Association between family history, mutation locations, and prevalence of BRCA1 or 2 mutations in ovarian cancer patients.

We investigated the prevalence of germline BRCA mutations in a population-based cohort of Austrian women diagnosed with ovarian cancer and its association with family history of cancer. We prospectively collected family pedigrees of 443 Austrian ovarian cancer patients who had been tested for the presence of a germline BRCA or 2 mutations and correlated the familial breast and ovarian cancer burden with the prevalence of BRCA mutations and disease onset. The probability of carrying a gBRCA mutation in patients without family history of cancer is 14% (95% CI 9%-22%), as opposed to 45% (95% CI 31%-59%) of patients with at least one family member with ovarian cancer, and 47% (95% CI 40%-54%) if other relatives have developed breast cancer.

Improving comprehension of genetic counseling for hereditary breast and ovarian cancer clients with a visual tool.

Objective: Genetic counseling and testing can be offered to individuals who are at high risk of carrying a breast cancer (BRCA) gene mutation. However, the content of genetic counseling could be difficult to understand due to complex medical information. The aim of this study was to investigate if comprehension can be improved with a new genetic counseling tool (NGCT hereafter; a tool that combines complex medical information with pictures, diagrams and tables) as compared to conventional oral-only genetic counseling (CGC).

Changes of Socio-demographic data of clients seeking genetic counseling for hereditary breast and ovarian cancer due to the "Angelina Jolie Effect".

Background: The purpose of this study was to evaluate socio-demographic characteristics of clients claiming genetic counseling for hereditary breast and ovarian cancer (HBOC) in Austria. Furthermore, changes of these parameters before and after Angelina Jolie's (AJ) disclosure of carrying a BRCA mutation were evaluated.

Methods: In this prospective, nonrandomized study 268 consecutive clients seeking genetic counseling for HBOC at the Medical University of Vienna, Department of Obstetrics and Gynecology, Vienna, Austria between June 2012 and June 2014 were included.

Profiling of Cross-Functional Peptidases Regulated Circulating Peptides in BRCA1 Mutant Breast Cancer.

Women with inherited BRCA1 mutations are more likely to develop breast cancer (BC); however, not every carrier will progress to BC. The aim of this study was to identify and characterize circulating peptides that correlate with BC patients carrying BRCA1 mutations. Circulating peptides were enriched using our well-designed nanoporous silica thin films (NanoTraps) and profiled by mass spectrometry to identify among four clinical groups.

Triple-modality screening trial for familial breast cancer underlines the importance of magnetic resonance imaging and questions the role of mammography and ultrasound regardless of patient mutation status, age, and breast density.

Purpose: To evaluate the breast cancer screening efficacy of mammography, ultrasound, and magnetic resonance imaging (MRI) in a high-risk population and in various population subgroups.

Patients And Methods: In a single-center, prospective, nonrandomized comparison study, BRCA mutation carriers and women with a high familial risk (> 20% lifetime risk) for breast cancer were offered screening with mammography, ultrasound, and MRI every 12 months. Diagnostic performance was compared between individual modalities and their combinations.

Histopathological characterization of ulcerated breast cancer and comparison to their non-ulcerated counterparts.

Approximately 6-15 % of breast cancer patients are diagnosed with primary ulcerated breast cancer (ULBC). ULBC is known to be associated with short recurrence free and poor overall survival. Therefore, the purpose of this study was to characterize ULBC and compare the histopathological findings with those of non-ulcerative breast cancer (NULBC).

Candidate genetic modifiers for breast and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers.

Background: BRCA1 and BRCA2 mutation carriers are at substantially increased risk for developing breast and ovarian cancer. The incomplete penetrance coupled with the variable age at diagnosis in carriers of the same mutation suggests the existence of genetic and nongenetic modifying factors. In this study, we evaluated the putative role of variants in many candidate modifier genes.

Central European BRCA2 mutation carriers: birth cohort status correlates with onset of breast cancer.

Background: Mutations in brca1 and 2 genes lead to a significant increase in the lifetime risk of developing breast (BC) and ovarian cancer (OC). There are indications that birth cohort can influence the cancer risk in brca1 mutation carriers. Therefore, we investigated the risks for BC and OC associated with brca2 mutations in a cohort of female mutation carriers of a genetically heterogeneous Central European population.

Is breast cancer in young Asian women more aggressive than in Caucasians? A cross-sectional analysis.

Ethnic differences in breast cancer are well described in studies comparing Hispanic and African-American populations to Caucasian populations. The aim of this study was to analyze the biological characteristics of breast cancer (BC) in the young Asian/Han Chinese population compared to Caucasians/Central Europeans. Histopathologies of 642 invasive BC in women at the age of 40 years and younger were analyzed in China and Austria.

Association of BRCA1/2 mutations with FMR1 genotypes: effects on menarcheal and menopausal age.

Objective: Female BRCA (breast cancer gene)-1 and BRCA-2 mutations are significantly associated with risk of developing breast and ovarian cancers, in turn, associated with female infertility. BRCA-1 mutations have also been associated with occult primary ovarian insufficiency (OPOI), as have different mutations of the FMR1 gene. We, therefore, hypothesized that FMR1 genotypes may be associated with menarcheal and menopausal ages of BRCA mutation carriers.

A cross-sectional study of elderly Asian and European women with primary operable breast cancer aged 70 and older. Are there differences?

Background: Breast cancer (BC) is becoming a disease of the elderly. Additionally, BC-incidence is rising in Asia. The aim of this study was to explore clinico-pathological characteristics and differences of breast cancer in elderly Asian/Han-Chinese compared to Caucasian/Austrian women.

Common variants at the 19p13.1 and ZNF365 loci are associated with ER subtypes of breast cancer and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers.

Background: Genome-wide association studies (GWAS) identified variants at 19p13.1 and ZNF365 (10q21.2) as risk factors for breast cancer among BRCA1 and BRCA2 mutation carriers, respectively.

Assessment of a six gene panel for the molecular detection of circulating tumor cells in the blood of female cancer patients.

Background: The presence of circulating tumor cells (CTC) in the peripheral blood of cancer patients has been described for various solid tumors and their clinical relevance has been shown. CTC detection based on the analysis of epithelial antigens might be hampered by the genetic heterogeneity of the primary tumor and loss of epithelial antigens. Therefore, we aimed to identify new gene markers for the PCR-based detection of CTC in female cancer patients.

Surgical breast lesions in adolescent females.

Purpose: Breast diseases in teenage girls are fortunately uncommon, with most presenting masses being benign. The aim of this study was to evaluate the histopathological results of breast lesions excised from adolescent females less than 19 years of age.

Methods: The authors reviewed the medical and pathology records at the University Hospital of Vienna, Department of Obstetrics and Gynaecology, between 1993 and 2006, retrospectively.

The validity of complex breast cysts after surgery.

Background: Breast cysts are the most common cause of benign breast masses. Simple breast cysts do not need further evaluation, but complex breast cysts require additional assessment due to the potential presence of malignancy. However, these complex cysts have rarely been examined and quantified according to the associated cancer detection rate.