Practice guidelines for BRCA1/2 tumour testing in ovarian cancer
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DOI: 10.1136/jmedgenet-2021-108238
Abstract: The purpose of this document is to provide pre-analytical, analytical and post-analytical considerations and recommendations to Canadian clinical laboratories developing, validating and offering next-generation sequencing (NGS)-based BRCA1 and BRCA2 (BRCA1/2) tumour testing in ovarian cancers.… read more here.
Keywords: testing ovarian; practice guidelines; document; brca1 tumour ... See more keywords
Systems approach to enhance Lynch syndrome diagnosis through tumour testing
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DOI: 10.1136/jmg-2022-108770
Abstract: Background Guidelines recommend universal mismatch repair (MMR) tumour testing of colorectal adenocarcinomas (CRCs) to screen for Lynch syndrome (LS). However, its implementation remains disjointed and referral for genetic testing dismal, particularly among minorities. We aimed… read more here.
Keywords: original cohort; lynch syndrome; cohort; tumour testing ... See more keywords
Management of BRCA Tumour Testing in an Integrated Molecular Tumour Board Multidisciplinary Model
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DOI: 10.3389/fonc.2022.857515
Abstract: Tumour testing of the BRCA1/2 genes is routinely performed in patients with different cancer histological subtypes. To accurately identify patients with tumour-detected germline pathogenic variants (PVs) is a relevant issue currently under investigation. This study… read more here.
Keywords: germline; tumour board; molecular tumour; model ... See more keywords