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Panel testing of 10,901 women with triple-negative breast cancer pinned down which inherited genes raise the risk of this particular subtype: BARD1, BRCA1, BRCA2, PALB2 and RAD51D carry high risk, and BRIP1, RAD51C and TP53 moderate risk.
Multigene panel testing for 21 genes in 8,753 TNBC patients by a clinical laboratory and 17 genes in 2,148 patients from the Triple Negative Breast Cancer Consortium was compared with reference controls. Germline pathogenic variants in BARD1, BRCA1, BRCA2, PALB2 and RAD51D were associated with high risk of TNBC (odds ratio above 5.0) and more than 20% lifetime breast cancer risk among Caucasians; BRIP1, RAD51C and TP53 with moderate risk (odds ratio above 2). Similar trends were observed in the African American population. Pathogenic variants in these genes were detected in 12.0% of participants (3.7% outside BRCA1/2).
It defines the gene list a TNBC germline panel should report on and shows the same genes apply in African American women, the population with the highest TNBC incidence.
Shares PALB2, Germline BRCA mutation (gBRCA), BRCA1 / BRCA2 (HRD), TP53.
Shares PALB2, Germline BRCA mutation (gBRCA), BRCA1 / BRCA2 (HRD), Germline (hereditary) testing.
Shares Variant of uncertain significance (VUS), Germline BRCA mutation (gBRCA), BRCA1 / BRCA2 (HRD), Germline (hereditary) testing.
Shares Germline BRCA mutation (gBRCA), BRCA1 / BRCA2 (HRD), Germline (hereditary) testing, Triple-negative breast cancer (TNBC).
Shares JNCI: Journal of the National Cancer Institute, BRCA1 / BRCA2 (HRD), Germline (hereditary) testing, Triple-negative breast cancer (TNBC).
Shares Germline BRCA mutation (gBRCA), BRCA1 / BRCA2 (HRD), Germline (hereditary) testing, Triple-negative breast cancer (TNBC).
Shares RAD51C, PALB2, BRCA1 / BRCA2 (HRD), Triple-negative breast cancer (TNBC).