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Hereditary pancreatic cancer

Sporadic pancreatic adenoadecarcinoma (PDAC) occurs worldwide at an approximate frequency of 1 in 10,000 people, however, the risk of developing PDAC increases according to the number of affected family members from 2.3 fold with one affected family member to 32 fold with three affected family members.

An estimated 5-10% of pancreatic cancers diagnosed have a familial background. Familial Pancreatic Cancer (FPC) is a rare syndrome defined as those families with two or more first-degree rela­tives with pancreatic cancer that do not fulfil the cri­teria of any other inherited tumour syndrome. FPC appears to be inherited in an autosomal dominant manner and around 15–20% of families carry germline mutations in BRCA2, PALB2 and ATM, although for the majority of families the major underlying genetic defect(s) are unknown. Families present with either a high incidence of only pancreatic cancer or in combination with other cancer syndromes such as breast/ovarian, Peutz Jeghers Syndrome (PJS) and Familial Atypical Multiple Mole Melanoma (FAMMM). Furthermore, patients with hereditary pancreatitis and a germline mutation in PRSS1 have an increased risk of developing PDAC. Familial pancreatic cancer offers an opportunity for early detection of pancreatic cancer in high-risk populations.

There are several screening programs running today in reference centers worldwide for high-risk individuals even though screening for pancreatic cancer in hereditary/familial risk group is not yet part of all national guidelines. However, in Sweden, for example, there are recommendations in the national guidelines for diagnosis of pancreatic cancer for such screening programs: https://www.cancercentrum.se/samverkan/cancerdiagnoser/bukspottkortel/vardprogram/gallande-vardprogram/6.-screening-av-familjar-pankreascancer/

You will also find information about pancreatic cancer and high-risk individuals at the Swedish patient organization PALEMA’s website (information in Swedish).

 

References:

  1. Klein AP, Brune KA, Petersen GM, et al. Prospective risk of pancreatic cancer in familial pancreatic cancer kindreds. Cancer Res. 2004;64(7):2634-8.
  2. Hidalgo M. Pancreatic cancer. N Engl J Med. 2010;362(17):1605-17.
  3. Brand RE, Lerch MM, Rubinstein WS, et al. Advances in counselling and surveillance of patients at risk for pancreatic cancer. Gut. 2007;56(10):1460-9.
  4. Bartsch DK, Gress TM, Langer P. Familial pancreatic cancer–current knowledge. Nat Rev Gastroenterol Hepatol. 2012;9(8):445-53.
  5. Rebours V, Boutron-ruault MC, Schnee M, et al. Risk of pancreatic adenocarcinoma in patients with hereditary pancreatitis: a national exhaustive series. Am J Gastroenterol. 2008;103(1):111-9.

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