Article

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

2019-12-30

Abstract excerpt

<title>Abstract</title> <p>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 e...

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Literature Corpus work: 0c0277dd-15a6-52aa-acb2-434b3e443eb6
DOI: 10.21203/rs.2.15420/v2

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