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A Boston programme biopsied and sequenced 71 patients with advanced pancreatic cancer fast enough to change treatment in 30%, finding a treatable alteration in half and an inherited one in almost one in five.
A biopsy protocol delivered time-sensitive whole-exome and RNA sequencing for patients with advanced pancreatic ductal adenocarcinoma. Therapeutically relevant genomic alterations were identified in 48% (34 of 71) and pathogenic or likely pathogenic germline alterations in 18% (13 of 71); 30% (21 of 71) had a change in management as a result. Twenty-six patients had germline and/or somatic DNA-damage repair alterations and five more had homologous recombination deficiency signatures without an identified cause. Two patients had oncogenic in-frame BRAF deletions, with the first clinical evidence that this alteration confers sensitivity to MAPK pathway inhibition. Tumour and stroma expression signatures with clinical relevance were identified.
Together with COMPASS it made sequencing at diagnosis of advanced disease a standard expectation, and it found the BRAF-deletion class that a hotspot test misses.
Shares Andrew J. Aguirre, Germline vs somatic mutations, Dana-Farber Brigham Cancer Center, BRCA1 / BRCA2 (HRD).
Shares Andrew J. Aguirre, Broad Institute of MIT and Harvard, Dana-Farber Brigham Cancer Center, RNA sequencing & expression profiling.
Shares Cancer Discovery, Whole-exome & whole-genome sequencing, BRCA1 / BRCA2 (HRD), Germline (hereditary) testing.
Shares Whole-exome & whole-genome sequencing, BRCA1 / BRCA2 (HRD), Germline (hereditary) testing, Metastatic pancreatic ductal adenocarcinoma.
Shares Double-strand break repair: HR versus end joining, Homologous recombination deficiency (HRD), Germline vs somatic mutations, BRCA1 / BRCA2 (HRD).
Shares Broad Institute of MIT and Harvard, Dana-Farber Brigham Cancer Center, Whole-exome & whole-genome sequencing.
Shares Cancer Discovery, RNA sequencing & expression profiling, Whole-exome & whole-genome sequencing, RAS / RAF / MEK / ERK (MAPK).
Shares Germline vs somatic mutations, BRCA1 / BRCA2 (HRD), Germline (hereditary) testing, Pancreatic ductal adenocarcinoma.