Complete Pathological Response to Platinum-Based Neoadjuvant Chemotherapy in BRCA2-Associated Locally Advanced Pancreatic Cancer: A Case Report and Literature Review.

Pancreatic ductal adenocarcinoma (PDAC) is a lethal malignant disease and is considered the fourth leading cause of death among cancer patients in the United States. Mutations in the BRCA gene, which is a DNA repair gene, increase the risk of PDAC, and among all patients with PDAC, about 8%-10% have a BRCA2 mutation. The finding of gene mutations is associated with a better response to platinum-based chemotherapy. Here, we present a case of a 59-year-old male with a BRCA2 gene mutation who was diagnosed with locally advanced pancreatic cancer and had achieved a complete pathological response to the FOLFIRINOX (leucovorin calcium, fluorouracil, irinotecan hydrochloride, and oxaliplatin) regimen and Whipple procedure. We also present our literature findings on response types in BRCA2 PDAC patients, as well as consensus on the use of different therapies. The use of platinum-based chemotherapy with BRCA2 is highly recommended as the first-line treatment. Most PDAC patients remain untested for BRCA2 mutation even though their genetic status influences the selection of drug regimens. Thus, we recommend genetic testing for everyone with PDAC.

SARS-CoV-2 spike gene Sanger sequencing methodology to identify variants of concern.

The global demand for rapid identification of circulating SARS-CoV-2 variants of concern has led to a shortage of commercial kits. Therefore, this study aimed to develop and validate a rapid, cost-efficient genome sequencing protocol to identify circulating SARS-CoV-2 (variants of concern). Sets of primers flanking the SARS-CoV-2 spike gene were designed, verified and then validated using 282 nasopharyngeal positive samples for SARS-CoV-2. Protocol specificity was confirmed by comparing these results with SARS-CoV-2 whole-genome sequencing of the same samples. Out of 282 samples, 123 contained the alpha variant, 78 beta and 13 delta, which were indicted using in-house primers and next-generation sequencing; the numbers of variants found were 100% identical to the reference genome. This protocol is easily adaptable for detection of emerging variants during the pandemic.