Identifying people at a high risk of developing pancreatic cancer (original) (raw)
Howlader, N. et al. SEER Cancer Statistics Review, 1975–2005. National Cancer Institute, [online] (2010).
Cleary, S. P. et al. Prognostic factors in resected pancreatic adenocarcinoma: analysis of actual 5-year survivors. J. Am. Coll. Surg.198, 722–731 (2004). Article Google Scholar
Klein, A. P. et al. Prospective risk of pancreatic cancer in familial pancreatic cancer kindreds. Cancer Res.64, 2634–2638 (2004). This study quantified the risk of pancreatic cancer among individuals with a strong family history of the disease paving the way for gene discovery and screening studies. ArticleCAS Google Scholar
Brune, K. A. et al. Importance of age of onset in pancreatic cancer kindreds. J. Natl Cancer Inst.102, 119–126 (2010). Article Google Scholar
Goggins, M. et al. Germline BRCA2 gene mutations in patients with apparently sporadic pancreatic carcinomas. Cancer Res.56, 5360–5364 (1996). CASPubMed Google Scholar
Jones, S. et al. Exomic sequencing identifies PALB2 as a pancreatic cancer susceptibility gene. Science324, 217 (2009). This was the first identification of a cause of a hereditary disease using exome sequencing and also demonstrated mutations in PALB2 at increased frequency in patients with familial pancreatic cancer. ArticleCAS Google Scholar
Roberts, N. J. et al. ATM mutations in patients with hereditary pancreatic cancer. Cancer Discov.2, 41–46 (2012). This study used exome and whole-genome sequencing to show that mutations in theATMgene were at an increased frequency in patients with familial pancreatic cancer. ArticleCAS Google Scholar
Warthin, A. S. Heredity with reference to carcinoma. Arch. Intern. Med.12, 546–555 (1913). This is a historical study of the power of studying cancer. Article Google Scholar
Douglas, J. A. et al. History and molecular genetics of Lynch syndrome in family G: a century later. JAMA294, 2195–2202 (2005). ArticleCAS Google Scholar
MacDermott, R. P. & Kramer, P. Adenocarcinoma of the pancreas in four siblings. Gastroenterology65, 137–139 (1973). CASPubMed Google Scholar
Friedman, J. M. & Fialkow, P. J. Carcinoma of the pancreas in four brothers. Birth Defects Orig. Artic. Ser.12, 145–150 (1976). CASPubMed Google Scholar
Reimer, R. R., Fraumeni, J. F. Jr, Ozols, R. F. & Bender, R. Pancreatic cancer in father and son. Lancet1, 911 (1977). ArticleCAS Google Scholar
Danes, B. S. & Lynch, H. T. A familial aggregation of pancreatic cancer. An in vitro study. JAMA247, 2798–2802 (1982). ArticleCAS Google Scholar
Dat, N. M. & Sontag, S. J. Pancreatic carcinoma in brothers. Ann.Intern.Med.97, 282 (1982). ArticleCAS Google Scholar
Katkhouda, N. & Mouiel, J. Pancreatic cancer in mother and daughter. Lancet2, 747 (1986). ArticleCAS Google Scholar
Ghadirian, P., Simard, A. & Baillargeon, J. Cancer of the pancreas in two brothers and one sister. Int. J. Pancreatol.2, 383–391 (1987). CASPubMed Google Scholar
Klein, A. P., Hruban, R. H., Brune, K. A., Petersen, G. M. & Goggins, M. Familial pancreatic cancer. Cancer J.7, 266–273 (2001). CASPubMed Google Scholar
Falk, R. T., Pickle, L. W., Fontham, E. T., Correa, P. & Fraumeni, J. F. Life-style risk factors for pancreatic cancer in Louisiana: a case-control study. Am. J. Epidemiol.128, 324–336 (1988). ArticleCAS Google Scholar
Friedman, G. D. & Van Den Eeden, S. K. Risk factors for pancreatic cancer: an exploratory study. Int. J. Epidemiol.22, 30–37 (1993). ArticleCAS Google Scholar
Fernandez, E., La Vecchia, C., d'Avanzo, B., Negri, E. & Franceschi, S. Family history and the risk of liver, gallbladder, and pancreatic cancer. Cancer Epidemiol. Biomarkers Prev.3, 209–212 (1994). CASPubMed Google Scholar
Price, T. F., Payne, R. L. & Oberleitner, M. G. Familial pancreatic cancer in south Louisiana. Cancer Nurs.19, 275–282 (1996). ArticleCAS Google Scholar
Ghadirian, P. et al. Reported family aggregation of pancreatic cancer within a population- based case-control study in the Francophone community in Montreal, Canada. Int. J. Pancreatol.10, 183–196 (1991). CASPubMed Google Scholar
Coughlin, S. S., Calle, E. E., Patel, A. V. & Thun, M. J. Predictors of pancreatic cancer mortality among a large cohort of United States adults. Cancer Causes Control11, 915–923 (2000). ArticleCAS Google Scholar
Schenk, M. et al. Familial risk of pancreatic cancer. J. Natl Cancer Inst.93, 640–644 (2001). ArticleCAS Google Scholar
Silverman, D. T. Risk factors for pancreatic cancer: a case-control study based on direct interviews. Teratog.Carcinog. Mutagen. 21, 7–25 (2001). Google Scholar
Jacobs, E. J. et al. Family history of cancer and risk of pancreatic cancer: a pooled analysis from the Pancreatic Cancer Cohort Consortium (PanScan). Int. J. Cancer127, 1421–1428 (2010). ArticleCAS Google Scholar
Goggins, M. et al. Use and benefits of a Web site for pancreatic cancer. JAMA280, 1309–1310 (1998). ArticleCAS Google Scholar
Petersen, G. M. & Hruban, R. H. Familial pancreatic cancer: where are we in 2003? J. Natl Cancer Inst.95, 180–181 (2003). Article Google Scholar
Hruban, R. H., Petersen, G. M., Ha, P. K. & Kern, S. E. Genetics of pancreatic cancer. From genes to families. Surg. Oncol. Clin. N. Am.7, 1–23 (1998). ArticleCAS Google Scholar
Klein, A. P. et al. Evidence for a major gene influencing risk of pancreatic cancer. Genet. Epidemiol.23, 133–149 (2002). Article Google Scholar
Bartsch, D. K. et al. Prevalence of familial pancreatic cancer in Germany. Int. J. Cancer110, 902–906 (2004). ArticleCAS Google Scholar
Schneider, R. et al. German national case collection for familial pancreatic cancer (FaPaCa): ten years experience. Fam. Cancer10, 323–330 (2011). Article Google Scholar
Greenhalf, W., Malats, N., Nilsson, M., Bartsch, D. & Neoptolemos, J. International registries of families at high risk of pancreatic cancer. Pancreatology8, 558–565 (2008). Article Google Scholar
Petersen, G. et al. Pancreatic cancer genetic epidemiology consortium. Cancer Epidemiol. Biomarkers Prev.15, 704–710 (2006). Article Google Scholar
James, T. A. et al. Risk factors associated with earlier age of onset in familial pancreatic carcinoma. Cancer101, 2722–2726 (2004). Article Google Scholar
Wang, L. et al. Elevated cancer mortality in the relatives of patients with pancreatic cancer. Cancer Epidemiol. Biomarkers Prev.18, 2829–2834 (2009). Article Google Scholar
Murphy, K. M. et al. Evaluation of candidate genes MAP2K4, MADH4, ACVR1B, and BRCA2 in familial pancreatic cancer: deleterious BRCA2 mutations in 17%. Cancer Res.62, 3789–3793 (2002). CASPubMed Google Scholar
Hahn, S. A. et al. BRCA2 germline mutations in familial pancreatic carcinoma. J. Natl Cancer Inst.95, 214–221 (2003). ArticleCAS Google Scholar
Couch, F. J. et al. The prevalence of BRCA2 mutations in familial pancreatic cancer. Cancer Epidemiol. Biomarkers Prev.16, 342–346 (2007). ArticleCAS Google Scholar
Thompson, D. & Easton, D. F. Cancer Incidence in BRCA1 mutation carriers. J. Natl Cancer Inst.94, 1358–1365 (2002). ArticleCAS Google Scholar
Ferrone, C. R. et al. BRCA germline mutations in Jewish patients with pancreatic adenocarcinoma. J. Clin. Oncol.27, 433–438 (2009). ArticleCAS Google Scholar
Axilbund, J. E. et al. Absence of germline BRCA1 mutations in familial pancreatic cancer patients. Cancer Biol. Ther.8, 1–5 (2009). Article Google Scholar
Rutter, J. L. et al. Heterogeneity of risk for melanoma and pancreatic and digestive malignancies: a melanoma case-control study. Cancer101, 2809–2816 (2004). Article Google Scholar
Vasen, H. F. et al. Risk of developing pancreatic cancer in families with familial atypical multiple mole melanoma associated with a specific 19 deletion of p16 (p16-Leiden). Int. J. Cancer87, 809–811 (2000). ArticleCAS Google Scholar
Kastrinos, F. et al. Risk of pancreatic cancer in families with Lynch syndrome. JAMA302, 1790–1795 (2009). ArticleCAS Google Scholar
van Lier, M. G. et al. High cancer risk in Peutz-Jeghers syndrome: a systematic review and surveillance recommendations. Am. J. Gastroenterol.105, 1258–1264 (2010). ArticleCAS Google Scholar
Lowenfels, A. B. et al. Hereditary pancreatitis and the risk of pancreatic cancer. International Hereditary Pancreatitis Study Group. J. Natl Cancer Inst.89, 442–446 (1997). ArticleCAS Google Scholar
Whitcomb, D. C. et al. Hereditary pancreatitis is caused by a mutation in the cationic trypsinogen gene. Nature Genet.14, 141–145 (1996). ArticleCAS Google Scholar
Whitcomb, D. C. et al. A gene for hereditary pancreatitis maps to chromosome 7q35. Gastroenterology110, 1975–1980 (1996). ArticleCAS Google Scholar
Witt, H. et al. Mutations in the gene encoding the serine protease inhibitor, Kazal type 1 are associated with chronic pancreatitis. Nature Genet.25, 213–216 (2000). ArticleCAS Google Scholar
Lowenfels, A. B., Maisonneuve, P., Whitcomb, D. C., Lerch, M. M. & DiMagno, E. P. Cigarette smoking as a risk factor for pancreatic cancer in patients with hereditary pancreatitis. JAMA286, 169–170 (2001). ArticleCAS Google Scholar
Iodice, S., Gandini, S., Maisonneuve, P. & Lowenfels, A. B. Tobacco and the risk of pancreatic cancer: a review and meta-analysis. Langenbecks Arch. Surg.393, 535–545 (2008). Article Google Scholar
Chari, S. T. et al. Probability of pancreatic cancer following diabetes: a population-based study. Gastroenterology129, 504–511 (2005). Article Google Scholar
Arslan, A. A. et al. Anthropometric measures, body mass index, and pancreatic cancer: a pooled analysis from the Pancreatic Cancer Cohort Consortium (PanScan). Arch. Intern. Med.170, 791–802 (2010). Article Google Scholar
Lucenteforte, E. et al. Alcohol consumption and pancreatic cancer: a pooled analysis in the International Pancreatic Cancer Case-Control Consortium (PanC4). Ann. Oncol.23, 374–382 (2012). ArticleCAS Google Scholar
Suarez, B. K. Hampe, G. L. & Van Eerdewegh, P. in Genetic Approaches to Mental Disorders (eds Gershon, E.S. & Cloning, C. R.) 23–46 (Amereican Psyscological Association, 1994). Google Scholar
Rahman, N. et al. PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene. Nature Genet.39, 165–167 (2007). ArticleCAS Google Scholar
Tischkowitz, M. D. et al. Analysis of the gene coding for the BRCA2-interacting protein PALB2 in familial and sporadic pancreatic cancer. Gastroenterology137, 1183–1186 (2009). Article Google Scholar
Slater, E. P. et al. PALB2 mutations in European familial pancreatic cancer families. Clin. Genet.78, 490–494 (2010). ArticleCAS Google Scholar
Claus, E. B., Risch, N. J. & Thompson, W. D. Age at onset as an indicator of familial risk of breast cancer. Am. J. Epidemiol.131, 961–972 (1990). ArticleCAS Google Scholar
Gail, M. H. et al. Projecting individualized probabilities of developing breast cancer for white females who are being examined annually. J. Natl Cancer Inst.81, 1879–1886 (1989). ArticleCAS Google Scholar
Chen, S., Wang, W., Broman, K. W., Katki, H. A. & Parmigiani, G. BayesMendel: and R Environment for Mendelian Risk Prediction. Stat. Appl. Genet. Mol. Biol.3, 21 (2004). Article Google Scholar
Wang, W. et al. PancPRO: risk assessment for individuals with a family history of pancreatic cancer. J. Clin. Oncol.25, 1417–1422 (2007). Article Google Scholar
Yachida, S. et al. Distant metastasis occurs late during the genetic evolution of pancreatic cancer. Nature467, 1114–1117 (2010). ArticleCAS Google Scholar
Gold, D. V. et al. PAM4 enzyme immunoassay alone and in combination with CA 19–19 for the detection of pancreatic adenocarcinoma. Cancer 16 Aug 2012 (doi:10.1002/cncr.27762).
Canto, M. I. et al. Frequent detection of pancreatic lesions in asymptomatic high-risk individuals. Gastroenterology142, 796–804 (2012). This is currently the largest published study of early detection screening in individuals at a high risk of pancreatic cancer owing to the family history. Article Google Scholar
Kelly, K. A. et al. Targeted nanoparticles for imaging incipient pancreatic ductal adenocarcinoma. PLoS Med.5, e85 (2008). Article Google Scholar
Canto, M. I. et al. Screening for pancreatic neoplasia in high-risk individuals: an EUS-based approach. Clin. Gastroenterol. Hepatol2, 606–621 (2004). Article Google Scholar
Brentnall, T. A., Bronner, M. P., Byrd, D. R., Haggitt, R. C. & Kimmey, M. B. Early diagnosis and treatment of pancreatic dysplasia in patients with a family history of pancreatic cancer. Ann.Intern.Med.131, 247–255 (1999). ArticleCAS Google Scholar
Bryant, H. E. et al. Specific killing of BRCA2-deficient tumours with inhibitors of poly(ADP-ribose) polymerase. Nature434, 913–917 (2005). ArticleCAS Google Scholar
McCabe, N. et al. BRCA2-deficient CAPAN-1 cells are extremely sensitive to the inhibition of Poly (ADP-Ribose) polymerase: an issue of potency. Cancer Biol. Ther.4, 934–936 (2005). ArticleCAS Google Scholar
van der Heijden, M. S. et al. In vivo therapeutic responses contingent on Fanconi anemia/BRCA2 status of the tumor. Clin. Cancer Res.11, 7508–7515 (2005). ArticleCAS Google Scholar
Tutt, A. et al. Oral poly(ADP-ribose) polymerase inhibitor olaparib in patients with BRCA1 or BRCA2 mutations and advanced breast cancer: a proof-of-concept trial. Lancet376, 235–244 (2010). ArticleCAS Google Scholar
Villarroel, M. C. et al. Personalizing cancer treatment in the age of global genomic analyses: PALB2 gene mutations and the response to DNA damaging agents in pancreatic cancer. Mol. Cancer Ther.10, 3–8 (2010). Article Google Scholar
Howes, N. et al. Clinical and genetic characteristics of hereditary pancreatitis in Europe. Clin. Gastroenterol. Hepatol.2, 252–261 (2004). ArticleCAS Google Scholar