HEALTH OF WOMAN. 2016.1(107):170–175; doi 10.15574/HW.2016.107.170 
 

Frequency and characteristics of family cancer syndrome in ovarian cancer patients 
 

Palyichuk O. V.

Institute of experimental pathology, oncology and radiobiology R. E. Kavetsky NAS of Ukraine, Kyiv

MI «Cherkasy regional Oncology center» CRС 
 

The aim of the study: to assess the results of clinical, clinical-genealogical and molecular-genetic examination of OC patients and to substantiate its role as an important step for creation of genetic risk groups of developing neoplasia in the family. 
 

Materials and methods. The results of comprehensive clinical, clinical-genealogical and molecular-genetic examinations of 158 patients with OC, stage І-ІV are presented. It was found that in probands’ families (OC patients) malignant tumors of female reproductive system, gastro-intestinal tract and other were prevailing that conform to Lynch syndrome type II (family cancer syndrome). 
 

Results. Among the tumors of female reproductive system ovarian cancer was diagnosed in 27.5%, breast cancer – in 16.1%, uterine cancer – in 8.1%, and tumors of gastro-intestinal tract – in 20.2% of cases. Accordingly to family trees data cancer was more common in proband’s mothers (35.5%), grandmothers (29.9%), and aunts (11.6%), and male relatives (19.8%). Molecular-genetic examination of genomic DNA of peripheral blood revealed 5382insC mutation in BRCA1 gene in 9 patients with serous OC, 5 from them had family cancer syndrome. Mutation 6174delT in BRCA2 gene in this clinical material was not detected. It was substantiated that family cancer history, which is determined by clinical-genealogical analysis of family members’ cancer morbidity, in an important and essential component of diagnostics of hereditary/non-hereditary OC variants, and it is also important for creation of groups at genetic risk for developing family cancer. Germinal mutations in indicated suppressor genes are predictive factors of neoplasia development in family and proband’s progeny and suggest the phenomenon of genetic predisposition to cancer development in the family. 
 

Conclusions. 1. The results of complex clinical, clinical-genealogical and molecular-genetic examination indicate that in families of 46.2% of probands (OC patients) malignant tumors, mainly of female reproductive system organs (OC, BC. UC), gastro-intestinal tract (CC, GC) and others are found, that corresponds to Lynch syndrome type II (family cancer syndrome). 2. Most frequent tumors, registered in relatives, were the tumors of female reproductive system organs (51.7%) among them OC accounted for 27.5%, BC – for 16.1%, UC – for 8.1%, and tumors of gastro-intestinal tract – for 20.2%. According to family trees data cancer was more common in proband’s mothers (35.5%), grandmothers (29.9%), and aunts (11.6%), and also male relatives (19.8%). 3. Serous OC prevailed in probands. Weak association between number of patients with low and high grade malignancy was seen (Yule’s coefficient of association was 0.285). 4. Molecular-genetic study of genomic DNA of peripheral blood determined mutation 5382insC in the gene BRCA1 in 9 patients with serous OC, each from them had family cancer syndrome. Mutation 6174delT in the gene BRCA2 in this clinical material was not detected. 5. Family cancer history that is determined by clinical-genealogical analysis of the family is an important component in diagnostics of hereditary/non-hereditary variants of OC and creation of genetic risk groups for cancer development in the family with family cancer syndrome. Germinal mutation 5382insC in the gene BRCA1 is a predictive factor of neoplasia development in proband’s progeny and suggests the phenomenon of genetic predisposition to cancer development in the family. Clinical-genealogical examination can be assessed as an integral part of diagnostic and preventive work of gynecologists, oncogynecologists and oncogenetics. 
 

Key words: ovarian cancer, family cancer syndrome, mutations in BRCA1 and BRCA2 genes. 
 

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