ESMO Open: Incidence of pathogenic BRCA1/2 embryoline mutations in pancreatic cancer patients

Embryonic BRCA1/2 pathogenic mutations (gBRCApv) increase the risk of pancreatic cancer and predict reactions to platinum drugs and polysaccharide polymerase (PARP) inhibitors.
data on the incidence of gBRCApv in patients with global pancreatic catheter adenocarcinoma (PDAC) are scarce and have significant geographical heterogeneity.
study aims to analyze the rate of gBRCApv in Italian patients.
pancreatic cancer patients of any age, gBRCApv screening at the Italian Oncology Centre within 3 months of diagnosis, with no choice.
this analysis, patients with family histories of breast, ovarian, pancreatic and prostate cancers are thought to be possible associated with BRCA.
June 2015-May 2020, a total of 939 patients were tested at 14 centres in Italy, of whom 492 (52 per cent) were men, the median age was 62 (28-87), 569 (61 per cent) had metastasis and 273 (29 per cent) had a potential BRCA-related cancer family history.
76 patients were gBRCA1-2pv positive (8.1%; metastasis 9.1%, non-metastasis 6.4%).
gBRCA2/gBRCA1 ratio is 5.4:1.
patients with gBRCApv were younger (59 vs 62, P-0.01) than those who were wild.
among patients under 40 years of age, the gBRCApv positive rate was 17.1%, 10.4% among 41-50 years old, 9.2% among 51-60 years old, 6.7% in 61-70 years of age, and 6.2% among patients over 70 years of age.
845 patients under the age of 74, the gBRCApv frequency was 9%.
patients with a family history of vs non-potential BRCA-related tumors had mutation rates of 14% vs 6%, respectively.
, the rate of gBRCApv was higher than expected in Italian PDAC patients.
based on this result, Peretti and others recommend that all PDAC patients under the age of 74 should be screened for gBRCApv regardless of their family history and stations.