Abstract 154P
Background
The Australian Pancreatic Screening study offers endoscopic ultrasound surveillance for individuals at increased risk of developing pancreatic cancer. Given 5-10% of pancreatic cancers are linked to genetic predisposition, all participants are required to undergo genetic counselling. We report on the genetic characteristics of this initial cohort from our institution.
Methods
This is a multicentre, prospective cohort study. Individuals with 2 or more family members with pancreatic cancer (including one of first-degree association) and/or those with a known genetic syndrome were defined as high-risk and eligible for study entry. Subjects aged between 40 and 80 years (or 10 years younger than the relative with pancreatic cancer) were included. The study was approved by the Austin Health Human Research Ethics Committee and the first participant consented in July 2013. Data was collected through participant completed questionnaires and review of medical records. All participants were seen by a Familial Cancer Clinic. Those with an indication for further genetic testing were offered gene panel tests. Indications that there may be an inherited predisposition to pancreatic cancer includes; a family history of breast and ovarian cancer, bowel cancer, melanoma, and chronic pancreatitis.
Results
121 participants were recruited from 96 families. In 12 out of 96 families there was a previously known high-risk germline mutation (6 BRCA2, 3 CDKN2A, 2 PALB2 and 1 STK11). 12 out of 84 families with no known mutation were offered genetic testing, either clinic or self-funded and 8 proceeded. Germline pathogenic mutations (Class 4 or 5) were detected in 3/8 families (37.5%), making the overall pick-up rate 3/84 (3.6%). Two families had a BRCA2 mutation and the other a CDKN2A mutation. In one family, where a pathogenic BRCA2 gene mutation was identified, cascade testing identified a further 3 relatives who carried the BRCA2 mutation. The CDKN2A carrier had a significant personal and family history of cutaneous melanoma. 1 participant had a PALB2 variant of uncertain significance.
Conclusions
In an enriched population, based on pedigree and increased genetic susceptibility, the rate of germ line mutations was high. Gene panels should be considered in selected patients undergoing high risk screening.
Clinical trial identification
Editorial acknowledgement
Legal entity responsible for the study
The authors.
Funding
National Health and Medical Research Council.
Disclosure
All authors have declared no conflicts of interest.
Resources from the same session
412P - The evaluation of chromosomal changes in patients with osteosarcoma
Presenter: Nargiza Karimova
Session: Poster display session
Resources:
Abstract
413P - The state of molecular biological markers in osteosarcoma
Presenter: Djamilya Polatova
Session: Poster display session
Resources:
Abstract
414P - Clinical profile of gastrointestinal stromal tumour in Yangon General Hospital
Presenter: Khin Mu
Session: Poster display session
Resources:
Abstract
415P - Adult soft tissue myoepithelial carcinoma: Treatment outcomes and efficacy of chemotherapy
Presenter: Florence Chamberlain
Session: Poster display session
Resources:
Abstract
417P - Clinicopathological profile and survival outcomes of sarcomas from a regional cancer centre in South India
Presenter: Divya Bharathi
Session: Poster display session
Resources:
Abstract
418P - Lessons learnt from treatment of foot sarcomas: Analysis from dedicated sarcoma clinic in North India
Presenter: Satyajit Pawar
Session: Poster display session
Resources:
Abstract
423P - Effectiveness of first-generation 5HT3 receptor antagonist plus dexamethasone plus aprepitant in controlling delayed chemotherapy-induced nausea and vomiting in patients with colorectal cancer: A propensity score-matched analysis
Presenter: Toshinobu Hayashi
Session: Poster display session
Resources:
Abstract
424P - Cancer worry, genetic knowledge, and attitudes towards NGS multigene panel testing among Korean breast cancer patients
Presenter: Ji Soo Park
Session: Poster display session
Resources:
Abstract
425P - Economic and safety evaluation of 5-HT3 recepter antagonist conversion from palonosetron to granisetron in highly and moderately emetogenic chemotherapy: A prospective study
Presenter: Keisuke Yamakita
Session: Poster display session
Resources:
Abstract
426P - Impaired quality of life of caregivers of patients with gastrointestinal cancer undergoing palliative chemotherapy
Presenter: Nobumichi Takeuchi
Session: Poster display session
Resources:
Abstract