Journal article

Germline whole exome sequencing of a family with appendiceal mucinous tumours presenting with pseudomyxoma peritonei

Mei Sim Lung, Catherine A Mitchell, Maria A Doyle, Andrew C Lynch, Kylie L Gorringe, David DL Bowtell, Ian G Campbell, Alison H Trainer

BMC CANCER | BMC | Published : 2020


BACKGROUND: Familial cases of appendiceal mucinous tumours (AMTs) are extremely rare and the underlying genetic aetiology uncertain. We identified potential predisposing germline genetic variants in a father and daughter with AMTs presenting with pseudomyxoma peritonei (PMP) and correlated these with regions of loss of heterozygosity (LOH) in the tumours. METHODS: Through germline whole exome sequencing, we identified novel heterozygous loss-of-function (LoF) (i.e. nonsense, frameshift and essential splice site mutations) and missense variants shared between father and daughter, and validated all LoF variants, and missense variants with a Combined Annotation Dependent Depletion (CADD) scaled..

View full abstract


Awarded by Victorian Cancer Council

Awarded by U.S. Army Medical Research and Materiel Command

Awarded by National Health and Medical Research Council of Australia (NHMRC)

Funding Acknowledgements

This study was funded through a grant from the Australian National Health and Medical Research Council and Victorian Cancer Council (APP1028374). Mei Sim Lung is funded by the Australian Postgraduate Award through the University of Melbourne, Australia.The Australian Ovarian Cancer Study (AOCS) was supported by the U.S. Army Medical Research and Materiel Command under DAMD17-01-1-0729, The Cancer Council Victoria, Queensland Cancer Fund, The Cancer Council New South Wales, The Cancer Council South Australia, The Cancer Foundation of Western Australia, The Cancer Council Tasmania and the National Health and Medical Research Council of Australia (NHMRC; ID400413, ID400281), Ovarian Cancer Australia (OCA) and the Peter MacCallum Foundation.