Association between serum levels and pentanucleotide polymorphism in the sex hormone binding globulin gene and cardiovascular risk factors in females with polycystic ovary syndrome.

The objective of the present study was to evaluate the influence of TAAAA repeat allele length on the levels of serum sex hormone binding globulin (SHBG) and cardiovascular risk factors in patients with polycystic ovary syndrome (PCOS). The study included 91 females with PCOS and 99 healthy controls. Phenotypic hyperandrogenism, body mass index and waist‑to‑hip ratio (WHR) were recorded.

Protein kinase C inhibitors sensitize GNAQ mutant uveal melanoma cells to ionizing radiation.

Purpose: Uveal melanoma (UM) tumors require large doses of radiation therapy (RT) to achieve tumor ablation, which frequently results in damage to adjacent normal tissues, leading to vision-threatening complications. Approximately 50% of UM patients present with activating somatic mutations in the gene encoding for G protein αq-subunit (GNAQ), which lead to constitutive activation of downstream pathways, including protein kinase C (PKC). In this study, we investigated the impact of small-molecule PKC inhibitors bisindolylmaleimide I (BIM) and sotrastaurin (AEB071), combined with ionizing radiation (IR), on survival in melanoma cell lines.

Genetic polymorphisms of INS, INSR and IRS-1 genes are not associated with polycystic ovary syndrome in Croatian women.

Obesity and insulin resistance is a common finding in patients with polycystic ovary syndrome (PCOS). Significant number of PCOS women experience insulin resistance that is irrespective of the degree of obesity suggesting possible genetic basis. Therefore, several polymorphisms of the genes encoding for the insulin (INS), insulin receptor (INSR) or insulin receptor substrates (IRS) involved in postreceptor signaling have been explored for their association with abnormal sensitivity to insulin in PCOS.

KRAS rs61764370 is associated with HER2-overexpressed and poorly-differentiated breast cancer in hormone replacement therapy users: a case control study.

Background: A single nucleotide polymorphism located in the 3'-untranslated region of the KRAS oncogene (KRAS variant; rs61764370) disrupts a let-7 miRNA binding and was recently reported to act as a genetic marker for increased risk of developing human cancers. We aimed to investigate an association of the KRAS variant with sporadic and familial breast cancer and breast tumor characteristics.

Methods: Genotyping was accomplished in 530 sporadic postmenopausal breast cancer cases, 165 familial breast cancer cases (including N = 29, who test positive for BRCA1/2 mutations) and 270 postmenopausal control women using the flurogenic 5' nuclease assay.

Combined effect of CYP1B1, COMT, GSTP1, and MnSOD genotypes and risk of postmenopausal breast cancer.

Objective: Estrogen plays a key role in breast cancer development and functionally relevant genetic variants within the estrogen metabolic pathway are prime candidates for a possible association with breast cancer risk. We investigated the independent and the combined effects of commonly occurring polymorphisms in four genes encoding key proteins of estrogen metabolic pathway on their potential contribution to breast cancer risk.

Methods: We studied 530 breast cancer cases and 270 controls of the same age and ethnicity participating in a case-control study of postmenopausal women.

Breast tumor characteristics in hormone replacement therapy users.

The aim of this study was to further elucidate the influence of HRT use, regarding duration, regimen and route of administration, on breast tumor characteristics. We evaluated the associations between HRT use and breast tumor characteristics in 530 postmenopausal women diagnosed with invasive breast cancer. Detailed information on HRT use and mammographic attendance were collected through a postal questionnaire.

Estrogen metabolism genotypes, use of long-term hormone replacement therapy and risk of postmenopausal breast cancer.

Association between long-term hormone replacement therapy (HRT) use and increased risk of breast cancer is still under debate. Functionally relevant genetic variants within the estrogen metabolic pathway may alter exposure to exogenous sex hormones and affect the risk of postmenopausal breast cancer. We investigated the associations of common polymorphisms in 4 genes encoding key proteins of the estrogen metabolic pathway, duration of HRT use and their interactions with breast cancer risk.

Age at menarche and menopause is not associated with two common genetic variants in the methylenetetrahydrofolate reductase (MTHFR) gene.

Objectives: The study aimed at investigating the independent and the combined effects of the two common genetic variants in the methylenetetrahydrofolate reductase (MTHFR) gene, 677C > T and 1298A > C, and their interaction with lifestyle factors on timing of menarche and natural menopause.

Methods: Postmenopausal women (N = 792) were assessed for the association of the two genetic variants with age at menarche (AM). A subsample of 578 of them who had a natural menopause were further investigated for the association of the two genetic variants with age at natural menopause (ANM).

Lack of association between methylenetetrahydrofolate reductase genetic polymorphisms and postmenopausal breast cancer risk.

Published data on the association between methylenetetrahydrofolate reductase (MTHFR) gene polymorphisms and breast cancer risk are inconclusive. We investigated the independent and the combined effects of two commonly occurring polymorphisms, MTHFR 677C>T (rs1801133) and MTHFR 1298A>C (rs1801131), as well as their interaction with the use of hormone replacement therapy (HRT), to determine their potential contribution to breast cancer risk. We studied 530 breast cancer cases and 270 controls of the same age and ethnicity participating in a case-control study of postmenopausal women.

The influence of the genetic variant within miRNA-binding site in estrogen receptor alpha gene on the risk of breast cancer in postmenopausal women on hormone replacement therapy.

Objective: The aim of the study was to analyze the impact of the rs2747648 genetic variant in the estrogen receptor alpha (ER1) gene affecting a putative miR-453-binding site on the risk of breast cancer in postmenopausal women. Furthermore, we examined if the risk changes in a subset of women on hormone replacement therapy (HRT).

Patients And Methods: We studied 530 breast cancer cases and 270 controls of the same age and ethnicity.