Faculty of Arts & Science, University of Toronto, Toronto, Canada.
Liver and Pancreatobiliary Diseases Research Center, Digestive Disease Research Institute, Shariati Hospital, Tehran University of Medical Sciences, Tehran, Iran.
Arch Iran Med. 2018 Jun 1;21(6):228-233.
Pancreatic cancer is the fourth most common cause of mortality due to cancer, globally. It has a poor prognosis and is usually diagnosed at later stages when tumor resection is not possible. Heritability for pancreatic cancer is relatively high and clinically significant.
A group of 24 pancreatic cancer patients with young age at onset, from a referral hospital in Tehran University of Medical Sciences were screened for mutations in 710 cancer relevant genes using next generation sequencing technology.
Two patients had pathogenic mutations in known pancreatic cancer susceptibility genes, BRCA1/2. Two other patients also had potentially pathogenic mutations in 2 novel candidate genes including PARP4 and EXO1.
BRCA1/2 genes are the most commonly mutated pancreatic cancer susceptibility genes that should be considered in all pancreatic cancer cases with young age at onset or a family history of cancer. PARP4 and EXO1 also are potential candidate genes for susceptibility to pancreatic cancer. Identifying the hereditary cases of pancreatic cancer will help to offer more targeted treatments to the patients and also to prevent cancer in family members who might be a mutation carrier.
在全球范围内，胰腺癌是第四大常见的癌症死亡原因。它预后不良，通常在肿瘤无法切除的晚期才被诊断出来。胰腺癌的遗传性相对较高，且具有临床意义。
我们从德黑兰医科大学附属医院的一组年轻起病的胰腺癌患者中筛选了 710 个与癌症相关的基因中的突变，使用下一代测序技术。
两名患者在已知的胰腺癌易感性基因 BRCA1/2 中存在致病性突变。另外两名患者在 2 个新的候选基因 PARP4 和 EXO1 中也存在潜在的致病性突变。
BRCA1/2 基因是最常见的突变胰腺癌易感性基因，应在所有年轻起病或有癌症家族史的胰腺癌病例中考虑。PARP4 和 EXO1 也是胰腺癌易感性的潜在候选基因。确定遗传性胰腺癌病例将有助于为患者提供更有针对性的治疗，并预防可能是突变携带者的家庭成员患癌。
