To view the fulltext, please log in
To view the pdf, please log in
- FullText & PDF
- Unlimited re-access via MyKarger (new!)
- Unrestricted printing, no saving restrictions for personal use
- Reduced rates with a PPV account
- Rent for 48h to view
- Buy Cloud Access for unlimited viewing via different devices
- Synchronizing in the ReadCube Cloud
- Printing and saving restriction apply
Rental: USD 8.50
Cloud: USD 20.00
- Automatic perpetual access to all articles of the subscribed year(s)
- Unlimited re-access via Subscriber Login or MyKarger
- Unrestricted printing, no saving restrictions for personal use
Article / Publication Details
Background/Aims: The prevalence of familial pancreatic cancer (FPC) and the characteristics of FPC have not yet been well investigated in the German population. Therefore, a German case collection for FPC was established in July 1999 to collect and evaluate data on FPC families. Methods: The prevalence of pancreatic cancer (PC) as well as other tumours and diseases was studied in families with at least 2 first-degree relatives with histologically confirmed PC, and in families of patients with PC and a first-degree relative with malignant melanoma. All participating family members were genetically counselled and evaluated by a standardised questionnaire. Results: In an 18-month period, 73 independent kindreds with potential FPC contacted the national case collection. So far, 20 kindreds have fulfilled the criteria for FPC and have undergone complete workups. Most families revealed an autosomal dominant pattern of inheritance. Twelve families revealed an isolated accumulation of PC. Importantly, in 8 of 20 (35%) families, additional tumour types such as melanoma, breast and prostate cancer occurred. Conclusion: The observed phenotypic heterogeneity indicates an association with predisposing tumour suppressor genes p16 and BRCA2 in up to 30% of FPC families. Mutation analysis of these candidate genes might lead to the identification of the predisposing gene defect in a proportion of FPC families.
Article / Publication Details
Copyright / Drug Dosage
Copyright: All rights reserved. No part of this publication may be translated into other languages, reproduced or utilized in any form or by any means, electronic or mechanical, including photocopying, recording, microcopying, or by any information storage and retrieval system, without permission in writing from the publisher or, in the case of photocopying, direct payment of a specified fee to the Copyright Clearance Center.
Drug Dosage: The authors and the publisher have exerted every effort to ensure that drug selection and dosage set forth in this text are in accord with current recommendations and practice at the time of publication. However, in view of ongoing research, changes in goverment regulations, and the constant flow of information relating to drug therapy and drug reactions, the reader is urged to check the package insert for each drug for any changes in indications and dosage and for added warnings and precautions. This is particularly important when the recommended agent is a new and/or infrequently employed drug.
Disclaimer: The statements, opinions and data contained in this publication are solely those of the individual authors and contributors and not of the publishers and the editor(s). The appearance of advertisements or/and product references in the publication is not a warranty, endorsement, or approval of the products or services advertised or of their effectiveness, quality or safety. The publisher and the editor(s) disclaim responsibility for any injury to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements.
- Arbeitsgemeinschaft Bevölkerungsbezogener Krebsregister in Deutschland: Krebs in Deutschland – Häufigkeiten und Trends. Saarbrücken, Statistisches Landesamt, 1999.
- Lynch HT, Fitzsimmons ML, Smyrk TC, Lanspa SJ, Watson P, McClellan J, Lynch JF: Familial pancreatic cancer: Clinicopathologic study of 18 nuclear families. Am J Gastroenterol 1990;85:54–60.
- Lynch HT, Fusaro L, Lynch JF: Familial pancreatic cancer: A family study. Pancreas 1992;7:511–515.
- Lynch HT: Genetics and pancreatic cancer. Arch Surg 1994;129:266–268.
- Lynch HT, Fusaro L, Smyrk TC, Watson P, Lanspa S, Lynch JF: Medical genetic study of eight pancreatic cancer-prone families. Cancer Invest 1995;13:141–149.
- Banke MG, Mulvihill JJ, Aston CE: Inheritance of pancreatic cancer in pancreatic cancer-prone families. Med Clin North Am 2000;84:677–690.
- Hruban RH, Petersen GM, Ha PK, Kern SE: Genetics of pancreatic cancer. From genes to families. Surg Oncol Clin N Am 1998;7:1–23.
- Hruban RH, Petersen GM, Goggins M, Tersmette AC, Offerhaus GJ, Falatko F, Yeo CJ, Kern SE: Familial pancreatic cancer. Ann Oncol 1999;10:69–73.
- Lowenfels AB, Maisonneuve P, DiMagno EP, Elitsur Y, Gates LK, Perrault J, Whitcomb DC: Hereditary pancreatitis and the risk of pancreatic cancer. International Hereditary Pancreatitis Study Group. J Natl Cancer Inst 1997;89:442–446.
- Giardiello FM, Welsh SB, Hamilton SR, Offerhaus GJ, Gittelsohn AM, Booker SV, Krush AJ, Yardley JH, Luk GD: Increased risk of cancer in the Peutz-Jeghers syndrome. N Engl J Med 1987;316:1511–1514.
- McKusick VA: Ataxia teleangiectatica; in McKusick MA (ed): Mendelian Inheritance in Man, ed 9. Baltimore, Johns Hopkins University, 1990, p 68.
- Lynch HT, Smyrk TC, Watson P, Lanspa SJ, Lynch JF, Lynch PM, Cavalieri RJ, Boland CR: Genetics, natural history, tumor spectrum, and pathology of hereditary nonpolyposis colorectal cancer: An updated review. Gastroenterology 1993;104:1535–1549.
- Li FP, Fraumeni JF: Soft-tissue sarcomas, breast cancer, and other neoplasms. A familial syndrome? Ann Intern Med 1969;71:747–752.
- Offerhaus GJ, Giardiello FM, Krush AJ, Booker SV, Tersmette AC, Kelley NC, Hamilton SR: The risk of upper gastrointestinal cancer in familial adenomatous polyposis. Gastroenterology 1992;102:1980–1982.
- Phelan CM, Lancaster JM, Tonin P, Gumbs C, Cochran C, Carter R, Ghadirian P, Perret C, Moslehi R, Dion F, Faucher MC, Dole K, Karimi S, Foulkes W, Lounis H, Warner E, Goss P, Anderson D, Larsson C, Narod SA, Futreal PA: Mutation analysis of the BRCA2 gene in 49 site-specific breast cancer families. Nat Genet 1996;13:120–122.
- Bergman W, Watson P, de Jong J, Lynch HT, Fusaro RM: Systemic cancer and the FAMMM syndrome. Br J Cancer 1990;61:932–936.
- Lynch HT, Smyrk T, Kern SE, Hruban RH, Lightdale CJ, Lemon SJ, Lynch JF, Fusaro LR, Fusaro RM, Ghadirian P: Familial pancreatic cancer: A review. Semin Oncol 1996;23:251–275.
- Schuz J, Schon D, Batzler W, Baumgardt-Elms C, Eisinger B, Lehnert M, Stegmaier C: Cancer registration in Germany: Current status, perspectives and trends in cancer incidence 1973–1993. J Epidemiol Biostat 2000;5:99–107.
- Cancer risks in BRCA2 mutation carriers. The Breast Cancer Linkage Consortium. J Natl Cancer Inst 1999;91:1310–1316.
- Thorlacius S, Olafsdottir G, Tryggvadottir L, Neuhausen S, Jonasson JG, Tavtigian SV, Tulinius H, Ogmundsdottir HM, Eyfjord JE: A single BRCA2 mutation in male and female breast cancer families from Iceland with varied cancer phenotypes. Nat Genet 1996;13:117–119.
- Goggins M, Schutte M, Lu J, Moskaluk CA, Weinstein CL, Petersen GM, Yeo CJ, Jackson CE, Lynch HT, Hruban RH, Kern SE: Germline BRCA2 gene mutations in patients with apparently sporadic pancreatic carcinomas. Cancer Res 1996;56:5360–5364.
- Ozcelik H, Schmocker B, Di Nicola N, Shi XH, Langer B, Moore M, Taylor BR, Narod SA, Darlington G, Andrulis IL, Gallinger S, Redston M: Germline BRCA2 6174delT mutations in Ashkenazi Jewish pancreatic cancer patients. Nat Genet 1997;16:17–18.
- Whelan AJ, Bartsch D, Goodfellow PJ: Brief report: A familial syndrome of pancreatic cancer and melanoma with a mutation in the CDKN2 tumor-suppressor gene. N Engl J Med 1995;333:975–977.
- Goldstein AM, Fraser MC, Struewing JP, Hussussian CJ, Ranade K, Zametkin DP, Fontaine LS, Organic SM, Dracopoli NC, Clark WH, et al: Increased risk of pancreatic cancer in melanoma-prone kindreds with p16INK4 mutations. N Engl J Med 1995;333:970–974.
- Bartsch D, Goodfellow PJ, Whelan AJ: A new familial syndrome of pancreatic cancer and melanoma associated with mutation in CDKN2. Am J Hum Genet 1995;57(suppl):A24.
- Moskaluk CA, Hruban H, Lietman A, Smyrk T, Fusaro L, Fusaro R, Lynch J, Yeo CJ, Jackson CE, Lynch HT, Kern SE: Novel germline p16(INK4) allele (Asp145Cys) in a family with multiple pancreatic carcinomas. Mutations in brief no. 148. Online. Hum Mutat 1998;12:70.
- Brentnall TA, Bronner MP, Byrd DR, Haggitt RC, Kimmey MB: Early diagnosis and treatment of pancreatic dysplasia in patients with a family history of pancreatic cancer. Ann Intern Med 1999;131:247–255.
- Kochman ML, Elta GH, Bude R, Nostrant TT, Scheiman JM: Utility of a linear array ultrasound endoscope in the evaluation of suspected pancreatic disease. J Gastrointest Surg 1998;2:217–222.
- Adamek HE, Albert J, Breer H, Weitz M, Schilling D, Riemann JF: Pancreatic cancer detection with magnetic resonance cholangiopancreatography and endoscopic retrograde cholangiopancreatography: A prospective controlled study. Lancet 2000;356:190–193.
- Groden J, Thliveris A, Samowitz W, Carlson M, Gelbert L, Albertsen H, Joslyn G, Stevens J, Spirio L, Robertson M, et al: Identification and characterization of the familial adenomatous polyposis coli gene. Cell 1991;66:589–600.
- Hall JM, Lee MK, Newman B, Morrow JE, Anderson LA, Huey B, King MC: Linkage of early-onset familial breast cancer to chromosome 17q21. Science 1990;250:1684–1689.