ORCID Profile
0000-0002-4546-7080
Current Organisations
Kyushu University
,
Instituto Argentino de Oceanografía
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Publisher: Cold Spring Harbor Laboratory
Date: 16-12-2019
DOI: 10.1101/2019.12.16.877084
Abstract: Colorectal cancer (CRC) has a large hereditary component, which is only partially explained by known genetic causes. Recently, variants in ribosomal protein S20 ( RPS20 , [OMIM: 603682]) were identified in a family with familial CRC type X and in a CRC cancer case-control screen. This study describes a novel splice donor variant in RPS20 , NM_001023.3:c.177+1G A. It segregates with CRC [OMIM: 114500] and polyposis [HP: 0200063] within the proband’s family. Reverse transcription-polymerase chain reaction (RT-PCR) confirms the variant results in two aberrantly-spliced transcripts that are absent in controls. The location of the novel RPS20 variant is near two previously-reported truncating RPS20 variants associated with CRC. DNA from colon adenocarcinoma showed no evidence of loss-of-heterozygosity, supporting a haploinsufficiency or dominant negative disease mechanism. These findings support designation of RPS20 as a CRC predisposition gene, and expand the phenotypic spectrum of RPS20 truncating variants to include polyposis.
Publisher: Cold Spring Harbor Laboratory
Date: 28-09-2017
DOI: 10.1101/195537
Abstract: Genes associated with hereditary breast and ovarian cancer (HBOC) and colorectal cancer (CRC) susceptibility have been shown to play a role in pancreatic cancer susceptibility. Germline genetic testing of pancreatic cancer cases could be beneficial for at-risk relatives with pathogenic variants in established HBOC and CRC genes, but it is unclear what proportion of pancreatic cancer cases harbor pathogenic variants in these genes. 66 pancreatic cancer cases, unselected for family history and diagnosed at the Huntsman Cancer Hospital (HCH), were sequenced on a custom 34-gene panel including known HBOC and CRC genes. A second set of 156 unselected HCH pancreatic cancer cases were sequenced on an expanded 59-gene panel (n=95) or with a custom 14-gene clinical panel (n=61). Sequencing data from both sets of pancreatic cancer cases, the pancreatic cancer cases of the Cancer Genome Atlas (TCGA), and an unselected pancreatic cancer screen from the Mayo Clinic were combined in a meta-analysis to estimate the proportion of carriers with pathogenic and variants of uncertain significance. Approximately 8.9% of unselected pancreatic cancer cases at the HCH carried a variant with potential HBOC or CRC screening recommendations. A meta-analysis of unselected pancreatic cancer cases revealed that approximately 10.5% carry a pathogenic variant or HiP-VUS. With the inclusion of both HBOC and CRC susceptibility genes in a panel test, unselected pancreatic cancer cases have a high enough percentage of carriers to rationalize genetic testing for identification of variants that could be further used in cascade testing of healthy relatives to increase HBOC and CRC surveillance measures.
Publisher: Oxford University Press (OUP)
Date: 07-04-2023
Abstract: This paper aims to guide the stakeholder engagement process related to plastic pollution research in marine environments. We draw on advice identified during an online workshop (Ocean Plastic Workshop 2022) organized by Early Career Ocean Professionals (ECOPs) from 11 countries, held in April 2022. International experts and workshop participants discussed their experiences in the collaborative development and implementation of ocean plastic pollution projects held worldwide, guided by three main questions: (i) What is the role of scientists in a multi-stakeholder project? (ii) How should scientists communicate with other stakeholders? (iii) Which stakeholders are missing in collaborative projects, and why are they missing? This multidisciplinary, co-learning approach highlights the value of stakeholder engagement for ocean plastic projects with an end goal to identify and implement ocean plastic solutions via innovative technologies, informing policy, community engagement, or a combination of all three approaches. The target outcomes of the workshop described in this paper include the identification of transdisciplinary (academic-stakeholder) engagement frameworks and specific suggestions that can serve as guidelines for the development of future plastic pollution projects.
No related grants have been discovered for Deborah Neklason.