Finlands Akademi  
Sökande / Kontakt person Winqvist, Robert
Organisation Uleåborgs universitet
Projektets titel Hereditary breast cancer predisposition: factors, cellular mechanisms and disease modeling
Beslutnr 318337
Beslutsdatum 03.05.2018
Finansierings period 01.09.2018 - 31.08.2022
Finansiering 450 000
Beskrivning av projektet
Hereditary factors are important for breast cancer risk. Our research has successfully tracked many novel genes besides BRCA1 and BRCA2 with involvement in the cellular defense to DNA damage and influencing on hereditary breast cancer risk: e.g. PALB2, ABRAXAS, RAP80, RAD50, NBS1, MCPH1. We have shown that for Finnish female PALB2 mutation carriers the risk of developing breast cancer is about 40%, and a similar risk number was also obtained in a large international PALB2 meta-study published in 2014, further confirming a similar breast cancer risk for both BRCA2 and PALB2 germline mutation carriers. Based on these findings, it is recommendable to include PALB2 along with BRCA1 and BRCA2 in the standard genetic counceling mutation testing protocol for individuals at increased hereditary risk for breast cancer. The aim of our research is to gain better understanding of factors and molecular and biological mechanisms involved in hereditary breast cancer predisposition.