Identification of an intronic single nucleotide polymorphism leading to allele dropout during validation of a CDH1 sequencing assay: implications for designing polymerase chain reaction-based assays.

doi:10.1097/gim.0b013e318159a369

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Identification of an intronic single nucleotide polymorphism leading to allele dropout during validation of a CDH1 sequencing assay: implications for designing polymerase chain reaction-based assays.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Nov 2007

Mullins Franklin M, Dietz Lisa, Lay Marla, Zehnder James L, Ford James, Chun Nicolette, Schrijver Iris

Abstract excerpt

PURPOSE: The CDH1 gene encodes the cell adhesion protein E-cadherin, and CDH1 germline mutations are associated with hereditary diffuse gastric cancer. Identification of individuals at high risk of developing diffuse gastric cancer affords the opportunity for endoscopic screening or elective prophylactic gastrectomy. We set out to develop a CDH1 sequencing assay for clinical use. METHODS: All exons of the CDH1...

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Identification of an intronic single nucleotide polymorphism leading to allele dropout during validation of a CDH1 sequencing assay: implications for designing polymerase chain reaction-based assays.

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