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Among 150 men tested regardless of family history, the ones with an inherited repair fault were four times as likely to have a particular growth pattern on their pathology report.
One hundred and fifty consecutive unselected patients with recurrent or metastatic prostate cancer were offered germline genetic testing by a single oncologist using a clinical-grade 30-gene saliva assay. Pathogenic mutations were identified in 21 men, 14%: 9 in BRCA2, 3 in ATM, 3 in CHEK2 and 2 in BRCA1. There were no associations between germline mutation and age, tumour stage, Gleason sum or family history. Mutation-positive men had lower median PSA at diagnosis, 5.5 against 8.6 ng/mL, and distinctive pathological features: intraductal or ductal histology in 48% against 12%, and lymphovascular invasion in 52% against 14%. Forty-four per cent of the men with a positive germline test would not have been offered genetic screening under the National Comprehensive Cancer Network guidelines then in force.
It links a line on a UK pathology report to a question about a family. Intraductal carcinoma is a reportable item in the current dataset, and its presence is a practical prompt to check that germline testing has actually been offered rather than assumed.
Shares CHEK2, Germline BRCA1/2 pathogenic variant (gBRCAm), ATM, DNA damage response & homologous recombination.
Shares Germline BRCA1/2 pathogenic variant (gBRCAm), DNA damage response & homologous recombination, Germline BRCA mutation (gBRCA), Double-strand break repair: HR versus end joining.
Shares CHEK2, Germline BRCA1/2 pathogenic variant (gBRCAm), ATM, DNA damage response & homologous recombination.
Shares Intraductal carcinoma of the prostate (IDC-P), Germline BRCA mutation (gBRCA), Double-strand break repair: HR versus end joining, Homologous recombination deficiency (HRD).
Shares CHEK2, ATM, Double-strand break repair: HR versus end joining, Germline vs somatic mutations.
Shares CHEK2, ATM, Germline BRCA mutation (gBRCA), Double-strand break repair: HR versus end joining.
Shares Germline BRCA1/2 pathogenic variant (gBRCAm), ATM, Germline BRCA mutation (gBRCA), Germline vs somatic mutations.
Shares ATM, Germline BRCA mutation (gBRCA), Double-strand break repair: HR versus end joining, Homologous recombination deficiency (HRD).