The frequency of BRCA1 and BRCA2 mutations is higher in Israel than in almost all other countries. One strategy to reduce the burden of hereditary breast and ovarian cancers is to offer genetic testing followed by risk-reducing surgery (mastectomy and salpingo-oophorectomy) for mutation carriers. The extent to which Israeli women who carry mutations undergo these surgeries is not well characterized. Israeli women who are BRCA1 or BRCA2 mutation carriers and followed at a single high-risk clinic were asked to complete a questionnaire detailing their clinical histories at the time of genetic results disclosure and a follow-up questionnaire was completed 18 or more months thereafter. A total of 205 mutation carriers completed the questionnaires. Of 170 women with no cancer history, 84 (49%) had a risk-reducing bilateral salpingo-oophorectomy and 22 (13%) had a risk-reducing mastectomy. Five of 35 (14.3%) women with breast cancer opted for contralateral mastectomy. Approximately one half of Israeli women with a BRCA1 or BRCA2 mutation opt for risk-reducing oophorectomy, but the rate of risk-reducing mastectomy is only 13%.
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http://dx.doi.org/10.1111/cge.12149 | DOI Listing |
Jpn J Clin Oncol
January 2025
Department of Obstetrics and Gynecology, Tohoku University School of Medicine, 1-1, Seiryo-machi, Aoba-ku, Sendai, Miyagi 980-8574, Japan.
Objectives: To identify a method for breast cancer (BC) surveillance in patients with epithelial ovarian cancer (EOC) with germline BRCA1/2 pathogenic variants (gBRCA1/2m) and the incidence of BC after EOC in the era of broad PARP inhibitors use.
Methods: We retrospectively analyzed the data on EOC patients who had gBRCA1/2m by genetic testing between January 2017 and August 2023 in our single center.
Results: Of 125 patients with EOC, 33 had gBRCA1/2m.
Surg Today
January 2025
Department of Surgery, Division of Breast and Endocrine Surgery, School of Medicine, Hyogo Medical University, 1-1 Mukogawa-cho, Nishinomiya, Hyogo, 663-8501, Japan.
Purpose: To clarify the status of multigene panel testing for suspected hereditary breast cancer in our institute, and disclose the characteristics of the variants detected.
Methods: This was a retrospective study of individuals who underwent next-generation sequencing-based multigene panel testing at our institute to investigate hereditary genetic variants for suspected hereditary breast cancer.
Results: We identified 36 women who underwent multigene panel testing: 8 (22.
J Pak Med Assoc
January 2025
Department of Pathology, Islamic International Medical College, Rawalpindi, Pakistan.
Objectives: To determine the frequency of genetic variants in breast cancer types 1 and 2 gene in breast cancer Pakistani patients.
Methods: The case-control study was conducted at the Islamic International Medical College and Pakistan Railway Hospital, Rawalpindi, Pakistan, from October 2022 to August 2023, and comprised females with breast cancer in group A, with an age range of 23-83 years (mean 51.9 ± 10.
Zhonghua Zhong Liu Za Zhi
January 2025
Department of Pathology, China-Japan Friendship Hospital, Beijing100029, China.
To analyze the clinical significance of molecular classification and hereditary phenotype in endometrial carcinoma (EC) based on high throughput sequencing (NGS). 97 EC samples were collected retrospectively from December 2019 to October 2022 in China-Japan Friendship Hospital. NGS technique was used to analyze the molecular classification, POLE hypermutation, microsatellite high Instability/mismatch repair dysfunction (MSI-H/MMRd), P53 protein abnormality (P53 abn), and non-specific molecular profile (NSMP).
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January 2025
Department of Nursing, The Second Affiliated Hospital of Fujian Medical University, Quanzhou 362000, China. Electronic address:
Background: It is largely unidentified concerning the underlying genetic causes responsible for triple-negative breast cancers (TNBC), with unpredictable disease recurrence. This study aimed to examine the role of ZNF703 (Zinc finger 703) in the malignant behaviors of TNBC and its role in predicting disease-free survival (DFS).
Methods: After downregulation of ZNF703 with short interfering RNA (siRNA), we examined the proliferation of TNBC cell line MDA-MB-231 by sulforhodamine B (SRB) assay, the invasion of cells by a transwell invasion model, and the migration of cells by the monolayer wound-healing experiment.
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