. Breast cancer remains a leading cause of cancer-related death among women, with genetic mutations playing a key role. While high-penetrance mutations are well-studied, moderate-to-low-penetrance mutations, which present challenges in clinical decision-making and patient outcomes, are less understood. This study explores the quality of life of breast cancer patients with moderate-penetrance mutations, focusing on the psychosocial and physical consequences of mastectomy and reconstruction to improve patient-centered care. . A cohort of 620 breast cancer patients treated at Regina Maria Private Health Network, Bucharest, between January 2022 and July 2024 was identified. From this group, 61 patients were selected based on the following criteria: (1) meeting NCCN genetic testing guidelines, (2) carrying moderate-to-low-penetrance mutations, (3) undergoing bilateral mastectomy with double reconstruction, and (4) agreeing to complete a modified version of the BREAST-Q questionnaire. Genetic testing was performed using a 125-gene next-generation sequencing panel. Statistical analyses included non-parametric tests to examine group differences and correlations. . Significant correlations were found between several factors. Emotional distress was positively correlated with concerns for family, while couple relationships and financial burden showed a strong positive association. Negative correlations were found between couple relationships and self-concept. Distress levels varied, with "Interference with personal relationships" causing more distress than "Impact on employment", and financial burden causing more distressing than impact on sexuality. . Prophylactic mastectomy significantly reduces cancer risk for women with moderate-penetrance mutations. This study highlights the relationship between surgical choices and quality-of-life factors, advancing personalized prevention strategies and emphasizing patient-centered care.

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11856230PMC
http://dx.doi.org/10.3390/jcm14041140DOI Listing

Publication Analysis

Top Keywords

breast cancer
16
moderate-to-low-penetrance mutations
8
cancer patients
8
moderate-penetrance mutations
8
patient-centered care
8
genetic testing
8
couple relationships
8
financial burden
8
mutations
6
breast
5

Similar Publications

European cancer mortality predictions for the year 2025 with focus on breast cancer.

Ann Oncol

February 2025

Department of Clinical Sciences and Community Health, University of Milan, Milan, Italy. Electronic address:

Background: We predicted the number of cancer deaths and rates for 2025 in the European Union (EU), its five most populous countries, and the UK, focusing on breast cancer.

Materials And Methods: We derived population data and death certificates for all cancers and major sites for the EU, France, Germany, Italy, Poland, Spain, and the UK since 1970, from the World Health Organization and United Nations databases. Estimates for 2025 were computed by linear regression on recent trends identified through Poisson joinpoint regression, considering the slope of the most recent trend segment.

View Article and Find Full Text PDF

Response to "The Impact of Baseline Comorbidities and Performance Status on HER2-Targeted Therapy Outcomes".

Clin Breast Cancer

February 2025

Department of Surgery, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul, Republic of Korea; Institute for Breast Cancer Precision Medicine, Yonsei University College of Medicine, Seoul, Republic of Korea. Electronic address:

View Article and Find Full Text PDF

Comparative Assessment of Real-Time and Offline Short-Lag Spatial Coherence Imaging of Ultrasound Breast Masses.

Ultrasound Med Biol

March 2025

Department of Computer Science, Johns Hopkins University, Baltimore, MD, USA; Department of Electrical & Computer Engineering, Johns Hopkins University, Baltimore, MD, USA; Department of Biomedical Engineering, Johns Hopkins University, Baltimore, MD, USA. Electronic address:

Objective: To perform the first known investigation of differences between real-time and offline B-mode and short-lag spatial coherence (SLSC) images when evaluating fluid or solid content in 60 hypoechoic breast masses.

Methods: Real-time and retrospective (i.e.

View Article and Find Full Text PDF

Cell-free supernatant of Clostridium leptum inhibits breast cancer cell proliferation.

Lett Appl Microbiol

March 2025

Zhejiang Provincial International S&T Cooperation Base for Active Ingredients of Medicinal and Edible Plants and Health, Zhejiang Provincial Key TCM Laboratory for Chinese Resource Innovation and Transformation, School of Pharmaceutical Sciences, Jinhua Academy, Zhejiang Chinese Medical University, Hangzhou, 310053, China.

Breast cancer has emerged as the leading cause of global cancer incidence, surpassing lung cancer. Accumulating evidence suggests that probiotics exhibit inhibitory effect on breast cancer progression, highlighting the need to identify gut flora-derived probiotics with potential anti-breast cancer properties. Here, we investigated the effect of the cell-free supernatant of C.

View Article and Find Full Text PDF

A comparative study on antioxidant properties, total phenolics, total flavonoid contents, and cytotoxic properties of marine green microalgae and diatoms.

J Genet Eng Biotechnol

March 2025

Department of Biochemistry, Faculty of Biotechnology and Biomolecular Sciences, Universiti Putra Malaysia, 43400 Serdang, Selangor, Malaysia; Aquatic Animal Health and Therapeutics Laboratory (AquaHealth), Institute of Bioscience, Universiti Putra Malaysia, 43400 Serdang, Selangor, Malaysia; Bioprocessing and Biomanufacturing Research Complex, Universiti Putra Malaysia, 43400 Serdang, Selangor, Malaysia. Electronic address:

Despite having valuable and novel metabolites, the marine microalgae species are still not thoroughly investigated for their pharmaceutical and nutraceutical importance. Therefore, this study was focused on investigating the crude extracts of marine green microalgae species, Tetraselmis sp., Nannochloropsis sp.

View Article and Find Full Text PDF

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!