Journal article

Investigation of monogenic causes of familial breast cancer: data from the BEACCON case-control study

Na Li, Belle WX Lim, Ella R Thompson, Simone McInerny, Magnus Zethoven, Dane Cheasley, Simone M Rowley, Michelle W Wong-Brown, Lisa Devereux, Kylie L Gorringe, Erica K Sloan, Alison Trainer, Rodney J Scott, Paul A James, Ian G Campbell



Breast cancer (BC) has a significant heritable component but the genetic contribution remains unresolved in the majority of high-risk BC families. This study aims to investigate the monogenic causes underlying the familial aggregation of BC beyond BRCA1 and BRCA2, including the identification of new predisposing genes. A total of 11,511 non-BRCA familial BC cases and population-matched cancer-free female controls in the BEACCON study were investigated in two sequencing phases: 1303 candidate genes in up to 3892 cases and controls, followed by validation of 145 shortlisted genes in an additional 7619 subjects. The coding regions and exon-intron boundaries of all candidate genes and 14 previou..

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Awarded by National Breast Cancer Foundation

Awarded by Cancer Australia/National Breast Cancer Foundation

Awarded by National Health and Medical Research Council of Australia

Awarded by NHMRC

Funding Acknowledgements

We also thank Norah Grewal, the ViP study site principal investigators Geoffrey Lindeman, Marion Harris, Tom John, Ingrid Winship and Yoland Antill, and the staff at the Peter MacCallum Cancer Centre, Royal Melbourne Hospital, Monash Health, Cabrini Health and Barwon Health Familial Cancer Centres and the Austin and Tasmanian Clinical Genetics Services, who enrolled participants and provided clinical data. We thank the following staff from Peter MacCallum Cancer Centre; Kaushalya Amarasinghe, Niko Thio and Richard Lupat from Bioinformatics core facility for helping with the bioinformatic analysis. This work was supported by the National Breast Cancer Foundation (IF-15-004, I.G.C. and P.A.J.), Cancer Australia/National Breast Cancer Foundation (PdCCRS_1107870, I.G.C. and P.A.J.), the Victorian Cancer Agency (Tumor Stream Grant, P.A.J.) and the National Health and Medical Research Council of Australia (GNT1023698, P.A.J.; GNT1041975, I.G.C.). E.K.S. is supported by NHMRC GNT1147498 and NBCF IIRS-20-025. N.L. is supported by Cancer Council Victoria.