Up to 1 in 10 people with pancreatic cancer have a hereditary predisposition
Pancreatic cancer is the 15th most common cancer worldwide, but it has a very high fatality rate, with an estimated 5-year survival rate of only 5-10% after diagnosis. In Europe, pancreatic cancer causes over 95,000 deaths every year, and the life expectancy from the time of diagnosis is less than 5 months. The incidence rates of pancreatic cancer are higher in men than in women. Pancreatic cancer is correlated with older age, as almost 90% of diagnosed patients are over 55 years old. Although rare, pancreatic cancer can still occur in people under the age of 30 – mostly due to genetic predisposition.
Pancreatic cancer rarely shows signs or symptoms in early stages, which results in diagnostic delays. In most cases, it is detected at an advanced stage when the disease has already metastasized. The main functions of the pancreas is the production of enzymes and hormones for food digestion, and the control of blood-sugar levels. Consequently, symptoms of pancreatic cancer can include jaundice, loss of appetite, unintentional weight loss, fatigue, fever, and digestion problems like feeling or being sick, diarrhea or constipation, and pain in the abdomen and back. As these symptoms overlap with many other illnesses, it is important to consult a healthcare provider if they continue or progressively worsen.
Pancreatic cancer is generally sporadic. Its causes are still not sufficiently identified, but certain factors, including smoking, being overweight, or a personal history of diabetes, raise the risk of pancreatic cancer. 5-10% of pancreatic cancer cases are hereditary. Individuals with a family history of pancreatic cancer are at risk for hereditary pancreatic cancer, as they may carry certain inherited germline mutations. These are genetic changes passed down from parents to their children and increase one’s risk of developing cancer. As with other hereditary cancers, patients with hereditary mutations in specific genes (e.g., BRCA1 and BRCA2) may benefit from targeted therapies. Individuals with a family history of cancer can benefit from hereditary cancer screening to assess their risk of cancer, which would enable them to make informed decisions, such as prophylactic measures to reduce their cancer risk, or undergoing routine screening to detect cancer early, when treatment could be more successful.
Several tests are needed for the diagnosis of pancreatic cancer. As jaundice is often the first sign, blood tests assessing liver function are performed, and can be followed by ultrasounds, CT, PET or MRI scans. Although these tests can strongly indicate the presence of pancreatic cancer, a pancreatic biopsy is performed for confirmation. Treating pancreatic cancer can be difficult, and therapy depends on the size and type of cancer, its position, and if it has metastasized. Early diagnosis and treatment are very important as they could improve prognosis and therapy effectiveness.
Diagnostic delays due to overlapping symptoms are one of the biggest challenges regarding pancreatic cancer, resulting in patients being diagnosed at advanced stages where survival rates are very low. Patients in high risk, like those with hereditary predisposition can benefit from cancer screening. Due to the important benefits of early diagnosis, educating society on the risks and symptoms of pancreatic cancer are the key to raising awareness and providing the best building blocks upon which innovative and beneficial therapies can be found.
PreSENTIA hereditary cancer test, developed and offered by NIPD Genetics, can detect numerous genetic changes associated with hereditary cancer. The PreSENTIA Pancreatic panel tests for germline mutations with cancer susceptibility in 17 genes. To learn more please visit www.nipd.com
The content is intended for educational purposes only and should not be perceived as medical advice. Hereditary cancer testing, possible next steps and clinical management should always be fully discussed with your healthcare provider.
Compiled using information from:
National Cancer Institute. [https://www.cancer.gov/types/pancreatic/patient/pancreatic-treatment-pdq#_110]
World Cancer Research Fund. [https://www.wcrf.org/dietandcancer/pancreatic-cancer-statistics/]
GBD 2017 Pancreatic Cancer Collaborators. The global, regional, and national burden of pancreatic cancer and its attributable risk factors in 195 countries and territories, 1990-2017: a systematic analysis for the Global Burden of Disease Study 2017. Lancet Gastroenterol Hepatol. 2019 Dec;4(12):934-947. doi: 10.1016/S2468-1253(19)30347-4. Epub 2019 Oct 21. Erratum in: Lancet Gastroenterol Hepatol. 2020 Mar;5(3):e2. PMID: 31648972; PMCID: PMC7026711.
Rawla P, Sunkara T, Gaduputi V. Epidemiology of Pancreatic Cancer: Global Trends, Etiology and Risk Factors. World J Oncol. 2019 Feb;10(1):10-27. doi: 10.14740/wjon1166. Epub 2019 Feb 26. PMID: 30834048; PMCID: PMC6396775.
Pihlak R, Valle JW, McNamara MG. Germline mutations in pancreatic cancer and potential new therapeutic options. Oncotarget. 2017 Apr 20;8(42):73240-73257. doi: 10.18632/oncotarget.17291. PMID: 29069866; PMCID: PMC5641209.
Rosen MN, Goodwin RA, Vickers MM. BRCA mutated pancreatic cancer: A change is coming. World J Gastroenterol. 2021 May 7;27(17):1943-1958. doi: 10.3748/wjg.v27.i17.1943. PMID: 34007132; PMCID: PMC8108028.
Gheorghe G, Bungau S, Ilie M, Behl T, Vesa CM, Brisc C, Bacalbasa N, Turi V, Costache RS, Diaconu CC. Early Diagnosis of Pancreatic Cancer: The Key for Survival. Diagnostics (Basel). 2020 Oct 24;10(11):869. doi: 10.3390/diagnostics10110869. PMID: 33114412; PMCID: PMC7694042.
International Agency for Research on Cancer. [https://gco.iarc.fr/today/explore]
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