Life with a high-risk pancreatic and melanoma cancer mutation
https://www.facingourrisk.org/XRAY/life-with-CDKN2A-a-high-risk-pancreatic-and-melanoma-mutation
Full article: https://pubmed.ncbi.nlm.nih.gov/38662261/
One woman seeks genetic testing after her sister died of pancreatic cancer. Despite how her family’s mutation in the CDKN2A gene resulted in multiple cancer diagnoses and deaths and a suspicious finding during her own pancreatic cancer screening, Amarensia Spruitenburg shares a message of hope and gratitude. By telling her story, Amarensia highlights the impact that hereditary cancer can have on families. (Posted 11/22/24)
Questions To Ask Your Health Care Provider
- How can I get involved in a pancreatic cancer screening clinical trial or study?
- How can I get involved in a familial melanoma clinical trial or study?
- Given my family history and age, what type of screening do you recommend?
- Have you managed pancreatic cancer screening in many people with inherited mutations?
- What are the risks associated with pancreatic cancer screening?
- Am I at risk for any other cancers with this specific mutation? If so, what are the recommendations for screening for those risks?
- What are the latest NCCN guidelines related to my genetic mutation and screening?
Open Clinical Trials
The following studies are looking at risk management for pancreatic cancer:
- NCT04970056: Pancreatic Cancer Early Detection for People at High Risk (PRECEDE). The study will collect clinical information, family history and samples (blood, saliva or cheek swab) from people and families at risk for pancreatic cancer.
- NCT02000089: Pancreatic Cancer Screening Study (CAPS5). The CAPS5 study is looking at screening for early cancer in people with an elevated lifetime risk of developing pancreatic cancer who are undergoing screening with endoscopic ultrasound, MRCP or CT scan.
- NCT03250078: A Pancreatic Cancer Screening Study in Hereditary High-Risk Individuals. The main goal of this study is to screen and detect pancreatic cancer and precursor lesions in individuals with a strong family history or genetic predisposition to pancreatic cancer. Magnetic Resonance Imaging and Magnetic Cholangiopancreatography (MRI/MRCP) will be utilized to screen for early-stage pancreatic cancer or precursor lesions.
- NCT02478892: Preliminary Evaluation of Screening for Pancreatic Cancer in Patients With Inherited Genetic Risk. This prospective, observational study is evaluating the utility of endoscopic ultrasound or MRI for the identification of preneoplastic and neoplastic pancreatic lesions in patients at high risk for pancreatic cancer, specifically those with BRCA1/2, ATM or PALB2 mutations.
- NCT03568630: Blood Markers of Early Pancreas Cancer. Identifying biomarkers of early pancreatic ductal adenocarcinoma (PDAC) could facilitate screening for individuals with higher-than-average risk, expedite the diagnosis in individuals with symptoms and substantially improve an individual's chance of surviving the disease.
- NCT03250078: A Pancreatic Cancer Screening Study in Hereditary High-Risk Individuals. The goal of this study is to screen for pancreatic cancer in individuals with a strong family history or genetic risk using Magnetic Resonance Imaging and Magnetic Cholangiopancreatography (MRI/MRCP).
Other clinical trials for pancreatic cancer screening and prevention may be found here.
About FORCE
FORCE is a national nonprofit organization, established in 1999. Our mission is to improve the lives of individuals and families affected by adult hereditary cancers.