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Background: Patients with unilateral breast cancer carrying pathogenic variants in have the option to undergo contralateral prophylactic mastectomy (CPM). However, differences in CPM use and survival outcomes following CPM are poorly understood in this high-risk population, in part due to a lack of data from contemporary clinical cohorts. The objective of this study was to evaluate post-CPM overall survival (OS) and related racial/ethnic differences in a contemporary clinical cohort.
Methods: We retrospectively reviewed the medical records of women with a personal history of unilateral breast cancer carrying pathogenic variants in who were diagnosed between 1996 and 2012. Genetic test results, self-reported demographic characteristics, and clinical factors were abstracted from electronic medical records.
Results: Of 144 BRCA-positive patients, the majority were White (79.2%, = 114). Overall, 56.1% ( = 81) of all carriers chose to undergo CPM, with no racial/ethnic difference in CPM election ( = 0.78). Of 81 patients who underwent CPM, there is strong evidence of a difference in survival between the racial/ethnic groups, with White patients having the highest OS compared to non-White patients ( = 0.001). Of the 63 patients who did not undergo CPM, there is no racial/ethnic difference in overall survival ( = 0.61). In multivariable cox regression, adjusted for demographic and clinical characteristics, OS was significantly lower among non-Whites than in Whites (HR = 0.39, = 0.04).
Conclusions: Evaluation of a contemporary clinical cohort of BRCA-positive women with unilateral breast cancer showed no racial/ethnic difference in CPM use, but there was a significant difference in post-CPM overall survival.
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http://dx.doi.org/10.1155/2022/1447545 | DOI Listing |
Genet Med
September 2025
Division of Genetics and Epidemiology, The Institute of Cancer Research, London, UK; The Royal Marsden NHS Foundation Trust, Fulham Road, London, UK. Electronic address:
Purpose: Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC) is a rare cancer susceptibility syndrome exclusively attributable to pathogenic variants in FH (HGNC:3700). This paper quantitatively weights the phenotypic context (PP4/PS4) of such very rare variants in FH.
Methods: We collated clinical diagnostic testing data on germline FH variants from 387 individuals with HLRCC and 1,780 individuals with renal cancer, and compared the frequency of 'very rare' variants in each phenotypic cohort against 562,295 population controls.
Zhong Nan Da Xue Xue Bao Yi Xue Ban
May 2025
Department of Nephropathy and Rheumatology, Third Xiangya Hospital, Central South University, Changsha 410013.
Dent disease is a rare X-linked recessive inherited renal tubular disorder characterized by low molecular weight proteinuria (LMWP), hypercalciuria, nephrocalcinosis, and other clinical features, and can lead to progressive renal failure. It is primarily caused by mutations in the gene. This article reports the case of a 10-year-old male patient of Chinese descent who was incidentally found to have asymptomatic proteinuria during a routine health examination.
View Article and Find Full Text PDFMol Plant Pathol
September 2025
State Key Laboratory of Rice Biology, Institute of Biotechnology, Zhejiang University, Hangzhou, China.
Superinfection exclusion (SIE) is a finely tuned virus-virus interaction mechanism closely linked to the viral infection cycle. However, the mechanistic basis of SIE remains incompletely understood in plant viruses, particularly among negative-sense, single-stranded RNA viruses. In this study, we first describe the development of an efficient reverse genetics system for the plant nucleorhabdovirus Physostegia chlorotic mottle virus (PhCMoV) by codon optimisation of the large polymerase coding sequence.
View Article and Find Full Text PDFKorean J Clin Oncol
August 2025
Department of Surgery, Soonchunhyang University Bucheon Hospital, Soonchunhyang University College of Medicine, Bucheon, Korea.
Purpose: Multiple primary tumors arising in the same individual pose challenges for precision oncology, particularly in the context of hereditary cancer syndromes such as Lynch syndrome. While these tumors may originate from a shared germline predisposition, it remains unclear whether they also share somatic alterations that could be therapeutically exploited. This study aimed to characterize the extent of somatic genomic overlap between synchronous or metachronous gastric and colorectal cancers within young Korean patients.
View Article and Find Full Text PDFSeizure
August 2025
Neurophysiology Department, Local Health Unit of Santo Antonio, E.P.E, Largo Professor Abel Salazar 4099-001 Porto, Portugal. Electronic address:
None.
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