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Volumn 17, Issue 7, 2015, Pages 569-577

BRCA1, BRCA2, PALB2, and CDKN2A mutations in familial pancreatic cancer: A PACGENE study

(18)  Zhen, David B a   Rabe, Kari G a   Gallinger, Steven b   Syngal, Sapna c   Schwartz, Ann G d   Goggins, Michael G e   Hruban, Ralph H e   Cote, Michele L d   McWilliams, Robert R a   Roberts, Nicholas J e,f   Cannon Albright, Lisa A g   Li, Donghui h   Moyes, Kelsey i   Wenstrup, Richard J i   Hartman, Anne Renee i   Seminara, Daniela j   Klein, Alison P e   Petersen, Gloria M a  


Author keywords

BRCA1; BRCA2; CDKN2A; familial pancreatic cancer; PALB2

Indexed keywords

BRCA1 PROTEIN; BRCA2 PROTEIN; CYCLIN DEPENDENT KINASE INHIBITOR 2A; DNA; PALB2 PROTEIN; PROTEIN; UNCLASSIFIED DRUG; BRAP PROTEIN, HUMAN; BRCA2 PROTEIN, HUMAN; NUCLEAR PROTEIN; PALB2 PROTEIN, HUMAN; TUMOR SUPPRESSOR PROTEIN; UBIQUITIN PROTEIN LIGASE;

EID: 84942550897     PISSN: 10983600     EISSN: 15300366     Source Type: Journal    
DOI: 10.1038/gim.2014.153     Document Type: Article
Times cited : (229)

References (40)
  • 1
    • 79958043675 scopus 로고    scopus 로고
    • National Cancer Institute: Bethesda, MD,Accessed April 2014
    • Howlader N, Noone AM, Krapcho M, et al. SEER Cancer Statistics, 1975-2011. National Cancer Institute: Bethesda, MD, 2014. http://seer. cancer. gov/csr/1975-2011/. Accessed April 2014.
    • (2014) SEER Cancer Statistics
    • Howlader, N.1    Noone, A.M.2    Krapcho, M.3
  • 2
    • 84902147062 scopus 로고    scopus 로고
    • Projecting cancer incidence and deaths to 2030: The unexpected burden of thyroid, liver, and pancreas cancers in the United States
    • Rahib L, Smith BD, Aizenberg R, Rosenzweig AB, Fleshman JM, Matrisian LM. Projecting cancer incidence and deaths to 2030: the unexpected burden of thyroid, liver, and pancreas cancers in the United States. Cancer Res 2014;74:2913-2921.
    • (2014) Cancer Res , vol.74 , pp. 2913-2921
    • Rahib, L.1    Smith, B.D.2    Aizenberg, R.3    Rosenzweig, A.B.4    Fleshman, J.M.5    Matrisian, L.M.6
  • 3
    • 84873412474 scopus 로고    scopus 로고
    • International cancer of pancreas screening (caps) consortium,international cancer of the pancreas screening (caps) consortium summit on the management of patients with increased risk for familial pancreatic cancer
    • Canto MI, Harinck F, Hruban RH, et al.; International Cancer of Pancreas Screening (CAPS) Consortium. International Cancer of the Pancreas Screening (CAPS) Consortium summit on the management of patients with increased risk for familial pancreatic cancer. Gut 2013;62:339-347.
    • (2013) Gut , vol.62 , pp. 339-347
    • Canto, M.I.1    Harinck, F.2    Hruban, R.H.3
  • 4
    • 84871715774 scopus 로고    scopus 로고
    • Identifying people at a high risk of developing pancreatic cancer
    • Klein AP. Identifying people at a high risk of developing pancreatic cancer. Nat Rev Cancer 2013;13:66-74.
    • (2013) Nat Rev Cancer , vol.13 , pp. 66-74
    • Klein, A.P.1
  • 5
    • 83455242881 scopus 로고    scopus 로고
    • Genetic susceptibility to pancreatic cancer
    • Klein AP. Genetic susceptibility to pancreatic cancer. Mol Carcinog 2012;51:14-24.
    • (2012) Mol Carcinog , vol.51 , pp. 14-24
    • Klein, A.P.1
  • 6
    • 0037130887 scopus 로고    scopus 로고
    • Cancer Incidence in BRCA1 mutation carriers
    • Thompson D, Easton DF; Breast Cancer Linkage Consortium. Cancer Incidence in BRCA1 mutation carriers. J Natl Cancer Inst 2002;94:1358-1365.
    • (2002) J Natl Cancer Inst , vol.94 , pp. 1358-1365
    • Thompson, D.1    Easton, D.F.2
  • 7
    • 0033523268 scopus 로고    scopus 로고
    • Cancer risks in BRCA2 mutation carriers
    • Breast Cancer Linkage Consortium
    • Breast Cancer Linkage Consortium. Cancer risks in BRCA2 mutation carriers. J Natl Cancer Inst 1999;91:1310-1316.
    • (1999) J Natl Cancer Inst , vol.91 , pp. 1310-1316
  • 8
    • 15744394400 scopus 로고    scopus 로고
    • BRCA1 and pancreatic cancer: Pedigree findings and their causal relationships
    • Lynch HT, Deters CA, Snyder CL, et al. BRCA1 and pancreatic cancer: pedigree findings and their causal relationships. Cancer Genet Cytogenet 2005;158:119-125.
    • (2005) Cancer Genet Cytogenet , vol.158 , pp. 119-125
    • Lynch, H.T.1    Deters, C.A.2    Snyder, C.L.3
  • 9
    • 84870802792 scopus 로고    scopus 로고
    • The incidence of pancreatic cancer in BRCA1 and BRCA2 mutation carriers
    • Hereditary Breast Cancer Study Group
    • Iqbal J, Ragone A, Lubinski J, et al.; Hereditary Breast Cancer Study Group. The incidence of pancreatic cancer in BRCA1 and BRCA2 mutation carriers. Br J Cancer 2012;107:2005-2009.
    • (2012) Br J Cancer , vol.107 , pp. 2005-2009
    • Iqbal, J.1    Ragone, A.2    Lubinski, J.3
  • 10
    • 84902547138 scopus 로고    scopus 로고
    • BRCA1 and BRCA2 germline mutations are frequently demonstrated in both high-risk pancreatic cancer screening and pancreatic cancer cohorts
    • Lucas AL, Frado LE, Hwang C, et al. BRCA1 and BRCA2 germline mutations are frequently demonstrated in both high-risk pancreatic cancer screening and pancreatic cancer cohorts. Cancer 2014;120:1960-1967.
    • (2014) Cancer , vol.120 , pp. 1960-1967
    • Lucas, A.L.1    Frado, L.E.2    Hwang, C.3
  • 11
    • 53749102277 scopus 로고    scopus 로고
    • Germline BRCA1 mutations predispose to pancreatic adenocarcinoma
    • Al-Sukhni W, Rothenmund H, Borgida AE, et al. Germline BRCA1 mutations predispose to pancreatic adenocarcinoma. Hum Genet 2008;124:271-278.
    • (2008) Hum Genet , vol.124 , pp. 271-278
    • Al-Sukhni, W.1    Rothenmund, H.2    Borgida, A.E.3
  • 12
    • 0034650411 scopus 로고    scopus 로고
    • Inherited predisposition to pancreatic adenocarcinoma: Role of family history and germ-line p16, BRCA1, and BRCA2 mutations
    • Lal G, Liu G, Schmocker B, et al. Inherited predisposition to pancreatic adenocarcinoma: role of family history and germ-line p16, BRCA1, and BRCA2 mutations. Cancer Res 2000;60:409-416.
    • (2000) Cancer Res , vol.60 , pp. 409-416
    • Lal, G.1    Liu, G.2    Schmocker, B.3
  • 13
    • 58749112549 scopus 로고    scopus 로고
    • Absence of germline BRCA1 mutations in familial pancreatic cancer patients
    • Axilbund JE, Argani P, Kamiyama M, et al. Absence of germline BRCA1 mutations in familial pancreatic cancer patients. Cancer Biol Ther 2009;8:131-135.
    • (2009) Cancer Biol Ther , vol.8 , pp. 131-135
    • Axilbund, J.E.1    Argani, P.2    Kamiyama, M.3
  • 14
    • 0036644884 scopus 로고    scopus 로고
    • Evaluation of candidate genes MAP2K4, MADH4, ACVR1B, and BRCA2 in familial pancreatic cancer: Deleterious BRCA2 mutations in 17%
    • Murphy KM, Brune KA, Griffin C, et al. Evaluation of candidate genes MAP2K4, MADH4, ACVR1B, and BRCA2 in familial pancreatic cancer: deleterious BRCA2 mutations in 17%. Cancer Res 2002;62:3789-3793.
    • (2002) Cancer Res , vol.62 , pp. 3789-3793
    • Murphy, K.M.1    Brune, K.A.2    Griffin, C.3
  • 16
    • 84855518614 scopus 로고    scopus 로고
    • Prevalence of BRCA1 and BRCA2 mutations in Ashkenazi Jewish families with breast and pancreatic cancer
    • Stadler ZK, Salo-Mullen E, Patil SM, et al. Prevalence of BRCA1 and BRCA2 mutations in Ashkenazi Jewish families with breast and pancreatic cancer. Cancer 2012;118:493-499.
    • (2012) Cancer , vol.118 , pp. 493-499
    • Stadler, Z.K.1    Salo-Mullen, E.2    Patil, S.M.3
  • 17
    • 84879847053 scopus 로고    scopus 로고
    • High prevalence of BRCA1 and BRCA2 germline mutations with loss of heterozygosity in a series of resected pancreatic adenocarcinoma and other neoplastic lesions
    • Lucas AL, Shakya R, Lipsyc MD, et al. High prevalence of BRCA1 and BRCA2 germline mutations with loss of heterozygosity in a series of resected pancreatic adenocarcinoma and other neoplastic lesions. Clin Cancer Res 2013;19:3396-3403.
    • (2013) Clin Cancer Res , vol.19 , pp. 3396-3403
    • Lucas, A.L.1    Shakya, R.2    Lipsyc, M.D.3
  • 18
    • 79951887369 scopus 로고    scopus 로고
    • Therapeutic potential of poly(ADP-ribose) polymerase inhibitor AG014699 in human cancers with mutated or methylated BRCA1 or BRCA2
    • Drew Y, Mulligan EA, Vong WT, et al. Therapeutic potential of poly(ADP-ribose) polymerase inhibitor AG014699 in human cancers with mutated or methylated BRCA1 or BRCA2. J Natl Cancer Inst 2011;103:334-346.
    • (2011) J Natl Cancer Inst , vol.103 , pp. 334-346
    • Drew, Y.1    Mulligan, E.A.2    Vong, W.T.3
  • 19
    • 80054820265 scopus 로고    scopus 로고
    • An emerging entity: Pancreatic adenocarcinoma associated with a known BRCA mutation: Clinical descriptors, treatment implications, and future directions
    • Lowery MA, Kelsen DP, Stadler ZK, et al. An emerging entity: pancreatic adenocarcinoma associated with a known BRCA mutation: clinical descriptors, treatment implications, and future directions. Oncologist 2011;16:1397-1402.
    • (2011) Oncologist , vol.16 , pp. 1397-1402
    • Lowery, M.A.1    Kelsen, D.P.2    Stadler, Z.K.3
  • 20
    • 33745200945 scopus 로고    scopus 로고
    • Control of BRCA2 cellular and clinical functions by a nuclear partner, PALB2
    • Xia B, Sheng Q, Nakanishi K, et al. Control of BRCA2 cellular and clinical functions by a nuclear partner, PALB2. Mol Cell 2006;22:719-729.
    • (2006) Mol Cell , vol.22 , pp. 719-729
    • Xia, B.1    Sheng, Q.2    Nakanishi, K.3
  • 21
    • 33846601829 scopus 로고    scopus 로고
    • Fanconi anemia is associated with a defect in the BRCA2 partner PALB2
    • Xia B, Dorsman JC, Ameziane N, et al. Fanconi anemia is associated with a defect in the BRCA2 partner PALB2. Nat Genet 2007;39:159-161.
    • (2007) Nat Genet , vol.39 , pp. 159-161
    • Xia, B.1    Dorsman, J.C.2    Ameziane, N.3
  • 22
    • 64849092309 scopus 로고    scopus 로고
    • Exomic sequencing identifies PALB2 as a pancreatic cancer susceptibility gene
    • Jones S, Hruban RH, Kamiyama M, et al. Exomic sequencing identifies PALB2 as a pancreatic cancer susceptibility gene. Science 2009;324:217.
    • (2009) Science , vol.324 , pp. 217
    • Jones, S.1    Hruban, R.H.2    Kamiyama, M.3
  • 23
    • 77957333720 scopus 로고    scopus 로고
    • PALB2 mutations in European familial pancreatic cancer families
    • Slater EP, Langer P, Niemczyk E, et al. PALB2 mutations in European familial pancreatic cancer families. Clin Genet 2010;78:490-494.
    • (2010) Clin Genet , vol.78 , pp. 490-494
    • Slater, E.P.1    Langer, P.2    Niemczyk, E.3
  • 24
    • 84859908346 scopus 로고    scopus 로고
    • Routine testing for PALB2 mutations in familial pancreatic cancer families and breast cancer families with pancreatic cancer is not indicated
    • Harinck F, Kluijt I, van Mil SE, et al. Routine testing for PALB2 mutations in familial pancreatic cancer families and breast cancer families with pancreatic cancer is not indicated. Eur J Hum Genet 2012;20:577-579.
    • (2012) Eur J Hum Genet , vol.20 , pp. 577-579
    • Harinck, F.1    Kluijt, I.2    Van Mil, S.E.3
  • 25
    • 84901046440 scopus 로고    scopus 로고
    • Exome sequencing identifies nonsegregating nonsense ATM and PALB2 variants in familial pancreatic cancer
    • Grant RC, Al-Sukhni W, Borgida AE, et al. Exome sequencing identifies nonsegregating nonsense ATM and PALB2 variants in familial pancreatic cancer. Hum Genomics 2013;7:11.
    • (2013) Hum Genomics , vol.7 , pp. 11
    • Grant, R.C.1    Al-Sukhni, W.2    Borgida, A.E.3
  • 26
    • 0029129816 scopus 로고
    • Increased risk of pancreatic cancer in melanoma-prone kindreds with p16INK4 mutations
    • Goldstein AM, Fraser MC, Struewing JP, et al. Increased risk of pancreatic cancer in melanoma-prone kindreds with p16INK4 mutations. N Engl J Med 1995;333:970-974.
    • (1995) N Engl J Med , vol.333 , pp. 970-974
    • Goldstein, A.M.1    Fraser, M.C.2    Struewing, J.P.3
  • 27
    • 0036895738 scopus 로고    scopus 로고
    • CDKN2A germline mutations in familial pancreatic cancer
    • Bartsch DK, Sina-Frey M, Lang S, et al. CDKN2A germline mutations in familial pancreatic cancer. Ann Surg 2002;236:730-737.
    • (2002) Ann Surg , vol.236 , pp. 730-737
    • Bartsch, D.K.1    Sina-Frey, M.2    Lang, S.3
  • 28
    • 84864107713 scopus 로고    scopus 로고
    • Indication for CDKN2A-mutation analysis in familial pancreatic cancer families without melanomas
    • Harinck F, Kluijt I, van der Stoep N, et al. Indication for CDKN2A-mutation analysis in familial pancreatic cancer families without melanomas. J Med Genet 2012;49:362-365.
    • (2012) J Med Genet , vol.49 , pp. 362-365
    • Harinck, F.1    Kluijt, I.2    Van Der Stoep, N.3
  • 29
    • 79952742260 scopus 로고    scopus 로고
    • Prevalence of CDKN2A mutations in pancreatic cancer patients: Implications for genetic counseling
    • McWilliams RR, Wieben ED, Rabe KG, et al. Prevalence of CDKN2A mutations in pancreatic cancer patients: implications for genetic counseling. Eur J Hum Genet 2011;19:472-478.
    • (2011) Eur J Hum Genet , vol.19 , pp. 472-478
    • McWilliams, R.R.1    Wieben, E.D.2    Rabe, K.G.3
  • 31
    • 0037087536 scopus 로고    scopus 로고
    • Clinical characteristics of individuals with germline mutations in BRCA1 and BRCA2: Analysis of 10,000 individuals
    • Frank TS, Deffenbaugh AM, Reid JE, et al. Clinical characteristics of individuals with germline mutations in BRCA1 and BRCA2: analysis of 10,000 individuals. J Clin Oncol 2002;20:1480-1490.
    • (2002) J Clin Oncol , vol.20 , pp. 1480-1490
    • Frank, T.S.1    Deffenbaugh, A.M.2    Reid, J.E.3
  • 32
    • 21144436491 scopus 로고    scopus 로고
    • Prevalence of five previously reported and recurrent BRCA1 genetic rearrangement mutations in 20,000 patients from hereditary breast/ovarian cancer families
    • Hendrickson BC, Judkins T, Ward BD, et al. Prevalence of five previously reported and recurrent BRCA1 genetic rearrangement mutations in 20,000 patients from hereditary breast/ovarian cancer families. Genes Chromosomes Cancer 2005;43:309-313.
    • (2005) Genes Chromosomes Cancer , vol.43 , pp. 309-313
    • Hendrickson, B.C.1    Judkins, T.2    Ward, B.D.3
  • 33
    • 84867884099 scopus 로고    scopus 로고
    • Clinical significance of large rearrangements in BRCA1 and BRCA2
    • Judkins T, Rosenthal E, Arnell C, et al. Clinical significance of large rearrangements in BRCA1 and BRCA2. Cancer 2012;118:5210-5216.
    • (2012) Cancer , vol.118 , pp. 5210-5216
    • Judkins, T.1    Rosenthal, E.2    Arnell, C.3
  • 34
    • 42149139456 scopus 로고    scopus 로고
    • ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007
    • Richards CS, Bale S, Bellissimo DB, et al. ACMG recommendations for standards for interpretation and reporting of sequence variations: revisions 2007. Genet Med 2008;10:294-300.
    • (2008) Genet Med , vol.10 , pp. 294-300
    • Richards, C.S.1    Bale, S.2    Bellissimo, D.B.3
  • 35
    • 70349331578 scopus 로고    scopus 로고
    • Polymorphic variants in hereditary pancreatic cancer genes are not associated with pancreatic cancer risk
    • McWilliams RR, Bamlet WR, de Andrade M, et al. Polymorphic variants in hereditary pancreatic cancer genes are not associated with pancreatic cancer risk. Cancer Epidemiol Biomarkers Prev 2009;18:2549-2552.
    • (2009) Cancer Epidemiol Biomarkers Prev , vol.18 , pp. 2549-2552
    • McWilliams, R.R.1    Bamlet, W.R.2    De Andrade, M.3
  • 36
    • 11144353646 scopus 로고    scopus 로고
    • Prospective risk of pancreatic cancer in familial pancreatic cancer kindreds
    • Klein AP, Brune KA, Petersen GM, et al. Prospective risk of pancreatic cancer in familial pancreatic cancer kindreds. Cancer Res 2004;64:2634-2638.
    • (2004) Cancer Res , vol.64 , pp. 2634-2638
    • Klein, A.P.1    Brune, K.A.2    Petersen, G.M.3
  • 37
    • 70349318044 scopus 로고    scopus 로고
    • Five years of prospective screening of high-risk individuals from families with familial pancreatic cancer
    • Langer P, Kann PH, Fendrich V, et al. Five years of prospective screening of high-risk individuals from families with familial pancreatic cancer. Gut 2009;58:1410-1418.
    • (2009) Gut , vol.58 , pp. 1410-1418
    • Langer, P.1    Kann, P.H.2    Fendrich, V.3
  • 38
    • 77958068748 scopus 로고    scopus 로고
    • Pancreatic cancer screening in a prospective cohort of high-risk patients: A comprehensive strategy of imaging and genetics
    • Verna EC, Hwang C, Stevens PD, et al. Pancreatic cancer screening in a prospective cohort of high-risk patients: a comprehensive strategy of imaging and genetics. Clin Cancer Res 2010;16:5028-5037.
    • (2010) Clin Cancer Res , vol.16 , pp. 5028-5037
    • Verna, E.C.1    Hwang, C.2    Stevens, P.D.3
  • 39
    • 12644253827 scopus 로고    scopus 로고
    • Germline BRCA2 gene mutations in patients with apparently sporadic pancreatic carcinomas
    • Goggins M, Schutte M, Lu J, et al. Germline BRCA2 gene mutations in patients with apparently sporadic pancreatic carcinomas. Cancer Res 1996;56: 5360-5364.
    • (1996) Cancer Res , vol.56 , pp. 5360-5364
    • Goggins, M.1    Schutte, M.2    Lu, J.3
  • 40
    • 84903955049 scopus 로고    scopus 로고
    • The early detection of pancreatic cancer: What will it take to diagnose and treat curable pancreatic neoplasia
    • Lennon AM, Wolfgang CL, Canto MI, et al. The early detection of pancreatic cancer: what will it take to diagnose and treat curable pancreatic neoplasia Cancer Res 2014;74:3381-3389.
    • (2014) Cancer Res , vol.74 , pp. 3381-3389
    • Lennon, A.M.1    Wolfgang, C.L.2    Canto, M.I.3


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