Background: BRCA1 and BRCA2 mutations are associated with a higher risk of breast and ovarian tumors. This study evaluated the emotional states of women 1 month after having received the results of the genetic test and assessed eventual associations with the type of outcome, personal/familiar disease history and major socio-demographic variables.
Methods: The study, an observational retrospective one, involved 91 women, evaluated 1 month after receiving their results. Patients were administered the Hospital Anxiety and Depression Scale, the Profile of Mood States and emotional Thermometers.
Results: Anxiety was significantly higher than depression ( < 0.001), and 21.3% and 21.3% of the sample were, respectively, possible and probable cases for anxiety, whereas 13.5% and 10.1% were possible and probable cases for depression. Within the six mood states, Confusion-Bewilderment (M = 48.5) was the lowest, whereas Fatigue-Inertia (M = 52.3) was the highest. Differences were recorded within the ten assessed emotions too. Being a proband/nonproband and being or not a cancer patient were associated with many tested variables.
Conclusion: The psycho-emotional screening of women undertaking genetic counseling is relevant and should cover a large range of dimensions.
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http://dx.doi.org/10.1186/s13053-017-0077-6 | DOI Listing |
Eur Urol
January 2025
Department of Oncology, City of Hope Cancer Center, Goodyear, AZ, USA.
Background And Objective: Selection of patients harboring mutations in homologous recombination repair (HRR) genes for treatment with a PARP inhibitor (PARPi) is challenging in metastatic castration-resistant prostate cancer (mCRPC). To gain further insight, we quantitatively assessed the differential efficacy of PARPi therapy among patients with mCRPC and different HRR gene mutations.
Methods: This living meta-analysis (LMA) was conducted using the Living Interactive Evidence synthesis framework.
ESMO Open
January 2025
Department of Biomedicine, Neuroscience and Advanced Diagnostics (Bind.), Section of Medical Oncology, University of Palermo, Palermo, Italy.
Background: Germline pathogenic variants (gPVs) in the breast cancer susceptibility gene 1/2 (BRCA1/2) genes confer high-penetrance susceptibility to breast cancer (BC) and ovarian cancer (OC). Although most female BRCA carriers develop only a single BRCA-associated tumor in their lifetime, a smaller subpopulation is diagnosed with multiple primary tumors (MPTs). The genetic factors influencing this risk remain unclear.
View Article and Find Full Text PDFESMO Open
January 2025
Dana-Farber Cancer Institute, Boston, USA. Electronic address:
Background: Lu-prostate-specific membrane antigen (PSMA)-617 (LuPSMA) is a radionuclide therapy approved for patients with PSMA-avid metastatic castrate-resistant prostate cancer (mCRPC). We evaluated whether alterations in the DNA damage repair (DDR) pathway were associated with outcomes to LuPSMA.
Patients And Methods: We identified an institutional cohort of men (n = 134) treated with ≥2 cycles of LuPSMA who had panel-based germline and/or tumor genomic sequencing.
BMC Cancer
January 2025
Medical and Translational Oncology, Department of Oncology, Azienda Ospedaliera Santa Maria, Viale Tristano Di Joannuccio 1, Terni, 05100, Italy.
Prostate cancer (PCa) ranks among the most prevalent malignancies in men, with notable associations to Hereditary Breast and Ovarian Cancer Syndrome (HBOC) and Lynch Syndrome, both linked to germline likely pathogenetic variant/pathogenetic variant (LPV/PV) in genes involved in DNA repair. Among these genes, BRCA2 in PCa patients is the most frequently altered. Despite progresses, challenges in BRCA carriers detection persist, with a quarter of PCa cases lacking family history.
View Article and Find Full Text PDFClin Proteomics
January 2025
Division of Breast Surgery, Department of Surgery, Taipei Veterans General Hospital, Taipei, 112, Taiwan.
Integrating functional proteomics and next-generation sequencing (NGS) offers a comprehensive approach to unraveling the molecular intricacies of breast cancer. This study investigates the functional interplay between genomic alterations and protein expression in Taiwanese breast cancer patients. By analyzing 61 breast cancer samples using tandem mass tag (TMT) labeling and mass spectrometry, coupled with whole-exome sequencing (WES) or targeted sequencing, we identified key genetic mutations and their impact on protein expression.
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