Risk-reducing salpingo-oophorectomy (RRSO) is a procedure to reduce the risk of adnexal cancer in BRCA mutation carriers and for hormonal manipulation in women with breast cancer (BC). The goal of the study is to report the frequency of subsequent BC and high-grade serous carcinoma (HGSC) following RRSO in BRCA1 and BRCA2 mutation carriers and in patients with personal history of BC with or without BRCA mutation. A series of 147 consecutive patients who received a RRSO were reviewed. Patient's age, clinical history, BC histotype, gene mutation data, incidence of post-RRSO BC and HGSC and time intervals were analyzed. The cases were followed for a mean of 49 months. Group 1 consists of 97 cases with pathogenic or likely pathogenic "deleterious" mutation BRCA1 (n = 49) or BRCA2 (n = 48). Group 2 consists of 50 cases with history of BC and no documented BRCA gene mutation. Prior to RRSO, 42 (43%) cases in group 1 had a history of BC and all cases in group 2 had a history of BC. There was no difference between the groups in the age at diagnosis for BC (Mean of 44 years). Following RRSO, 2/49 cases (4%) with BRCA1 mutation were found to have occult HGSC and none in BRCA2 cases. There were also 1 BC recurrence and 1 primary BC with BRCA1 mutation compared to 5 recurrent BC in Group 2 (10%). In conclusion, the risk of subsequent recurrent BC after RRSO appears to be higher (10%) in patients with history of BC with no BRCA mutation when compared to (2%) in BRCA mutation carriers.
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http://dx.doi.org/10.1016/j.anndiagpath.2018.06.003 | DOI Listing |
Womens Health (Lond)
January 2025
Department of Pharmacy Practice, Midwestern University College of Pharmacy, Glendale Campus, Glendale, AZ, USA.
In 2023, a breast cancer risk assessment and a subsequent positive test for the BRCA-2 genetic mutation brought me to the uncomfortable intersection of a longstanding career as an advocate for high-quality medical evidence to support shared patient-provider decision making and a new role as a high-risk patient. My search for studies of available risk-management options revealed that the most commonly recommended approach for women with a ⩾20% lifetime breast cancer risk, intensive screening including annual mammography and/or magnetic resonance imaging beginning at age 25-40 years, was supported only by cancer-detection statistics, with almost no evidence on patient-centered outcomes-mortality, physical and psychological morbidity, or quality of life-compared with standard screening or a surgical alternative, bilateral risk-reducing mastectomy. In this commentary, I explore parallels between the use of the intensive screening protocol and another longstanding women's health recommendation based on limited evidence, the use of hormone therapy (HT) for postmenopausal chronic disease prevention, which was sharply curtailed after the publication of the groundbreaking Women's Health Initiative trial in 2002.
View Article and Find Full Text PDFBackground: LIGHT (oLaparib In HRD-Grouped Tumor types; NCT02983799) prospectively evaluated olaparib treatment in patients with platinum-sensitive relapsed ovarian cancer (PSROC) assigned to cohorts by known BRCA mutation (BRCAm) and homologous recombination deficiency (HRD) status: germline BRCAm (gBRCAm), somatic BRCAm (sBRCAm), HRD-positive non-BRCAm, and HRD-negative. At the primary analysis, olaparib treatment demonstrated activity across all cohorts, with greatest efficacy in terms of objective response rate and progression-free survival observed in the g/sBRCAm cohorts. The authors report final overall survival (OS).
View Article and Find Full Text PDFFuture Oncol
January 2025
Department of Oncology, University of Turin, Division of Medical Oncology, Ordine Mauriziano Hospital, Turin, Italy.
Aims: To explore physician-reported knowledge, use, and perceptions of genetic testing for advanced ovarian cancer management.
Materials & Methods: Gynecology/oncology specialists ( = 390) in the US, Europe, Canada, Japan, and Australia completed an online survey spanning March 2021 to April 2022.
Results: Physician-reported breast cancer gene mutation (BRCAm) testing rates increased over the 2 years before the survey; most patients underwent testing in the preceding 6 months.
Breast Cancer Res
January 2025
Servicio de Oncología, Centro Universitario Contra el Cáncer (CUCC), Hospital Universitario "Dr. José Eleuterio González", Universidad Autónoma de Nuevo León, 66451, Monterrey, Nuevo León, México.
Background: Hereditary predisposition to breast and ovarian cancer syndrome (HBOC) is a pathological condition with increased cancer risk, including breast (BC), ovarian cancer (OC), and others. HBOC pathogenesis is caused mainly by germline pathogenic variants (GPV) in BRCA1 and BRCA2 genes. However, other relevant genes are related to this syndrome diagnosis, prognosis, and treatment, including TP53, PALB2, CHEK2, ATM, etc.
View Article and Find Full Text PDFBiomed Rep
March 2025
Department of Clinical Therapeutics, Alexandra Hospital, National and Kapodistrian University of Athens, 11528 Athens, Greece.
The advent of personalized and precision medicine has revolutionized oncology and treatment of gynecological cancer. These innovative approaches tailor treatments to individual patient profiles beyond genetic markers considering environmental and lifestyle factors, thereby optimizing therapeutic efficacy and minimizing adverse effects. Precision medicine uses advanced genomic technologies such as next-generation sequencing to perform comprehensive tumor profiling.
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