BACKGROUNDPorcine Sapelovirus (PSV) infection has been confirmed in pigs worldwide, mostly asymptomatic, but in some cases, it can lead to significant issues in the gastrointestinal, respiratory, neurological, or reproductive systems. PSV is considered an emerging pathogen of porcine species. Recombinase polymerase amplification (RPA) is a simple and fast isothermal technique that uses three enzymes for amplification without the use of any sophisticated equipment.METHODS AND RESULTSThe reverse transcription recombinase polymerase amplification (RT-RPA) assay was developed and optimized for field based detection of PSV. The assay was developed by targeting 5´UTR region of PSV genome and optimized for reaction time, temperature, primer and MgOAc concentration. The analytical sensitivity and specificity of assay was determined. The assay was evaluated on 85 porcine faecal samples collected from field. In addition to conventional format, this assay was also optimized for visual dye-based detection format and lateral flow strips based detection (in combination with probe). The developed assay works at constant temperature of 35 °C for 20 min with forward primer concentration 20pm, reverse primer concentration 10pm and MgOAc concentration of 14mM. This assay is highly sensitive and detects up to 28 copies of viral nucleic acid both in the conventional as well as in fluorescent dye based detection format. Using the newly developed assay 21 samples out of 85 samples were found positive, showing positivity rate of 24.7%. The positivity rate of RT-RPA assay corroborated with the gold standard RT-PCR test.CONCLUSIONSThis study presented the development of an RT-RPA isothermal assay for rapid and accurate detection of PSV. The assay is highly sensitive, specific, works at a low and constant temperature, does not require any high-end instrument and can be a potential diagnostics tool for pen-side testing of PSV in the field conditions. The newly developed RT-RPA assay could successfully detect PSV circulating in swine population of Haryana, India. This is a first report of this kind from the region.

01 Dec 2024·Breast Cancer Research and Treatment

Phenotypes of carriers of two mutated alleles in major cancer susceptibility genes

Article

Author: Koskinen, Lotta ; Friedman, Eitan ; Rabina, Daniel ; Laitman, Yael ; Bernstein-Molho, Rinal ; Koskenvuo, Juha ; Niskakoski, Anni

AbstractPurposeWhile cancer phenotypes in carriers of a single mutant allele in most major cancer susceptibility genes are well-established, there is a paucity of data on the phenotype of carriers of two pathogenic variants—double heterozygotes (DH) or homozygous carriers. Here, we describe the phenotype of carriers of homozygous and DH pathogenic sequence variants (PSVs) in major cancer susceptibility genes.MethodsIndividuals referred for multigene panel testing at Blueprint Genetics laboratory were included. Ethically approved comparison of cancer type and age at diagnosis between DH, homozygous, and single PSV carriers was performed per gene.ResultsOf 6,685 eligible participants, 928 (13.9%) were single heterozygous PSV carriers, 6 (0.09%) were homozygous PSV carriers, and 17 (0.25%) were DH PSV carriers. Mean age at diagnosis of any cancer among single PSV age was 46.8 ± 14.9 years and among DH PSV carriers 37.6 ± 13.0 years (P < 0.0001). Notably, age at diagnosis for breast cancer among single BRCA1 PSV carriers (n = 59) was 43.8 ± 8.7 years (p = 0.7606), among single BRCA2 PSV carriers (n = 52)—47.9 ± 13.0 years (p = 0.2274) compared with 42.3 ± 13.0 years among DH PSV carriers (n = 10- 9 of whom were carriers of either BRCA1 or BRCA2).ConclusionDH for PSV in two cancer susceptibility genes is a rare event, and the mean age at cancer diagnosis is younger in DH PSV carriers compared with single PSV carriers.

01 Dec 2024·Clinical Imaging

Clinical experience on the limited role of ultrasound for breast cancer screening in BRCA1 and BRCA2 mutations carriers aged 30–39 years

Article

Author: Sorin, Vera ; Faermann, Renata ; Sklair-Levy, Miri ; Friedman, Eitan ; Bufman, Hila ; Barash, Yiftach ; Lahat, Nora Balint ; Bernstein-Molho, Rinat

PURPOSEIn BRCA germline pathogenic sequence variants (PSV) carriers aged 30-39 years imaging is recommended at six-month intervals. The European society for medical oncology recommendation of the use of 6-monthly MRI six-monthly MRI screening is being considered at our institution, particularly for younger carriers under the age of 35, although it is not mandatory. If 6-monthly MRI is unavailable, annual MRI may be supplemented by ultrasound (with or without mammography). The aim of this study was to evaluate the utility of ultrasound screening added to mammography, as a 6-month supplement to annual MRI in BRCA PSV carriers aged 30-39 years.MATERIALS AND METHODSThis IRB approved retrospective study included BRCA PSV carriers aged 30-39 years, who underwent breast cancer screening at our institution between January 2015 and March 2023. Participants were divided into two groups, those who had supplemental whole-breast US and mammography at six months and underwent screening before March 2019, and those who had only mammography without supplemental US and enrolled in screening after March 2019. Patient characteristics, cancer detection rates and cancer characteristics were compared between the two groups.RESULTSOverall, 200 asymptomatic BRCA1/2 PSV carriers undergoing screening in our institution were included in the study. Mean age was 35.7 ± 3.5 years, and mean follow-up time was 37.4 ± 38.0 months. There were 118 (59 %) women screened with supplemental US, and 82 (41 %) women without. Eight cancers were diagnosed during the study period, four in women with supplemental US and four in women without. The sensitivity of whole-breast screening US was 25 % (1/4), specificity 85.7 % (222/259), PPV 2.6 % (1/38), and NPV 98.7 % (222/225). Of the four cancers detected in women screened with supplemental US, one was diagnosed by whole-breast US, two by MRI, and one by mammography. Of eight cancers included in this study, two were not detectable by targeted second-look US. All eight cancers were detectable by MRI.CONCLUSIONThe addition of whole-breast ultrasound to mammography and MRI screening in BRCA PSV carriers aged 30-39 years offered limited incremental benefit. MRI with 6 months supplemental mammography without US detected all cancer cases.

100 Deals associated with AdAPT-PSV(EpicentRx)

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Indication	Highest Phase	Country/Location	Organization	Date
Neoplasms	Phase 1	US	EpicentRx, Inc.	28 Jan 2022

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