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Comparing 79 men who inherited a BRCA fault with 1,940 who did not showed the carriers' cancers were higher grade, more often spread at diagnosis, and shortened life by years.
The tumour features and outcomes of 2,019 men with prostate cancer were analysed, 18 BRCA1 carriers, 61 BRCA2 carriers and 1,940 non-carriers. Prostate cancers in germline BRCA1 or BRCA2 carriers were more often Gleason 8 or higher, T3 or T4 stage, node-positive and metastatic at diagnosis. Cause-specific survival was significantly longer in non-carriers, 15.7 against 8.6 years, with a multivariable hazard ratio of 1.8. For localised disease at presentation, five-year cause-specific survival was 96% in non-carriers against 82% in carriers and five-year metastasis-free survival 93% against 77%. Subgroup analyses confirmed the poor outcomes in BRCA2 carriers, while the role of BRCA1 could not be defined because of the limited size of that subgroup.
It established that an inherited BRCA2 mutation changes the disease and not only the treatment options, which is why a carrier's localised disease is generally treated more intensively and watched more closely rather than put on surveillance.
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 Germline BRCA1/2 pathogenic variant (gBRCAm), DNA damage response & homologous recombination, Germline BRCA mutation (gBRCA), Double-strand break repair: HR versus end joining.
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 Germline BRCA mutation (gBRCA), Double-strand break repair: HR versus end joining, Homologous recombination deficiency (HRD), Germline vs somatic mutations.
Shares Germline BRCA1/2 pathogenic variant (gBRCAm), Germline BRCA mutation (gBRCA), Germline vs somatic mutations, BRCA1 / BRCA2 (HRD).
Shares Germline BRCA1/2 pathogenic variant (gBRCAm), Germline BRCA mutation (gBRCA), Germline vs somatic mutations, BRCA1 / BRCA2 (HRD).
Shares Germline BRCA mutation (gBRCA), Double-strand break repair: HR versus end joining, Homologous recombination deficiency (HRD), Germline vs somatic mutations.
Shares Germline BRCA1/2 pathogenic variant (gBRCAm), Germline BRCA mutation (gBRCA), BRCA1 / BRCA2 (HRD), Germline (hereditary) testing.