Scholarlink

Background <p>Pancreatic ductal adenocarcinoma (PDAC) is a leading cause of cancer-related deaths worldwide. Between 5% and 10% of PDACs are attributable to inherited genetic alterations, identification of which may enhance targeted screening and inform treatment decisions. Data on germline variants among Arab patients with PDAC are lacking.</p> Methods <p>This prospective study included adult patients with PDAC treated at King Hussein Cancer Center in Amman, Jordan. Patients underwent multigene panel (MGP) testing using either standard or investigational panels. Cascade family testing was offered to relatives of patients with positive results. Germline testing results were classified as benign (negative), pathogenic/likely pathogenic (P/LP) (positive) or variants of uncertain significance (VUS).</p> Results <p>A total of 211 patients, all of whom had PDAC as their first cancer diagnosis upon enrollment, were included in the analysis. The median age at diagnosis was 59 years, and 63.0% were males. In total, 22 (10.4%) patients had positive mutations; 14 (6.6%) as pathogenic/likely pathogenic (P/LP) variants, mostly in <i>BRCA2</i> (<i>n</i> = 8), while 8 others (3.8%) had increased risk allele in <i>APC</i>. Other variants identified included <i>ATM</i>, <i>CFTR</i>, <i>CHEK2</i>, <i>BRCA1</i>, and <i>MSH6</i>. Half (<i>n</i> = 11, 50.0%) of patients with P/LP variants or <i>APC</i> increased risk allele communicated results with their relatives; 18 (69.2%) of 26 relatives tested had positive results.</p> Conclusions <p>Our study underscores the relevance of PDAC germline genetic testing among the Arab population. Given its clinical implications for screening and management, universal testing should be advocated. Communicating test results with at-risk relatives, despite its importance, remains suboptimal and warrants further investigation.</p>

错误：搜索内容不能为空，请输入英文关键词
错误：关键词超出字数限制，请精简
高级检索

Germline genetic profiling utilizing multigene panel testing in Jordanian patients with pancreatic cancer: a comprehensive cancer center experience

  • 期刊论文

  • 出版模式：

    开放获取

  • 发表日期：

    2026年2月10日

查看全文
  • Hikmat Abdel-Razeq,
  • Yacob Saleh,
  • Hira Bani Hani,
  • Rashid Abdel-Razeq,
  • Issa Mohamad,
  • Baha Sharaf,
  • Faris Tamimi,
  • Hala Abu-Jaish,
  • Areej Al-Atary,
  • Anisa Aljabri,
  • Rahaf Alnajjar,
  • Mohammd Sammour,
  • Ameed Ghanem,
  • Rula Amarin,
  • Tala Awabdeh

摘要

Background

Pancreatic ductal adenocarcinoma (PDAC) is a leading cause of cancer-related deaths worldwide. Between 5% and 10% of PDACs are attributable to inherited genetic alterations, identification of which may enhance targeted screening and inform treatment decisions. Data on germline variants among Arab patients with PDAC are lacking.

Methods

This prospective study included adult patients with PDAC treated at King Hussein Cancer Center in Amman, Jordan. Patients underwent multigene panel (MGP) testing using either standard or investigational panels. Cascade family testing was offered to relatives of patients with positive results. Germline testing results were classified as benign (negative), pathogenic/likely pathogenic (P/LP) (positive) or variants of uncertain significance (VUS).

Results

A total of 211 patients, all of whom had PDAC as their first cancer diagnosis upon enrollment, were included in the analysis. The median age at diagnosis was 59 years, and 63.0% were males. In total, 22 (10.4%) patients had positive mutations; 14 (6.6%) as pathogenic/likely pathogenic (P/LP) variants, mostly in BRCA2 (n = 8), while 8 others (3.8%) had increased risk allele in APC. Other variants identified included ATM, CFTR, CHEK2, BRCA1, and MSH6. Half (n = 11, 50.0%) of patients with P/LP variants or APC increased risk allele communicated results with their relatives; 18 (69.2%) of 26 relatives tested had positive results.

Conclusions

Our study underscores the relevance of PDAC germline genetic testing among the Arab population. Given its clinical implications for screening and management, universal testing should be advocated. Communicating test results with at-risk relatives, despite its importance, remains suboptimal and warrants further investigation.