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Minerva Biotecnologica 2004 September;16(3):173-9


lingua: Inglese

Polymorphisms for the individual risk assessment of gynecologic malignancies and preeclampsia

Tempfer C. B. 1, 2, Schneeberger C. 1, Riener E. K. 2, Huber J. C. 1

1 Department of Obstetrics and Gynecology, University of Vienna Medical School, Vienna, Austria; 2 Department of Obstetrics and Gynecology, University of Freiburg Medical School, Freiburg, Germany


Polymorphisms are new candidate markers for individualized risk assessment and determination of pharmacogenetic treatment variation. Evidence based on data from prospective observational studies and meta-analyses of retrospective association studies has accumulated in recent years. The majority of functionally relevant single nucleotide polymorphisms (SNPs) known today have not yet been incorporated into clinical practice. These new markers may have, however, a great potential impact on obstetrics and gynecology in the near future. The highest level of evidence to date linking polymorphisms and breast cancer comes from nested case-control studies within the prospective Nurses’ Health Study. These data establish 4 polymorphi-smshPRB +331 G/A, AR CAG repeat, CYP 19 (TTTA)10, and CYP 1A1 Msp Ias risk factors for spontaneous breast cancer, exerting their effects either independently (hPRB +331 G/A, CYP 19 [TTTA]10) or in association with co-factors (AR CAG repeat, CYP 1A1 Msp I). In addition, meta-analyses of association studies establish the TGFBR1*6A, GSTP Ile105Val, GSTM1 gene deletion, and TP53 Arg72Pro polymorphisms as low-penetrance genetic risk factors of sporadic breast and ovarian cancer. The hPRB +331 G/A, the CYP 17 A2/A2, and the UGT 1A1 polymorphisms are candidate markers for endometrial cancer susceptibility. In the field of obstetrics, polymorphism have been well documented as risk factors of a series of disorders. Based on the data in the literature and a meta-analysis of 67 association studies, it can be concluded that the F5 Leiden G1691A, F2 G20210A, and AGT Met235Thr polymorphisms are significant risk factors for preeclampsia, pregnancy-associated thrombosis, and early and late miscarriages. In summary, the available evidence points to a number of polymorphisms of a wide variety of genes as strong hereditary determinants of the susceptibility to benign and malignant gynecologic and obstetric conditions.

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