jmg.bmj

Founder derivative chromosome causing a recessive-like recurrent disorder: der(17)-associated 19p13.3 duplication in the Upper Tigris Basin

Background This study investigates the genotype-phenotype correlation associated with a recurrent der(17) rearrangement combining a 19p13.3 duplication and a 17q25.3 deletion and evaluates whether the ...
jmg.bmj

UK consensus recommendations for onward testing for Lynch syndrome in patients with deficient mismatch repair (dMMR) non-colorectal/non-endometrial cancers

Background Tumour testing for microsatellite instability (MSI) or mismatch repair deficiency (dMMR) is used to screen for Lynch syndrome (LS) and as a biomarker for response to immune checkpoint ...
jmg.bmj

Refinement of the UKCGG/CanVIG framework for triage of putative germline variants identified via tumour and ctDNA sequencing: maximising clinical utility and harmonising gene ...

5 St George’s University Hospitals NHS Foundation Trust, London, UK Variants of possible constitutional origin are frequently identified during analysis of tumour-derived DNA. Building on the European ...
jmg.bmj

Somatic panel testing reveals no common alternative oncogenic driver in BRCA1/2-mutant high-grade serous ovarian cancer with discordant low genomic instability score

High-grade serous ovarian cancer (HGSOC) harbouring a germline pathogenic BRCA1/2 variant almost universally exhibits a concordantly high genomic instability score (GIS) on tumour mutational scar ...