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Pathogenic Variant Spectrum in Breast Cancer Risk Genes in Finnish Patients.

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Recurrent pathogenic variants have been detected in several breast and ovarian cancer (BC/OC) risk genes in the Finnish population. We conducted a gene-panel sequencing and copy number variant (CNV) analysis to define a more comprehensive spectrum of pathogenic variants in BRCA1, BRCA2, PALB2, CHEK2, ATM, BARD1, RAD51C, RAD51D, BRIP1, and FANCM genes in Finnish BC patients. The combined frequency of pathogenic variants in the BRCA1/2 genes was 1.8% in 1356 unselected patients, whereas variants in the other genes were detected altogether in 8.3% of 1356 unselected patients and in 12.9% of 699 familial patients. CNVs were detected in 0.3% of both 1137 unselected and 612 familial patients. A few variants covered most of the pathogenic burden in the studied genes. Of the BRCA1/2 carriers, 70.8% had 1 of 10 recurrent variants. In the other genes combined, 92.1% of the carrier patients had at least 1 of 11 recurrent variants. In particular, PALB2 c.1592delT and CHEK2 c.1100delC accounted for 88.9% and 82.9%, respectively, of the pathogenic variation in each gene. Our results highlight the importance of founder variants in the BC risk genes in the Finnish population and could be used in the designing of population screening for the risk variants.


Peer reviewed: True

Funder: Helsinki University Hospital Research Fund, the Sigrid Jusélius Foundation, and the Cancer Foundation Finland

Funder: Confluence project which is funded with intramural funds from the National Cancer Institute Intramural Research Programme, National Institutes of Health

Funder: University of Helsinki


Article, breast cancer, pathogenic variant, gene-panel sequencing, copy number variant, BRCA1, BRCA2, moderate-risk gene

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Cancers (Basel)

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CanRisk Cancer Research UK programme (PPRPGM-Nov20/100002, C1287/A10118, C1287/A10710, C12292/A11174, C1281/A12014, C5047/A8384, C5047/A15007, C5047/A10692, C8197/A16565)
European Union Horizon 2020 Research and Innovation Program BRIDGES (634935)
Wellcome Trust (v203477/Z/16/Z)
European Community’s Seventh Framework Programme (223175 (HEALTH-F2-2009-223175))