Familial Pancreatic Cancer

Authors: Hruban R.H.¹; Petersen G.M.²; Goggins M.³; Tersmette A.C.⁴; Offerhaus G.J.A.⁴; Falatko F.³; Yeo C.J.⁵; Kern S.E.¹

Source: Annals of Oncology, Volume 10, Supplement 4, 1999 , pp. 69-73(5)

Publisher: Springer

Abstract:

Background: For many years anecdotal case reports have suggested that pancreatic cancer aggregates in some families.

Methods: Two recent advances have established that this is in fact the case. First, large registries, such as the National Familial Pancreas Tumor Registry (NFPTR) at Johns Hopkins, have identified a number of families in which multiple family members have been diagnosed with pancreatic cancer. As a result, the patterns of inheritance of pancreatic cancer can now be studied on a scale not possible before. Second, advances in molecular genetic techniques make it possible to test members of these families for germline mutations in known candidate cancer causing genes. As a result, some of the genetic alterations responsible for the familial aggregation of pancreatic cancer have been identified in some families.

Results: The NFPTR has enrolled 362 families in which at least one family member has been diagnosed with pancreatic cancer. These include 151 families in which at least two first-degree relatives have been diagnosed with pancreatic cancer. Analysis of these families has revealed that even second-degree relatives of patients from these families are at increased risk of developing pancreatic cancer. In addition, a number of kindreds which exhibit aggregation of cancer have been tested for germline mutations in known cancer causing genes. Germline mutations in BRCA2 have been shown to predispose to both breast and pancreatic cancer, germline mutations in p16 to melanoma and pancreatic cancer (the FAMMM syndrome), and genetic mutations in STK11/LKB1 to pancreatic cancer in patients with the Peutz-Jeghers Syndrome (PJS).

Conclusions: Pancreatic cancer aggregates in some families, and relatives of patients with pancreatic cancer have an increased risk of developing pancreatic cancer themselves. The genetic basis for the familial aggregation of pancreatic cancer has been shown to be germline mutations in known cancer causing genes in some of these families.

Keywords: familial; families; inheritance; pancreas; pancreatic cancer; tumor suppressor genes

Language: English

Document Type: Regular paper

Affiliations: 1: Department of Pathology, The Johns Hopkins Medical Institutions, Baltimore, MD. USA; Department of Oncology, The Johns Hopkins Medical Institutions, Baltimore, MD. USA 2: Department of Epidemiology, The Johns Hopkins School of Public Health, Baltimore, MD. USA 3: Department of Pathology, The Johns Hopkins Medical Institutions, Baltimore, MD. USA 4: Department of Pathology, the Academic Medicine Center, Amsterdam, The Netherlands 5: Department of Oncology, The Johns Hopkins Medical Institutions, Baltimore, MD. USA; Department of Surgery, The Johns Hopkins Medical Institutions, Baltimore, MD. USA

Publication date: 1999-01-01

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• In this Subject: Oncology
• By this author: Hruban R.H. ;  Petersen G.M. ;  Goggins M. ;  Tersmette A.C. ;  Offerhaus G.J.A. ;  Falatko F. ;  Yeo C.J. ;  Kern S.E.

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