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Testing 1,824 women with triple-negative breast cancer regardless of family history found an inherited cancer-gene mutation in one in seven: BRCA1 in 8.5%, BRCA2 in 2.7% and other repair genes in 3.7%, which is why every TNBC patient is now offered germline testing.
1,824 TNBC patients unselected for family history of breast or ovarian cancer were recruited through 12 studies and germline DNA sequenced for 17 predisposition genes. Deleterious mutations were identified in 14.6%: 11.2% in BRCA1 (8.5%) and BRCA2 (2.7%), and 3.7% in 15 other genes, mostly homologous recombination genes including PALB2 (1.2%) and BARD1, RAD51D, RAD51C and BRIP1 (0.3% to 0.5%). Carriers were diagnosed younger (P less than .001) with higher-grade tumours (P .01).
This cohort underpins the guideline shift to germline BRCA1/2 testing for all TNBC patients regardless of age or family history, and it is the prevalence figure the corpus uses for germline BRCA1 in TNBC.
Shares Germline BRCA1/2 pathogenic variant (gBRCAm), Talazoparib, Germline BRCA mutation (gBRCA), Germline vs somatic mutations.
Shares Priyanka Sharma, Germline BRCA1/2 pathogenic variant (gBRCAm), Germline BRCA mutation (gBRCA), BRCA1 / BRCA2 (HRD).
Shares PALB2, Germline BRCA mutation (gBRCA), BRCA1 / BRCA2 (HRD), Germline (hereditary) testing.
Shares Germline BRCA1/2 pathogenic variant (gBRCAm), Germline BRCA mutation (gBRCA), BRCA1 / BRCA2 (HRD), Germline (hereditary) testing.
Shares PALB2, Germline BRCA mutation (gBRCA), BRCA1 / BRCA2 (HRD), Germline (hereditary) testing.
Shares Talazoparib, Olaparib, BRCA1 / BRCA2 (HRD), Germline (hereditary) testing.
Shares Germline vs somatic mutations, BRCA1 / BRCA2 (HRD), Germline (hereditary) testing, Triple-negative breast cancer (TNBC).