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Phenotype variability of two FAP families with an identical APC germline mutation at codon 1465: a potential modifier effect?
Author(s) -
MartinDenavit T,
Duthel S,
Giraud S,
Olschwang S,
Saurin JC,
Plauchu H
Publication year - 2001
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1034/j.1399-0004.2001.600206.x
Subject(s) - heteroduplex , familial adenomatous polyposis , genetics , phenotype , adenomatous polyposis coli , mutation , gene , biology , germline , germline mutation , mutation testing , microbiology and biotechnology , cancer , colorectal cancer
We report the cases of two familial adenomatous polyposis (FAP) families who presented with the same 2 base pair deletion (AG) at codon 1465 of the adenomatous polyposis coli ( APC ) gene, but showed phenotypic variability. The mutation was revealed by a simple nonradioactive method using a heteroduplex analysis and identified by a sequence analysis. This observation suggests the responsibility of modifier genes in FAP patients’ phenotype.