Prevalence of deleterious germline variants in risk genes including BRCA1/2 in consecutive ovarian cancer patients (AGO-TR-1).
Philipp HarterJan HaukeFlorian HeitzAlexander ReussStefan KommossFrederik MarméAndré HeimbachKatharina PrieskeLisa RichtersAlexander BurgesGuido NeidhardtNikolaus de GregorioAhmed El-BalatFelix HilpertWerner MeierRainer KimmigKarin KastJalid SehouliKlaus BaumannChristian JackischTjoung-Won Park-SimonLars HankerSandra KröberJacobus PfistererHeidrun GevenslebenAndreas SchnelzerDimo DietrichTanja NeunhöfferMathias KrockenbergerSara Y BruckerPeter NürnbergHolger ThieleJanine AltmüllerJosefin LamlaGabriele ElserAndreas du BoisEric HahnenRita SchmutzlerPublished in: PloS one (2017)
26.4% of all patients harbor at least one deleterious variant in established risk genes. The threshold of 10% mutation rate which is accepted for reimbursement by health care providers in Germany was observed in all subgroups analyzed and neither age at primary diagnosis nor histo-type or family history sufficiently enough could identify a subgroup not eligible for genetic counselling and testing. Genetic testing should therefore be offered to every patient with invasive epithelial ovarian cancer and limiting testing to BRCA1/2 seems to be not sufficient.
Keyphrases
- genome wide
- healthcare
- end stage renal disease
- ejection fraction
- copy number
- newly diagnosed
- chronic kidney disease
- prognostic factors
- peritoneal dialysis
- risk factors
- breast cancer risk
- dna methylation
- case report
- genome wide identification
- bioinformatics analysis
- smoking cessation
- clinical trial
- dna repair
- gene expression
- dna damage
- social media
- oxidative stress
- hiv infected
- phase iii
- health information
- hiv testing