Panaliti anyar anu diterbitkeun dina jurnal Cellular and Molecular Gastroenterology and Hepatology nunjukkeun yén mutasi gen anu disebut ATRX tiasa nyababkeun paningkatan résiko pankreatitis sareng kanker pankréas di awéwé. Panilitian ieu nandaan panimuan mimiti faktor résiko genetik spésifik pikeun kanker kanker pankreas.
The team used a preclinical model to examine the effect of ATRX mutations on the adult pancreas. They deleted the ATRX gene and then studied its effect on kanker pancreatic susceptibility. The team found that the deletion of the ATRX gene in women increased the susceptibility to pancreatitis-related pancreatic damage and accelerated the progression of pancreatic cancer. Pikeun lalaki, mutasi ATRX henteu ningkatkeun résiko karusakan pankreas, sareng saleresna ngalambatkeun perkembangan kanker pankreas.
The team ‘s preclinical results were compared with human samples from the International Cancer Genome Alliance database, which includes whole-genome sequence analysis of 729 patients. Tim panilitian mendakan yén 19% pasien nyandak mutasi dina panjang gén ATRX, kalebet daérah non-coding, anu 70% awéwé. Sanaos kaseueuran mutasi henteu sigana ngaganggu urutan protéin ATRX, mutasi anu diprediksi mangaruhan fungsi ATRX kajadian ampir sacara éksklusif di awéwé.
Élmuwan Lawson sareng profésor gaulna Dr. Chris Pin nyarios, "Kanker pankreas mangrupikeun panyakit anu ngancurkeun pisan anu sering didiagnosis dina tahap anu maju. Pasén biasana henteu ngaréspon therapies anu aya, sareng umur rata-rata penderita saatos diagnosis Diantos ti 6 bulan. "Pankreatitis mangrupikeun panyakit anu dicirikeun ku peradangan pankréas sareng salah sahiji faktor résiko anu paling penting pikeun ngembangkeun kanker pankreas. Sanaos panilitian langkung diperyogikeun, awéwé anu aya pankreatitis tiasa hiji dinten diidentifikasi minangka kelompok anu résiko tinggi, sareng mutasi gén ieu kedah diayak.
In a follow-up study, Dr. Pin will work with French researchers to study patient tumor samples in a new preclinical model. Their goal is to better understand the mechanism of ATRX mutations as a gender-specific risk factor. In order to develop better diagnosis and treatment methods for women carrying this mutation.