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

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

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