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Quantifying evidence for phenotypic specificity (PP4) for syndromic phenotypes: Large-scale integration of rare germline FH variants from diagnostic laboratory testing for HLRCC (Hereditary Leiomyomatosis and Renal Cell Cancer) and renal cancer.
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.
Central nervous system tumors with BCOR internal tandem duplications: a systematic review of clinical, radiological, and pathological features in 69 cases.
J Pathol Transl Med
September 2025
Department of Pathology, Chonnam National University Hwasun Hospital, Chonnam National University Medical School, Hwasun, Korea.
Central nervous system tumors with BCL6 corepressor (BCOR) internal tandem duplications (ITDs) constitute a rare, recently characterized pediatric neoplasm with distinct molecular and histopathological features. To date, 69 cases have been documented in the literature, including our institutional case. These neoplasms predominantly occur in young children, with the cerebellum representing the most frequent anatomical location.
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Department of Gynaecology, Shandong Provincial Third Hospital, Shandong University, Jinan, Shandong, China.
Persistent high-risk human papillomavirus (HPV) infection is a leading cause of cervical cancer worldwide. While prophylactic vaccines exist, many women remain at risk due to prior exposure or limited access to vaccination. Current treatments focus on ablating visible lesions but often fail to clear the virus completely.
View Article and Find Full Text PDF[Sub-committee of Anesthesiology of Guangzhou Integrated Traditional Chinese and Western Medicine Society].
Nan Fang Yi Ke Da Xue Xue Bao
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Guangzhou Twelfth People's Hospital, Guangzhou 510700, China.
Objectives: To explore the efficacy of DSA-guided intrathecal drug delivery system combined with Acupoint Therapy for management of cancer pain and provide reference for its standardized clinical application. Methods and.
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Characterization of Early Viral Populations in Infants Acquiring HIV Through Perinatal and Breastmilk Transmission: A Review of what is Currently Known and the Gaps that Need to be Addressed to Guide Passive HIV Immunization of Breastfeeding Infants.
Curr HIV Res
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Vaccine and Infectious Disease Division, Fred Hutchinson Cancer Center, Seattle, WA.
Newborns represent only 1% of the population. Yet, HIV vertical transmissions represent 10% of all new infections globally, even though antiretroviral therapy (ART) has been shown to reduce the risk of vertical transmission to less than 2%. While vaccines still represent the most efficient and cost-effective intervention to eradicate new infections, HIV immunogens that can effectively elicit broad-spectrum protection are still at least a decade away.
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