Familial adenomatous polyposis: age of onset and association with mutations of the APC gene in patients from West Ukraine

Aim. To evaluate the average age of familial adenomatous polyposis (FAP) onset in both males, females and in their relatives, carriers or not carriers of the APC gene mutations, to estimate the anticipation in successive generations for early identification of the individuals in the risk group. Meth...

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Bibliographic Details
Published in:Biopolimery i kletka 2017, Vol.33 (2), p.102-115
Main Authors: Lozynska, M. R., Lozynskyy, Y. S., Plawski, A., Pinyazhko, R. O., Prokopchuk, N. M., Fedota, O. M.
Format: Article
Language:English
Subjects:
Adenomatous polyposis coli
Age
Colon
Colorectal cancer
Familial adenomatous polyposis
Females
Genetic counseling
Genetic disorders
Males
Medical records
Mutation
Polyps
Statistical analysis
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Summary:Aim. To evaluate the average age of familial adenomatous polyposis (FAP) onset in both males, females and in their relatives, carriers or not carriers of the APC gene mutations, to estimate the anticipation in successive generations for early identification of the individuals in the risk group. Methods. The medical records, genealogical information were gathered and molecular genetic study of blood was carried out in 25 probands with adenomatous polyposis. FAP was confirmed in 44.0 % of probands. The probands with FAP had 36 affected relatives. The amplified frag-ments of the APC gene were screened for the mutations involving heteroduplex analysis and detection of single-stranded conformational polymorphism. The age of FAP onset was evaluated in probands and their relatives. The anticipation index (A) was calculated. Results. Among patients with FAP 61.7 % were males and 38.3 % were females. The age of FAP onset in males was 36.0 ± 1.4 years, while in females the disease manifested earlier – in 29.5 ± 2.4 years (p
ISSN:0233-7657
1993-6842
DOI:10.7124/bc.000948