, a national resource for genomic sequencing and bioinformatics has, in collaboration with Avesthagen, one of India's leading healthcare technology groups, completed the first whole-genome sequence of a 74-year-old Parsi woman with a heritable form of breast cancer.

The Parsis are a distinct minority population in South Asia with unique traits that may include longevity along with predispositions to certain diseases, including breast cancer.

By employing whole-genome sequencing of affected individuals, all genetic variants linked to the disease can be identified, rather than focusing on genetic variations such as the BRCA1 and HER2 genes associated with increased risks which only address a fraction of breast cancer cases. Then comparing the genomes of Parsi individuals affected by breast cancer to healthy individuals, both within the community and in the general population, scientists will be able to identify genetic variations which could lead to a broader understanding of breast cancer disease mechanisms, the development of new diagnostic tests, and the discovery of new drug targets and designs.

This study is part of the Avestagegenome Project, a systems biology-based study on the Parsi population to determine the genetic basis of longevity and age-related disorders.

The whole genome sequencing is being carried out in partnership with TGAC, who are employing next-generation sequencing platforms to generate a draft sequence. Avesthagen's bioinformatics experts will analyse and interpret the DNA sequence data and work with international partners to integrate the data set with other studies to maximise impact.

Existing BC diagnostic tests and drugs, focusing on genetic variations in genes such as, address only a fraction of BC cases. A comprehensive understanding of all forms of BC and the risks posed to each individual can only be determined by identifying all heritable genetic variations that occur in affected individuals. This first sequencing of the genome of a Parsi BC patient is an important milestone in this effort. Whole genome sequencing for additional BC cases and other disease conditions is being carried out.

The samples collected, to date, enable Avesthagen to assemble cohorts for a variety of diseases. The information so developed in combination with well-characterised genetic information provides for accelerated new biomarker and drug discovery.

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