Abstract:1501 Background: The aim of this study is to assess the prevalence of known heritable germline mutations in unselected PDAC patients and to determine how well current guidelines for genetic testing identify mutation carriers. Methods: Consecutive, unselected patients with recently diagnosed PDAC from three centers were enrolled from May to December 2016 in an ongoing prospective study. A three-generation pedigree was obtained. Germline mutations in 12 genes associated with PDAC risk ( APC, ATM, BRCA1, BRCA2, … Show more
“…We further draw the conclusion that a family history in our data set does not appear to be an effective surrogate for predicting the utility of platinum-based therapy or significant enrichment for a BRCA1 status; however, we do recognize that other retrospective data sets suggest that the presence of a family history of cancer may be a surrogate for platinum sensitivity. [33][34][35] Our cohort of BRCA-patients had family histories notable for potentially BRCA-related cancers; however, their treatment outcomes ( Fig. 1A) and duration on treatment (Fig.…”
“…We further draw the conclusion that a family history in our data set does not appear to be an effective surrogate for predicting the utility of platinum-based therapy or significant enrichment for a BRCA1 status; however, we do recognize that other retrospective data sets suggest that the presence of a family history of cancer may be a surrogate for platinum sensitivity. [33][34][35] Our cohort of BRCA-patients had family histories notable for potentially BRCA-related cancers; however, their treatment outcomes ( Fig. 1A) and duration on treatment (Fig.…”
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