Update on Familial Pancreatic Cancer
Section snippets
Using family history to assess cancer risk
As recognition that pancreatic cancer aggregates in families grows, more and more surgeons are being asked by their patients: “I have a family history of pancreatic cancer, what is my risk of developing cancer?” A body of evidence-based medicine has been developed to answer this question, and it is clear that individuals with a family history of pancreatic cancer have an increased risk of pancreatic and of extrapancreatic malignancies [4], [44], [45].
Familial pancreatic cancer genes
We have handled the question of risk assessment using family cancer history, but in most instances an individual's family cancer history is, at best, just a surrogate for gene status, and determining the specific gene responsible for a given patient's cancer can have significant clinical implications. A patient might come to the office and ask “I have a family history of pancreatic cancer; can I undergo genetic testing, and, if so, for which genes?”
Although we believe that this question is
Therapeutic implications
So far, this review has quantified the risk of pancreatic cancer and identified some of the genes responsible for familial pancreatic cancer. However, there is a third question from our hypothetical patient: “I have a germline mutation in a cancer predisposition gene; can this knowledge be used to guide my treatment?” The answer depends on the patient's specific gene mutation.
Screening for early neoplasia
Our hypothetical patient, recognizing the value of prevention, next asks: “I have seen several of my family members die of pancreatic cancer, and I do not want to suffer the same fate. Are any screening tests available?” There are no clinically proven effective screening tests available for the early detection of pancreatic cancer at this time. Serum CA19–9 levels have been suggested as a possible test, but the assay lacks the sensitivity and specificity needed to screen for pancreatic cancer
The future
The coming year will see an expansion of our understanding of familial pancreatic cancer. Next-generation sequencing will allow researchers to sequence candidate familial pancreatic cancer genes on a scale unimaginable just a few years ago. Investigators at Johns Hopkins University are planning to sequence the coding genomes of a series of patients with familial pancreatic cancer. The resultant information will offer unparalleled opportunities to improve patient care. Investigators at Johns
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