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Genetic counseling: Pancreatic Cancer

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Pancreatic Cancer

Pancreatic CancerEdit

  • Incidence is more than 29,000 new cases/year in US
    • Fifth leading cause of cancer death
    • 4.1% five-year survival rate is lowest of all cancers
    • About 9-10% of pancreatic cancer is familial
  • Pancreas is a gland located in the abdomen between the stomach and the spine
    • Responsible for producing insulin, glucagon, and other hormones
    • Releases digestive juices through series of ducts leading to common bile duct
  • Risk factors for pancreatic cancer
    • Smoking - increases risk 2-3 times
    • Age - most cancers diagnosed between 60 and 80 years
    • Diabetes
    • Chronic pancreatitis
      • Long-term inflammation of the pancreas
      • Especially inherited form of the condition
    • Family history
      • Risk increases by 4.7% if first degree relative has been diagnosed
      • Increases by 7.3% if diagnosis was made before age 60
      • Increases by 12.3% if multiple primary cancers in family
    • Males and African-Americans may be at increased risk
    • Diets high in fat may increase risk

Diagnosis and Surveillance OptionsEdit

  • Possible symptoms
    • Pain in upper abdomen or upper back
    • Yellowing of skin and eyes, dark urine due to jaundice
    • Weakness
    • Loss of appetite
    • Nausea and vomiting
    • Weight loss
  • Physical exam
    • Look for signs of jaundice or changes in area near pancreas
    • Check for ascites (build-up of fluid in abdomen)
  • Lab tests
    • Blood, urine, and stool samples
    • Check for bilirubin that may be high if tumor blocking common bile duct prevents its passage
  • CT Scan
    • Produces detailed picture of abdomen
    • Can provide information about nature and location of tumors, resectability
  • Ultrasonography
    • Transabdominal ultrasound
    • Endoscopic ultrasound (EUS)
      • Pass thin, illuminated optic instrument down mouth into stomach
      • Ultrasound device at tip of endoscope takes images of pancreas and surrounding areas
  • Endoscopic Retrograde Cholangiopancreatography (ERCP)
    • Pass endoscope through mouth and stomach into first part of small intesting
    • Inject dye through catheter into ducts
    • Take X-rays to determine if ducts are narrowed or blocked by tumor
  • Percutaneous Transhepatic Cholangiography (PTC)
    • Dye injected through needle inserted through skin into liver
    • Dye moves freely through bile ducts unless blocked
    • X-rays can show if dye has moved through ducts
  • Biopsy
    • Fine-needle aspiration
    • During EUS or ERCP
    • Open abdomen during operation
  • Laparoscopy
    • Uses several small incisions and TV camera to visualize organs in abdomen
    • Usually only used if CT scan shows evidence of metastases


  • Pancreatic cancer is currently difficult to treat so participation in clinical trials is often recommended
  • Surgery
    • May be used alone or in combination with radiation or chemotherapy
    • Whipple procedure
      • If tumor is in head of pancreas
      • Remove head and part of small intestine, bile duct, and stomach
    • Distal pancreatectomy
      • Surgeon removes body and tail of pancreas
      • May also remove the spleen
    • Total pancreatectomy
      • Remove entire pancreas
      • Also remove part of small intestine and stomach, and all of common bile duct, gallbladder, spleen, and nearby lymph nodes
    • Create bypass or insert stent if tumor is blocking common bile duct or duodenum
      • Relives jaundice and pain resulting from blockage
      • Done if cancer cannot be completely removed surgically
    • Side effects of removal of all or part of pancreas
      • Diet control and medication may help with food digestion
      • Diarrhea, pain, cramping, and feelings of fullness are common
  • Radiation therapy and chemotherapy often used to destroy cancer cells

Genetic Conditions Associated with Pancreatic CancerEdit

  • Familial Atypical Multiple Mole Melanoma (FAMMM)
    • Due to mutations in p16 tumor suppressor gene
    • TP16 (CKDN2) located at 9p21
    • Affected individuals develop multiple nevi, atypical nevi, melanomas, and pancreatic cancer
  • Peutz-Jeghers Syndrome
    • Due to mutations in LKB1 (STK11) gene at 19p13.3
    • Causes multiple hamartomaous polyps of GI tract and pigmented macules on lips, buccal mucosa, and digits
    • Increases risk to develop cancers
      • In women: breast, pancreas, uterus, and ovary
      • In men: colon, pancreas, lung, or testes
  • Hereditary Breast-Ovarian Cancer Syndrome
    • Due to mutations in BRCA2 tumor suppressor gene at 13q12
    • Most common inherited predisposition to pancreatic cancer identified to date
    • Mutations in BRCA2 have been identified in individuals with no family history of breast or ovarian cancer
    • Estimated that carriers of 6174delT have 10-fold increased risk of developing pancreatic cancer
    • Increases risk for breast, ovarian, prostate, and colon cancers also
    • Due to mutations in mismatch repair genes, including MSH2 and MLH1
    • Microsatellite instability has been identified in ~4% of pancreatic cancers
    • Should be considered in patients with family history of colon cancer
    • Increases risk for colon/rectum, endometrium, ovarian, urinary tract, stomach, and small intestine also
  • MEN1
    • Due to mutations in menin tumor suppressor gene at 11q13
    • Associated specifically with insulinomas (10%) or gastrinomas (40%)
    • Can cause tumors on parathyroid and pituitary glands also
  • Hereditary Pancreatitis
    • Due to mutations in cationic trypsinogen gene on 7q35
    • Block inactivation of trypsin, resulting in autodigestion of pancrease
    • Increase in pancreatic cancer may be secondary to chronic injury and repair
    • Clinical testing available through University of Pittsburgh
    • Penetrance of mutations is only 80%

Psychosocial IssuesEdit

  • Worry about the future - caring for themselves, family, etc
  • Financial concerns
  • Concerns about treatments and side effects
  • Concern about necessity of frequent hospital visits, home care, etc
  • Feelings of guilt, anxiety, fear surrounding potential diagnosis of hereditary syndrome


  • The National Familial Pancreas Tumor Registry
Dr. Ralph H. Hruban, Director
Baltimore, MD 21231-2410
Phone: (410) 955-9132
  • Hereditary Pancreatitis Registry
Dr. Whitcomb or Dr. Lowenfels
The Midwest Multicenter Pancreatic Study Group
Phone: 888-PITT-DNA
  • National Cancer Institute
Phone: 1-800-4-CANCER


  • Hruban RH, et al. "Familial Pancreatic Cancer." Annals of Oncology (1999) 10:S69-S73.
  • "Pancreatic Cancer." Cancer Research UK.
  • Schenk M, et al. "Familial Risk of Pancreatic Cancer." Journal of the National Cancer Institute (2001) 93:640-644.
  • "What you Need to Know About Cancer of the Pancreas. National Cancer Institute.


The information in this outline was last updated in June 2002.

This material has been imported fom the wikibook "Genetic counseling"[] under the GNU Free Documentation License.

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