| People | Locations | Statistics |
|---|---|---|
| Naji, M. |
| |
| Motta, Antonella |
| |
| Aletan, Dirar |
| |
| Mohamed, Tarek |
| |
| Ertürk, Emre |
| |
| Taccardi, Nicola |
| |
| Kononenko, Denys |
| |
| Petrov, R. H. | Madrid |
|
| Alshaaer, Mazen | Brussels |
|
| Bih, L. |
| |
| Casati, R. |
| |
| Muller, Hermance |
| |
| Kočí, Jan | Prague |
|
| Šuljagić, Marija |
| |
| Kalteremidou, Kalliopi-Artemi | Brussels |
|
| Azam, Siraj |
| |
| Ospanova, Alyiya |
| |
| Blanpain, Bart |
| |
| Ali, M. A. |
| |
| Popa, V. |
| |
| Rančić, M. |
| |
| Ollier, Nadège |
| |
| Azevedo, Nuno Monteiro |
| |
| Landes, Michael |
| |
| Rignanese, Gian-Marco |
|
Hanif, Faisal
in Cooperation with on an Cooperation-Score of 37%
Topics
Publications (1/1 displayed)
Places of action
| Organizations | Location | People |
|---|
article
Prevalence of BRCA1 and BRCA2 germline variants in an unselected pancreatic cancer patient cohort in Pakistan
Abstract
<jats:title>Abstract</jats:title><jats:sec><jats:title>Background</jats:title><jats:p><jats:italic>BRCA1</jats:italic> and <jats:italic>BRCA2 (BRCA1/2)</jats:italic> are the most frequently investigated genes among Caucasian pancreatic cancer patients, whereas limited reports are available among Asians. We aimed to investigate the prevalence of <jats:italic>BRCA1/2</jats:italic> germline variants in Pakistani pancreatic cancer patients.</jats:p></jats:sec><jats:sec><jats:title>Methods</jats:title><jats:p>One hundred and fifty unselected and prospectively enrolled pancreatic cancer patients were comprehensively screened for <jats:italic>BRCA1/2</jats:italic> germline variants using denaturing high-performance liquid chromatography and high-resolution melting analyses, followed by DNA sequencing of the variant fragments. The novel variants were analyzed for their pathogenic effect using <jats:italic>in-silico</jats:italic> tools. Potentially functional variants were further screened in 200 cancer-free controls.</jats:p></jats:sec><jats:sec><jats:title>Results</jats:title><jats:p>Protein truncating variant was detected in <jats:italic>BRCA2</jats:italic> only, with a prevalence of 0.7% (1/150). A frameshift <jats:italic>BRCA2</jats:italic> variant (p.Asp946Ilefs*14) was identified in a 71-year-old male patient of Pathan ethnicity, with a family history of abdominal cancer. Additionally, we found a novel variant in <jats:italic>BRCA2</jats:italic> (p.Glu2650Gln), two previously reported variants in <jats:italic>BRCA1</jats:italic> (p.Thr293Ser) and <jats:italic>BRCA2</jats:italic> (p.Ile2296Leu) and a recurrent nonsense variant in <jats:italic>BRCA2</jats:italic> (p.Lys3326Ter). These variants were classified as variants of uncertain significance (VUS). It is noteworthy that none of these VUS carriers had a family history of pancreatic or other cancers.</jats:p></jats:sec><jats:sec><jats:title>Conclusions</jats:title><jats:p>In this first study, <jats:italic>BRCA1/2</jats:italic> pathogenic variant is identified with a low frequency in pancreatic cancer patients from Pakistan. Comprehensive multigene panel testing is recommended in the Pakistani pancreatic cancer patients to enhance genetic understanding in this population.</jats:p></jats:sec>