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

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

Abstract 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 t...

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Bibliographic Details
Main Authors: Mei Sim Lung, Catherine A. Mitchell, Maria A. Doyle, Andrew C. Lynch, Kylie L. Gorringe, David D. L. Bowtell, Australian Ovarian Cancer Study Group, Ian G. Campbell, Alison H. Trainer
Format: Article
Language:English
Published: BMC 2020-05-01
Series:BMC Cancer
Subjects:
Pseudomyxoma peritonei
Appendiceal tumour
Familial
Germline predisposition
Exome sequencing
Online Access:http://link.springer.com/article/10.1186/s12885-020-6705-y

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http://link.springer.com/article/10.1186/s12885-020-6705-y

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