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BRCA and the Risk of Pancreatic Cancer

by Sue Friedman

(Adapted/Excerpted from the session BRCA and Other Cancers)
Presented by Jason Klapman, MD and Cathy Phelan, MD, PhD, H. Lee Moffitt Cancer Center

Dr. Klapman is an expert in gastrointestinal cancer, with a special interest in pancreatic cancer. He explained that pancreatic cancer is a difficult disease to screen for because there is currently no reliable method of early detection. Approximately 37,000 new cases of pancreatic cancer are diagnosed each year; most people diagnosed die from the disease within one year. Some risk factors for pancreatic cancer include smoking, diabetes, and pancreatitis (chronic inflammation of the pancreas). Hereditary factors account for about 10 percent of pancreatic cancer cases.

Dr. Klapman discussed different cancer syndromes that increase the risk for pancreatic cancer. Of hereditary pancreatic cancers, BRCA2 is the most common mutation found, accounting for about one-fifth of pancreatic cases where there is a family history of the disease. BRCA2 is found in up to 10 percent of pancreatic cancers, even when there is no family history of pancreatic cancer, underscoring the importance for people with pancreatic cancer to consult with a genetic expert. Dr. Phelan estimated lifetime risk in the general population to be about one percent, compared with a BRCA2 mutation carrier, whose risk is estimated at three to five percent. BRCA1 carriers also have an elevated risk for pancreatic cancer; about two percent or double the average risk.

Family history is an important factor in determining pancreatic risk. A person with two first-degree relatives with pancreatic cancer has an 18-fold increase in risk. A person with three or more relatives with pancreatic cancer has a 57-fold increase in risk. According to Dr. Klapman, the elevated risk in BRCA1 carriers is not considered very high, and not high enough to warrant inclusion in the early detection study, unless there is a history of pancreatic cancer in the family. He identified two rare hereditary syndromes which increase the risk for pancreatic cancer: Peutz-Jegher and a rare type of familial melanoma syndrome.

Dr. Klapman presented the symptoms of pancreatic cancer, but stressed that most pancreatic tumors are symptomless until they advance enough to block the bile ducts, which leads to jaundice. Individuals with symptoms often report nonspecific conditions such as:

  • Painless jaundice
  • Pancreatitis
  • Weight loss
  • Abdominal pain
  • Loss of appetite

Absent effective screening techniques, 75 percent of pancreatic cancers are identified in the latest stage. Dr. Klapman stressed that pancreatic cancer is deadly, but it is uncommon, making it impractical to screen the general population. His research involves screening those at highest risk for the disease.

Studies to develop early detection for pancreatic cancer involve passing a small ultrasound device on the tip of an endoscope through the mouth and into the stomach. This allows physicians to visualize the pancreas, which lies behind the stomach, in great detail and potentially find masses as small as 3 mm. The procedure is considered relatively safe, but does involve anesthesia and subjects patients to related side effects and risks.

According to Dr. Klapman, the sensitivity and specificity of this procedure has so far been promising. The study is also looking at ways to develop a blood test for pancreatic cancer.

How to Participate in Dr. Klapman’s Study

Participation in the pancreatic cancer early detection study is open to high-risk individuals who meet any of the following criteria:

  • Have two or more relatives with pancreatic cancer and have a first- degree relationship with at least one of the relatives with pancreatic cancer.
    • If only two family members are affected, both must have had pancreatic cancer and a first-degree relationship with the individual screened.
    • If more than two affected individuals are on the same side of the family, at least one must have a first-degree relationship with the member being screened.
    • Be at least age 40 or older, or 10 years younger than the youngest affected individual.
  • Peutz-Jeghers Syndrome patient under age 30.
  • Hereditary pancreatitis patient.
  • Familial Atypical Multiple Mole Melanoma Syndrome patient.
  • Patients with a BRCA2 mutation and at least one first- or second-degree relative with documented pancreatic cancer.

Participants must also be willing to undergo:

  • Endoscopic ultrasound (EUS) with possible fine needle aspiration (FNA).
    Surgical evaluation for abnormal EUS/ FNA finding.
  • Radiographic evaluation if screening findings are abnormal.

Contact Jennifer Gonzalez BS, clinical trial coordinator, H. Lee Moffit Cancer Center, at 813-745-1805 for more information.

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