Targeted massively parallel sequencing characterises the mutation spectrum of PALB2 in breast and ovarian cancer cases from Poland and Ukraine

A Myszka; T Nguyen-Dumont; P Karpinski; MM Sasiadek; H Akopyan; F Hammet; H Tsimiklis; DJ Park; BJ Pope; R Slezak; N Kitsera; A Siekierzynska; MC Southey

Journal article

Targeted massively parallel sequencing characterises the mutation spectrum of PALB2 in breast and ovarian cancer cases from Poland and Ukraine

A Myszka, T Nguyen-Dumont, P Karpinski, MM Sasiadek, H Akopyan, F Hammet, H Tsimiklis, DJ Park, BJ Pope, R Slezak, N Kitsera, A Siekierzynska, MC Southey

Familial Cancer | SPRINGER | Published : 2018

DOI: 10.1007/s10689-017-0050-6

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Abstract

Loss-of-function germline mutations in the PALB2 gene are associated with an increase of breast cancer risk. The purpose of this study was to characterise the spectrum of PALB2 mutations in women affected with breast or ovarian cancer from South-West Poland and West Ukraine. We applied Hi-Plex, an amplicon-based enrichment method for targeted massively parallel sequencing, to screen the coding exons and proximal intron–exon junctions of PALB2 in germline DNA from unrelated women affected with breast cancer (n = 338) and ovarian cancer (n = 89) from Poland (n = 304) and Ukraine (n = 123). These women were at high-risk of carrying a genetic predisposition to breast and/or ovarian cancer due to..

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University of Melbourne Researchers

Tu Nguyen Author

Daniel Park Author

Bernard Pope Author

Melissa Southey Author

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Grants

Awarded by National Health and Medical Research Council

Funding Acknowledgements

This work was supported by the Australian National Health and Medical Research Council (APP1029974 and APP1074383) and by a Victorian Life Sciences Computation Initiative Grant (No. VR0182) on its Peak Computing Facility, an initiative of the Victorian Government. AM was supported by a Research Fellowship within "UR-modernity and future of region" from the European Social Fund, Human Capital, national Cohesion Strategy (Contract No. UDA-POKL.04.01.01-00-068/10-00). TN-D is a Fellow of the National Breast Cancer Foundation (Australia). MCS is a National Health and Medical Research Council (Australia) Senior Research Fellow (APP1061177).