1. [Characteristics of selected features of hereditary ovarian cancer in carriers of constitutional BRCA1 gene mutation].
- Author
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Menkiszak J, Górski B, Jakubowska A, Gronwald J, Huzarski T, Byrski T, Foszczyńska-Kłoda M, Fliciński J, Brzosko M, Rzepka-Górska I, and Jan L
- Subjects
- Adult, Aged, Case-Control Studies, DNA, Neoplasm genetics, Female, Genetic Predisposition to Disease, Humans, Middle Aged, Neoplasm Staging, Neoplastic Syndromes, Hereditary genetics, Neoplastic Syndromes, Hereditary pathology, Ovarian Neoplasms pathology, Retrospective Studies, Founder Effect, Genes, BRCA1, Germ-Line Mutation genetics, Ovarian Neoplasms genetics
- Abstract
Background: Hereditary ovarian cancer in BRCA1 constitutional mutation carriers shows a characteristic clinical pattern., Aim of the Study: Evaluation of the type of mutation, age of onset, clinical stage (FIGO) and morphological grade (G) of ovarian cancers in BRCA1 mutation carriers., Material and Method: We analyzed 16 cases of hereditary ovarian cancers from 14 families. The cases were included into studied group as a result of evaluation of pedigree criteria and molecular-genetic analyses detecting constitutional mutation--5382insC, C61G, 4153delA--founder mutations dominating the Polish population. The following features were compared between studied and control group: C1--age of onset of ovarian cancer in 5-year intervals (below 35, 40, 45, 50 and 55 years of age); C2--clinical staging (FIGO) I/II or III/IV: C3--grading (G1-G3). The data were analyzed statistically., Results: Age of onset < 50, OR--2.52 is highly characteristic for BRCA1 mutation carries. Similarly the staging III/IV is more often observed in studied group--OR 2.71. The most characteristic of studied group is high morphological grading--OR 12.38., Conclusions: 1. Features of HOC in studied material and in other populations are similar 2. High morphological grading is the most characteristic for HOC in BRCA1 carriers.
- Published
- 2002