Poly(ADP-ribose) (PAR) polymerase 1 (PARP1) is activated by DNA single-strand breaks (SSB)
or at stalled replication forks to facilitate DNA repair. Inhibitors of PARP efficiently kill …

Background Our study aimed to establish ‘real-world’ performance and cost-effectiveness of
ovarian cancer (OC) surveillance in women with pathogenic germline BRCA1/2 variants …

Background and Aim Serrated polyposis syndrome (SPS) is now known to be the commonest
polyposis syndrome. Previous analyses for germline variants have shown no consistent …

Dermatosparaxis Ehlers–Danlos syndrome (or EDS VIIC), a rare autosomal recessive
connective tissue disorder, is characterized by extreme skin fragility, premature rupture of …

Age is a risk factor for dementia, and also for most cancers. Surprisingly, rates of cancer
appear to be lower in individuals with dementia and vice versa. Genetic mechanisms could …

Advances in sequencing technology have led to the introduction of panel testing in hereditary
breast and ovarian cancer. While direct-to-consumer testing services have become widely …

Background Lynch Syndrome (LS) is a cancer predisposition syndrome caused by constitutional
pathogenic variants in the mismatch repair (MMR) genes. To date, fragmentation of …

In the United Kingdom (UK), efforts to incorporate genome sequencing into clinical care were
significantly boosted by implementation of the 100,000 Genomes Project in 2014. The UK …

Infantile neuroaxonal dystrophy ( INAD ) is a rare autosomal recessive neurodegenerative
disorder caused by mutations in the phospholipase A2 group 6 (Pla2G6) gene. Affected …

Abstracts Page 1 hour versus 30.0 [17.0] l.hour with no lactulose, p=0.0078) but had no
effect on T1AC even after 36 hours treatment (0.74 [0.4]sversus 0.64 [0.28]s, p=0.72). …