Familial pancreatic carcinoma in Jews

Henry T. Lynch, Carolyn Deters, Jane Lynch, Randall Brand

Research output: Contribution to journalArticle

25 Citations (Scopus)

Abstract

Abstract Pancreatic cancer (PC) is the most fatal of all gastrointestinal cancers, wherein its mortality compares strikingly with its incidence. Unfortunately, 80 - 90% of PCs are diagnosed in the nonresectable stage. While the lifetime risk of PC in developed countries is approximately 1-3%, it is the fifth most common cause of cancer deaths among both males and females in Western countries. It occurs in excess in Jews. Approximately 5-10% of PC shows familial clustering. Examination of such familial clusters must take into consideration cancers of diverse anatomic sites, such as malignant melanoma in the familial atypical multiple melanoma (FAMMM) syndrome due to the CDKN2A (p16) germline mutation, and combinations of colorectal and endometrial carcinoma, ovarian carcinoma, and several other cancers in hereditary nonpolyposis colorectal cancer (HNPCC), which are due to mismatch repair germline mutations, the most common of which are MSH2 and MLH1. Other hereditary disorders predisposing to PC include Peutz-Jeghers syndrome, due to the STK11 mutation, familial pancreatitis due to the cationic trypsinogen gene, site-specific familial pancreatic cancer which may be due to the 4q32-34 mutation, hereditary breast-ovarian cancer (HBOC) syndrome that is due to BRCA2 and possibly some families with HBOC that is due to BRCA1, familial adenomatous polyposis due to the ATP gene, and ataxia telangiectasia due to the ATM germline mutation. This extant heterogeneity mandates that the physician be knowledgeable about these PC-prone syndromes which play such an important role when considering the differential diagnosis of hereditary PC. Unfortunately, there are no PC screening programs with acceptable sensitivity and specificity. However, the gold standard for screening at this time is endoscopic ultrasound. Clearly, there is a great need for the development of novel screening approaches with acceptable sensitivity and specificity. Further research is needed to elucidate those etiologic factors that contribute to the apparent excess of PC in Ashkenazi Jews. Attention should also be given to the search for mutations predisposing to PC in Jews so that opportunities to learn more about the disease's pathogenesis, as well as screening and control, may take place.

Original languageEnglish
Pages (from-to)233-240
Number of pages8
JournalFamilial Cancer
Volume3
Issue number3-4
DOIs
StatePublished - 2004

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Jews
Pancreatic Neoplasms
Germ-Line Mutation
Mutation
Hereditary Breast and Ovarian Cancer Syndrome
Melanoma
Familial Pancreatic carcinoma
Peutz-Jeghers Syndrome
Trypsinogen
Hereditary Nonpolyposis Colorectal Neoplasms
Sensitivity and Specificity
Ataxia Telangiectasia
Neoplasms
Adenomatous Polyposis Coli
DNA Mismatch Repair
Gastrointestinal Neoplasms
Endometrial Neoplasms
Early Detection of Cancer
Developed Countries
Ovarian Neoplasms

All Science Journal Classification (ASJC) codes

  • Cancer Research
  • Genetics

Cite this

Familial pancreatic carcinoma in Jews. / Lynch, Henry T.; Deters, Carolyn; Lynch, Jane; Brand, Randall.

In: Familial Cancer, Vol. 3, No. 3-4, 2004, p. 233-240.

Research output: Contribution to journalArticle

Lynch, HT, Deters, C, Lynch, J & Brand, R 2004, 'Familial pancreatic carcinoma in Jews', Familial Cancer, vol. 3, no. 3-4, pp. 233-240. https://doi.org/10.1007/s10689-004-9549-8
Lynch, Henry T. ; Deters, Carolyn ; Lynch, Jane ; Brand, Randall. / Familial pancreatic carcinoma in Jews. In: Familial Cancer. 2004 ; Vol. 3, No. 3-4. pp. 233-240.
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