Rapid detection of rare variants and common polymorphisms in the APC gene by PCR-SSCP for presymptomatic diagnosis and showing allele loss.

doi:10.1136/jmg.32.7.568

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Article

Rapid detection of rare variants and common polymorphisms in the APC gene by PCR-SSCP for presymptomatic diagnosis and showing allele loss.

Journal of medical genetics - 1 Jul 1995

Gayther S A, Sud R, Wells D, Tsioupra K, Delhanty J D

Abstract excerpt

During the course of screening the 5' half of exon 15 of the APC gene for germline and somatic mutations in two groups of patients, those with the inherited cancer prone syndrome adenomatous polyposis coli (APC) or with sporadic colorectal cancer, we have identified a number of intragenic changes that are not associated with the disease phenotype. Four of these changes are rare variants, each confined to one or...

Topics

Adenomatous Polyposis Coli
Alleles
Codon
Colorectal Neoplasms
DNA Mutational Analysis
Exons
Female
Gene Deletion
Genes, APC
Genetic Variation
Humans

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Male

Pedigree

Polymerase Chain Reaction

Polymorphism, Genetic

Polymorphism, Single-Stranded Conformational

Sensitivity and Specificity

Source

Open in PubMed Open full text

Identifiers

PMID: 7562975
DOI: 10.1136/jmg.32.7.568
PMCID: PMC1050555

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-7562975-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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