Academy of Finland
Funding decision
Name Winqvist, Robert
Organisation OY
Project title
Search for novel genes in heritable predisposition to breast cancer
Decision No. 122715
Decision date 13.09.2007
Funding period 01.01.2008 - 31.12.2011
Funding 240 000
WebFOCUS Report
Project description
Breast cancer is the most common malignancy among women. Constitutional mutations in high-penetrance susceptibility genes such as BRCA1 and BRCA2 account for 5–10% of breast cancer cases, but recently more commonly occurring mutations in moderate- and low-penetrance risk genes have also been uncovered. Unfortunately, however, the mechanistic details of how dysfunctional hereditary factors act to promote malignancy development has remained largely obscure. In addition, a considerable fraction of the components involved in breast cancer predisposition are still unknown. In our studies on Finnish breast cancer families, we have identified several novel cancer susceptibility genes (e.g. PALB2, RAD50, NBS1, RAP80, Abraxas), and also characterized the functional and biological consequences of some of the observed mutations. Our investigations have contributed significant knowledge about the impact of novel susceptibility gene lesions on breast cancer risk and disease behavior.