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Landscape of Multilocus Inherited Neoplasia Allele Syndrome in Mexican Population.
JCO Glob Oncol
January 2025
Servicio de Oncología, Centro Universitario Contra el Cáncer (CUCC), Hospital Universitario "Dr. José Eleuterio González," Universidad Autónoma de Nuevo León, Monterrey, México.
Purpose: Hereditary cancer syndromes (HCS) explain 5%-10% of all cancer cases. Patients with more than one germline pathogenic variant (GPV) result in a clinical syndrome known as multilocus inherited neoplasia allele syndrome (MINAS). In recent years, an increasing number of MINAS cases have been reported.
View Article and Find Full Text PDFIdentification of the novel BRCA1 c.2463_2464delTA mutation in two high grade serous ovarian cancer sisters and potential dosage effects implications: a case report.
Mol Biol Rep
January 2025
Department of Clinical Pathology, San Giovanni Addolorata Hospital, Rome, Italy.
Background: Ovarian Cancer is one of the leading causes of cancer death among women worldwide and the therapeutic landscape to treat it is constantly evolving. One of the major points of decision for the treatment choice is the presence of some genomic alterations that could confer sensitivity to the new available therapies including inhibitors of poly (ADP-ribose) polymerase (PARPi) with BRCA1 and 2 genes playing the most important role.
Methods And Results: We performed the search for any somatic and/or germline alteration in patient's samples by next generation sequencing (NGS).
Risk reducing mastectomy in Norwegian BRCA1/2 carriers.
Eur J Surg Oncol
December 2024
Department of Medical Genetics, Oslo University Hospital, Oslo, Norway.
Background: Risk reducing mastectomy (RRM) is an option for women with pathogenic germline variants in BRCA1 or BRCA2 (BRCA1/2). This study investigates and compares RRM-uptake among Norwegian BRCA1/2 carriers from 2008 to 2021, temporal trends, and incidence of breast cancer (BC) after surgery.
Methods: BRCA1/2 carriers without prior breast or ovarian cancer, tested at Oslo University Hospital between January 1st 2008 and December 31st 2021 were included in the study.
Frequency of somatic and germline variants of predisposition genes in young Chinese women with breast cancer.
Breast Cancer Res Treat
January 2025
Department of Breast Surgery, Fujian Medical University Union Hospital, Fuzhou, 350001, Fujian , China.
Purpose: Age stratification influences the clinicopathological features and survival outcomes of breast cancer. We aimed to understand the effect of age on gene variants in young Chinese women with breast cancer compared with those from The Cancer Genome Atlas (TCGA).
Methods: Enrolled patients ≤ 40 years old (N = 370) underwent germline or somatic genetic testing using a 32-gene hereditary cancer panel at Fujian Union Hospital.
Barriers to early detection: Insurance denials for breast MRI screening in women with germline BRCA1/2 mutations.
Gynecol Oncol
January 2025
New York University Langone Health, Long Island, Department of Obstetrics and Gynecology, Division of Gynecologic Oncology, Mineola, NY, United States of America. Electronic address:
Objectives: Women with germline BRCA1/2 pathogenic variants (gBRCA1/2) are recommended to undergo annual breast MRI and mammography. Our objective was to describe the frequency of insurance denials for annual breast MRIs in women with gBRCA1/2 and determine denial trends.
Methods: Women with gBRCA1/2 following in a high-risk breast cancer clinic with breast MRIs ordered from 2020 to 2021 were identified and cross-referenced with a database of insurance denials.
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