High-resolution melting (HRM) re-analysis of a polyposis patients cohort reveals previously undetected heterozygous and mosaic APC gene mutations

Familial Cancer

Volumn 14, Issue 2, 2015, Pages 247-257

  Out, Astrid A ^a   van Minderhout, Ivonne J H M ^a   van der Stoep, Nienke ^a   van Bommel, Lysette S R ^a   Kluijt, Irma ^b   Aalfs, Cora ^b   Voorendt, Marsha ^c   Vossen, Rolf H A M ^a   Nielsen, Maartje ^a   Vasen, Hans F A ^a,d   Morreau, Hans ^a   Devilee, Peter ^a   Tops, Carli M J ^a   Hes, Frederik J ^a  

^a LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^b ACADEMIC MEDICAL CENTER   (Netherlands)

^c RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^d Foundation for the Detection of Hereditary Tumours   (Netherlands)

Author keywords

APC; Colorectal cancer; High resolution melting; Molecular diagnostics; Mosaicism; Polyposis

Indexed keywords

APC PROTEIN; DNA;

ADOLESCENT; ADULT; AGED; ALLELE; AMPLICON; ARTICLE; COHORT ANALYSIS; COLORECTAL POLYP; CONTROLLED STUDY; DILUTION; DNA ISOLATION; DNA SEQUENCE; FEMALE; GENETIC VARIABILITY; HETEROZYGOSITY; HIGH RESOLUTION MELTING ANALYSIS; HUMAN; HUMAN TISSUE; LEUKOCYTE; MAJOR CLINICAL STUDY; MALE; MOSAICISM; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; SINGLE STRAND CONFORMATION POLYMORPHISM; COLON POLYPOSIS; GENETICS; MIDDLE AGED; MUTATION; POLYMERASE CHAIN REACTION; TUMOR SUPPRESSOR GENE;

ADENOMATOUS POLYPOSIS COLI; ADOLESCENT; ADULT; AGED; COHORT STUDIES; FEMALE; GENES, APC; HUMANS; MALE; MIDDLE AGED; MOSAICISM; MUTATION; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 84939417434     PISSN: 13899600     EISSN: 15737292     Source Type: Journal    
DOI: 10.1007/s10689-015-9780-5     Document Type: Article

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