Deleterious germline mutations common in sporadic pancreatic cancer
medwireNews: Deleterious germline mutations are common in patients with pancreatic ductal adenocarcinoma who do not have a family history of the disease, research suggests.
As published in the Journal of Clinical Oncology, 33 (3.9%) of 854 patients tested positive for one of 32 germline mutations, 31 (3.5%) of whom had a mutation in a known familial pancreatic cancer susceptibility gene, such as BRCA1/2 or PALB2.
But just three of these 33 patients reported having a family history of the disease, say Michael Goggins, from Johns Hopkins Medical Institutions in Baltimore, Maryland, USA, and co-authors.
“These deleterious pancreatic cancer susceptibility gene mutations, some of which are therapeutically targetable, will be missed if current family history guidelines are the main criteria used to determine the appropriateness of gene testing,” they observe.
The investigators therefore suggest: “Routine gene testing of patients with newly diagnosed pancreatic cancer and their families may yield significant clinical benefits.”
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