Wspólnotowy Serwis Informacyjny Badan i Rozwoju - CORDIS


IHCAP Streszczenie raportu

Project ID: 310018
Źródło dofinansowania: FP7-IDEAS-ERC
Kraj: United Kingdom

Mid-Term Report Summary - IHCAP (Investigating Hereditary Cancer Predisposition – a combined genomics approach)

There are three key aims of the project:
1) to investigate the inherited genetic architecture of unilateral breast cancer versus bilateral breast cancer. As part of an international collaboration we have performed exam sequencing in over 245 matched pairs of DNA from women with unilateral breast cancer and women with bilateral breast cancer. We have identified nearly half a million genetic variants which are currently being further analysed.
2) to investigate new genetic causes of hereditary breast-cancer. We have undertaken exome sequencing of over 60 DNA samples from women with a strong family history of breast cancer that is unexplained. Analysis is currently ongoing. We have also investigated one particular gene in great detail. This gene is called PALB2 and we have published a seminal paper looking at breast cancer risk in 154 families who have mutations in this gene.
3) to investigate hereditary causes of cancer in families that are currently unexplained. So far we have collected DNA samples from over 120 individuals from families with strong or unusual histories of cancer. Families originate from Europe and other parts of the world. Exome sequencing has commenced in this group and analysis is currently underway.

Reported by

United Kingdom
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