PL EN


Preferences help
enabled [disable] Abstract
Number of results
2002 | 49 | 3 | 571-581
Article title

Molecular basis of inherited predispositions for tumors*

Content
Title variants
Languages of publication
EN
Abstracts
EN
On the basis of literature data and own experience the authors review the current knowledge about the molecular basis of inherited predispositions for tumors. They hypothesize that in the near perspective 5-10 years studies using existing registry data/material and the latest novel technology will allow the identification of the molecular background for the majority of hereditary cancers which will have enormous practical consequences especially for the prevention of malignancies.
Keywords
Publisher

Year
Volume
49
Issue
3
Pages
571-581
Physical description
Dates
published
2002
received
2002-04-22
revised
2002-07-16
accepted
2002-08-25
Contributors
author
  • Hereditary Cancer Centre, Department of Genetics and Pathology, Pomeranian Academy of Medicine, Szczecin, Poland
  • Hereditary Cancer Centre, Department of Genetics and Pathology, Pomeranian Academy of Medicine, Szczecin, Poland
  • Hereditary Cancer Centre, Department of Genetics and Pathology, Pomeranian Academy of Medicine, Szczecin, Poland
  • Hereditary Cancer Centre, Department of Genetics and Pathology, Pomeranian Academy of Medicine, Szczecin, Poland
  • Hereditary Cancer Centre, Department of Genetics and Pathology, Pomeranian Academy of Medicine, Szczecin, Poland
author
  • Hereditary Cancer Centre, Department of Genetics and Pathology, Pomeranian Academy of Medicine, Szczecin, Poland
  • Hereditary Cancer Centre, Department of Genetics and Pathology, Pomeranian Academy of Medicine, Szczecin, Poland
author
  • Inter-University Unit of Molecular Biology, University of Szczecin and Pomeranian Academy of Medicine, Szczecin, Poland
author
  • Inter-University Unit of Molecular Biology, University of Szczecin and Pomeranian Academy of Medicine, Szczecin, Poland
author
  • Inter-University Unit of Molecular Biology, University of Szczecin and Pomeranian Academy of Medicine, Szczecin, Poland
References
  • Anderson TI, Wooster R, Laake K, Collins N, Warren W, Skrede M, Elles R, Tveit KM, Johnston SR, Dowsett M, Olsen AO, Moller P, Stratton MR, Borresen-Dale AL. (1997) Screening for ESR mutations in breast and ovarian cancer patients. Hum Mutat.; 9: 531-6.
  • Bala S, Peltomaki P. (2001) CYCLIN D1 as a genetic modifier in hereditary nonpolyposis colorectal cancer. Cancer Res.; 61: 6042-5.
  • Bell DW, Varley JM, Szydlo TE, Kang DH, Wahrer DC, Shannon KE, Lubratovich M, Verselis SJ, Isselbacher KJ, Fraumeni JF, Birch JM, Li FP, Garber JE, Haber DA. (1999) Heterozygous germ line hCHK2 mutations in Li-Fraumeni syndrome. Science.; 286: 2528-31.
  • Berends MJ, Wu Y, Sijmons RH, Mensink RG, van der Sluis T, Hordijk-Hos JM, de Vries EG, Hollema H, Karrenbeld A, Buys CH, van der Zee AG, Hofstra RM, Kleibeuker JH. (2002) Molecular and clinical characteristics of MSH6 variants: an analysis of 25 index carriers of a germline variant. Am J Hum Genet.; 70: 26-37.
  • Broeks A, Urbanus JH, Floore AN, Dahler E, Klijn JG, Rutgers EJ, Devilee P, Russell NS, van Leeuwen FE, van't Veer LJ. (2000) ATM-heterozygous germline mutations contribute to breast cancer-susceptibility. Am J Hum Genet.; 66: 494-500.
  • Chenevix-Trench G, Spurdle AB, Gatei M, Kelly H, Marsh A, Chen X, Donn K, Cummings M, Nyholt D, Jenkins MA, Scott C, Pupo GM, Dork T, Bendix R, Kirk J, Tucker K, McCredie MR, Hopper JL, Sambrook J, Mann GJ, Khanna KK. (2002) Dominant negative ATM mutations in breast cancer families. J Natl Cancer Inst.; 94: 205-15.
  • Cybulski C, Krzystolik K, Lubinski J. (1999) Human gene mutations. Gene symbol: VHL. Disease: von Hippel-Lindau syndrome. Hum Genet.; 104: 194.
  • Deng CX, Brodie SG. (2000) Roles of BRCA1 and its interacting proteins. BioEssays.; 22: 728-37.
  • de los Rios P, Jack E, Kuperstein G, Lynch H, Lubinski J, Narod SA. (2001) Founder mutations of BRCA1 and BRCA2 in North American families of Polish origin that are affected with breast cancer. Am J Hum Genet.; 68: 546.
  • De Vivo I, Gertig DM, Nagase S, Hankinson SE, O'Brien R, Speizer FE, Parsons R, Hunter DJ. (2000) Novel germline mutations in the PTEN tumour suppressor gene found in women with multiple cancers. J Med Genet.; 37: 336-41.
  • De Rosa M, Fasano C, Panariello L, Scarano MI, Belli G, Iannelli A, Ciciliano F, Izzo P. (2000) Evidence for a recessive inheritance of Turcot's syndrome caused by compound heterozygous mutations within the PMS2 gene. Oncogene.; 19: 1719-23.
  • Debniak T, Gorski B, Cybulski C, Jakubowska A, Kurzawski G, Kladny J, Lubinski J. (2001) Comparison of Alu-PCR, microsatellite instability and immunohistochemical analyses in finding features characteristic for hereditary nonpolyposis colorectal cancer. J Cancer Res Clin Oncol.; 127: 565-9.
  • Futaki M, Liu JM. (2001) Chromosomal breakage syndromes and the BRCA1 genome surveillance complex. Trends Mol Med.; 7: 560-5.
  • Ghimenti C, Sensi E, Presciuttini S, Brunetti IM, Conte P, Bevilacqua G, Caligo MA. (2002) Germline mutations of the BRCA1-associated ring domain (BARD1) gene in breast and breast/ovarian families negative for BRCA1 and BRCA2 alterations. Genes Chromosomes Cancer.; 33: 235-42.
  • Gorski B, Byrski T, Huzarski T, Jakubowska A, Menkiszak J, Gronwald J, Pluzanska A, Bebenek M, Fischer-Maliszewska L, Grzybowska E, Narod SA, Lubinski J. (2000) Founder mutations in the BRCA1 gene in Polish families with breast-ovarian cancer. Am J Hum Genet.; 66: 1963-8.
  • Gorski B, Jakubowska A, Medrek K, Masojc B, Mierzejewski M, Byrski T, Huzarski T, Debniak T, Cybulski C, Menkiszak J, Gronwald J, Toloczko-Grabarek A, Zajaczek S, Stawicka M, Mackiewicz A, Bebenek M, Fiszer-Maliszewska L, Grzybowska E, Haus O, Janiszewska H, Niepsuj S, Gozdz S, Zaremba L, Soroko D, Pluzanska M, Kilar E, Czudowska D, Wasko B, Miturski R, Mielcarek, Urbanski K, Koc J, Rozmiarek A, Lubinski J. (2002) BRCA1/BRCA2 mutation spectrum in Polish families with strong aggregation of breast/ovarian cancers. Hereditary cancers - prophylactics, diagnostics, treatment. International Conference, Miedzyzdroje, Poland, May 2002: 36.
  • Guerrette S, Wilson T, Gradia S, Fishel R. (1998) Interactions of human hMSH2 with hMSH3 and hMSH2 with hMSH6: examination of mutations found in hereditary nonpolyposis colorectal cancer. Mol Cell Biol.; 18: 6616-23.
  • Guerrette S, Acharya S, Fishel R. (1999) The interaction of the human MutL homologues in hereditary nonpolyposis colon cancer. J Biol Chem.; 274: 6336-41.
  • Hes FJ, McKee S, Taphoorn MJ, Rehal P, van Der Luijt RB, McMahon R, van Der Smagt JJ, Dow D, Zewald RA, Whittaker J, Lips CJ, MacDonald F, Pearson PL, Maher ER. (2000) Cryptic von Hippel-Lindau disease: germline mutations in patients with haemangioblastoma only. J Med Genet.; 37: 939-43.
  • Howe JR, Roth S, Ringold JC, Summers RW, Jarvinen HJ, Sistonen P, Tomlinson IP, Houlston RS, Bevan S, Mitros FA, Stone EM, Aaltonen LA. (1998) Mutations in the SMAD4/DPC4 gene in juvenile polyposis. Science.; 280: 1086-8.
  • Huang J, Kuismanen SA, Liu T, Chadwick RB, Johnson CK, Stevens MW, Richards SK, Meek JE, Gao X, Wright FA, Mecklin JP, Jarvinen HJ, Gronberg H, Bisgaard ML, Lindblom A, Peltomaki P. (2001) MSH6 and MSH3 are rarely involved in genetic predisposition to nonpolypotic colon cancer. Cancer Res.; 61: 1619-23.
  • Jakubowska A, Gorski B, Byrski T, Huzarski T, Gronwald J, Menkiszak J, Cybulski C, Debniak T, Hadaczek P, Scott RJ, Lubinski J. (2001) Detection of germline mutations in the BRCA1 gene by RNA-based sequencing. Hum Mutat.; 18: 149-56.
  • Jakubowska A, Gorski B, Kurzawski G, Debniak T, Hadaczek P, Cybulski C, Kladny J, Oszurek O, Scott RJ, Lubinski J. (2001) Optimization of experimental conditions for RNA-based sequencing of MLH1 and MSH2 genes. Hum Mutat.; 17: 52-60.
  • Jakubowska A, Zajaczek S, Haus O, Limon J, Kostyk E, Krzystolik Z, Lubinski J. (2001) Novel RB1 gene constitutional mutations found in Polish patients with familial and/or bilateral retinoblastoma. Hum Mutat.; 18: 459.
  • Jakubowska A, Narod S, Goldgar D, Mierzejewski M, Masojc B, Nej K, Huzarska J, Byrski T, Gorski B, Lubinski J. (2002) Breast cancer risk reduction associated with the RAD51 polymorphism among carriers of the BRCA1 5382insC mutation in Poland. CEBP.; (in press).
  • Jensen DE, Proctor M, Marquis ST, Gardner HP, Ha SI, Chodosh LA, Ishov AM, Tommerup N, Vissing H, Sekido Y, Minna J, Borodovsky A, Schultz DC, Wilkinson KD, Maul GG, Barlev N, Berger SL, Prendergast GC, Rauscher FJ. (1998) 3rd. BAP1: a novel ubiquitin hydrolase which binds to the BRCA1 RING finger and enhances BRCA1-mediated cell growth suppression. Oncogene.; 16: 1097-112.
  • Kerr P, Ashworth A. (2001) New complexities for BRCA1 and BRCA2. Curr Biol.; 11: R668-76.
  • Kim IJ, Ku JL, Yoon KA, Heo SC, Jeong SY, Choi HS, Hong KH, Yang SK, Park JG. (2000) Germline mutations of the dpc4 gene in Korean juvenile polyposis patients . Int J Cancer.; 86: 529-32.
  • Kolodner RD, Marsischky GT. (1999) Eukaryotic DNA mismatch repair. Curr Opin Genet Dev.; 9: 89-96.
  • Kurzawski G, Kladny J, Debniak T, Lubinski J. (1999) Gene symbol: MLH1. Disease: colorectal cancer, non-polyposis. Hum Genet.; 105: 00-00.
  • Kurzawski G, Safranow K, Suchy J, Chlubek D, Scott RJ, Lubinski J. (2002) Mutation analysis of MLH1 and MSH2 genes performed by denaturing high-performance liquid chromatography. J Biochem Biophys Methods.; 51: 89-100.
  • Kurzawski G, Suchy J, Kladny J, Safranow K, Jakubowska A, Elsakov P, Kucinskas V, Gardovski J, Irmejs A, Sibul H, Huzarski T, Byrski T, Debniak T, Cybulski C, Gronwald J, Oszurek O, Clark J, Gozdz S, Niepsuj S, Slomski R, Plawski A, Lacka-Wojciechowska A, Rozmiarek A, Fiszer-Maliszewska L, Bebenek M, Sorokin D, Stawicka M, Godlewski D, Richter P, Brozek I, Wysocka B, Jawien A, Banaszkiewicz Z, Kowalczyk J, Czudowska D, Goretzki PE, Moeslein G, Lubinski J. (2002) Germline MSH2 and MLH1 mutational spectrum in HNPCC families from Poland and Baltic States. J Med. Genet.; (in press).
  • Levy-Lahad E, Lahad A, Eisenberg S, Dagan E, Paperna T, Kasinetz L, Catane R, Kaufman B, Beller U, Renbaum P, Gershoni-Baruch R. (2001) A single nucleotide polymorphism in the RAD51 gene modifies cancer risk in BRCA2 but not BRCA1 carriers. Proc Natl Acad Sci U S A.; 98: 3232-6.
  • Lichtenstein P, Holm NV, Verkasalo PK, Iliadou A, Kaprio J, Koskenvuo M, Pukkala E, Skytthe A, Hemminki K. (2000) Environmental and heritable factors in the causation of cancer - analyses of cohorts of twins from Sweden, Denmark, and Finland. N Engl J Med.; 343: 78-85.
  • Liu J, Yuan Y, Huan J, Shen Z. (2001) Inhibition of breast and brain cancer cell growth by BCCIPalpha, an evolutionarily conserved nuclear protein that interacts with BRCA2. Oncogene.; 20: 336-45.
  • Lu SL, Kawabata M, Imamura T, Akiyama Y, Nomizu T, Miyazono K, Yuasa Y. (1998) HNPCC associated with germline mutation in the TGF-beta type II receptor gene. Nat Genet.; 19: 17-8.
  • Lubinski J, Raczynski A, Tarhoni M, Blachowski M, Gronwald J, Huzarski T, Byrski T, Grabarek-Toloczko A, Cybulski C, Kurzawski G, Jakubowska A. (2002) Population screening for cancer family syndromes in West-Pomeranian Region of Poland with 1,7 mln of inhabitants. Int J Cancer (Suppl).; 13: 92.
  • Maillet P, Chappuis PO, Vaudan G, Dobbie Z, Muller H, Hutter P, Sappino AP. (2000) A polymorphism in the ATM gene modulates the penetrance of hereditary non-polyposis colorectal cancer. Int J Cancer.; 88: 928-31.
  • McKean-Cowdin R, Kolonel LN, Press MF, Pike MC, Henderson BE. (2001) Germ-line HER-2 variant and breast cancer risk by stage of disease. Cancer Res.; 61: 8393-4.
  • Menko FH, van der Luijt RB, de Valk IA, Toorians AW, Sepers JM, van Diest PJ, Lips CJ. (2002) Atypical MEN type 2B associated with two germline RET mutations on the same allele not involving codon 918. J Clin Endocrinol Metab.; 87: 393-7.
  • Olschwang S. (1999) Germline mutation and genome instability. Eur J Cancer Prev.; 8: Suppl 1, 33-7.
  • Park JG, Vasen HF, Park KJ, Peltomaki P, Ponz de Leon M, Rodriguez-Bigas MA, Lubinski J, Beck NE, Bisgaard ML, Miyaki M, Wijnen JT, Baba S, Lynch HT (1999) Suspected hereditary nonpolyposis colorectal cancer: International Collaborative Group on Hereditary Non-Polyposis Colorectal Cancer (ICG-HNPCC) criteria and results of genetic diagnosis. Dis Colon Rectum.; 42: 710-5.
  • Peltomaki P, Vasen HF, Bisgaard M, Buerstedde M, Friedl W, Grandjouan S, Hutter P, Kohonen-Corish M, Kolodner R, Kurzawski G, Lindblom A, Lynch HT, Piepoli A, Pons de Leon M, Radice P, Thibodeau S, Weber W, West S, Wijnen J. (1997) Mutations predisposing to hereditary nonpolyposis colorectal cancer: database and results of a collaborative study. The International Collaborative Group on Hereditary Nonpolyposis Colorectal Cancer. Gastroenterology.; 113: 1146-58.
  • Peltomaki P, Gao X, Mecklin JP. (2001) Genotype and phenotype in hereditary nonpolyposis colon cancer: a study of families with different vs. shared predisposing mutations. Familial Cancer.; 1: 9-15.
  • Rebbeck TR, Kantoff PW, Krithivas K, Neuhausen S, Blackwood MA, Godwin AK, Daly MB, Narod SA, Garber JE, Lynch HT, Weber BL, Brown M. (1999) Modification of BRCA1-associated breast cancer risk by the polymorphic androgen-receptor CAG repeat . Am J Hum Genet.; 64: 1371-7.
  • Rebbeck TR, Wang Y, Kantoff PW, Krithivas K, Neuhausen SL, Godwin AK, Daly MB, Narod SA, Brunet JS, Vesprini D, Garber JE, Lynch HT, Weber BL, Brown M. (2001) Modification of BRCA1- and BRCA2-associated breast cancer risk by AIB1 genotype and reproductive history. Cancer Res.; 61: 5420-4.
  • Rey JM, Brouillet JP, Fonteneau-Allaire J, Boneu A, Bastie D, Maudelonde T, Pujol P. (2001) Novel germline RET mutation segregating with papillary thyroid carcinomas. Genes Chromosomes Cancer.; 32: 390-1.
  • Salahshor S, Hou H, Diep CB, Loukola A, Zhang H, Liu T, Chen J, Iselius L, Rubio C, Lothe RA, Aaltonen L, Sun XF, Lindmark G, Lindblom A. (2001) A germline E-cadherin mutation in a family with gastric and colon cancer. Int J Mol Med.; 8: 439-43.
  • Schmutte C, Sadoff MM, Shim KS, Acharya S, Fishel R. (2001) The interaction of DNA mismatch repair proteins with human exonuclease I. J Biol Chem.; 276: 33011-8.
  • Suchy J, Kurzawski G, Jakubowska A, Lubinski J. (2002) Ovarian cancer of endometrioid type as a part of MSH6 gene mutation phenotype. J Hum Genet.; (in press).
  • Sullivan A, Yuille M, Repellin C, Reddy A, Reelfs O, Bell A, Dunne B, Gusterson BA, Osin P, Farrell PJ, Yulug I, Evans A, Ozcelik T, Gasco M, Crook T. (2002) Concomitant inactivation of p53 and Chk2 in breast cancer. Oncogene.; 21: 1316-24.
  • Teraoka SN, Malone KE, Doody DR, Suter NM, Ostrander EA, Daling JR, Concannon P. (2001) Increased frequency of ATM mutations in breast carcinoma patients with early onset disease and positive family history. Cancer.; 92: 479-87.
  • Wang Y, Cortez D, Yazdi P, Neff N, Elledge SJ, Qin J. (2000) BASC, a super complex of BRCA1-associated proteins involved in the recognition and repair of aberrant DNA structures. Genes Dev.; 14: 927-39.
  • Wang WW, Spurdle AB, Kolachana P, Bove B, Modan B, Ebbers SM, Suthers G, Tucker MA, Kaufman DJ, Doody MM, Tarone RE, Daly M, Levavi H, Pierce H, Chetrit A, Yechezkel GH, Chenevix-Trench G, Offit K, Godwin AK, Struewing JP. (2001) A single nucleotide polymorphism in the 5' untranslated region of RAD51 and risk of cancer among BRCA1/2 mutation carriers. Cancer Epidemiol Biomarkers Prev.; 10: 955-60.
  • Wang Q, Zhang H, Guerrette S, Chen J, Mazurek A, Wilson T, Slupianek A, Skorski T, Fishel R, Greene MI. (2001) Adenosine nucleotide modulates the physical interaction between hMSH2 and BRCA1. Oncogene.; 20: 4640-9.
  • Welcsh PL, Owens KN, King MC. (2000) Insights into the functions of BRCA1 and BRCA2. Trends Genet.; 16: 69-74.
  • Westerman AM, Entius MM, Boor PP, Koole R, de Baar E, Offerhaus GJ, Lubinski J, Lindhout D, Halley DJ, de Rooij FW, Wilson JH. (1999) Novel mutations in the LKB1/STK11 gene in Dutch Peutz-Jeghers families. Hum Mutat.; 13: 476-81.
  • Wu Y, Berends MJ, Post JG, Mensink RG, Verlind E, Van Der Sluis T, Kempinga C, Sijmons RH, van der Zee AG, Hollema H, Kleibeuker JH, Buys CH, Hofstra RM. (2001) Germline mutations of EXO1 gene in patients with hereditary nonpolyposis colorectal cancer (HNPCC) and atypical HNPCC forms. Gastroenterology.; 120: 1580-7.
  • Yoon K A, Ku JL, Choi HS, Heo SC, Jeong SY, Park YJ, Kim NK, Kim JC, Jung PM, Park JG. (2000) Germline mutations of the STK11 gene in Korean Peutz-Jeghers syndrome patients . Br J Cancer.; 82: 1403-6.
  • Yoshikawa K, Ogawa T, Baer R, Hemmi H, Honda K, Yamauchi A, Inamoto T, Ko K, Yazumi S, Motoda H, Kodama H, Noguchi S, Gazdar AF, Yamaoka Y, Takahashi R. (2000) Abnormal expression of BRCA1 and BRCA1-interactive DNA-repair proteins in breast carcinomas. Int J Cancer.; 88: 28-36.
  • Yuan ZQ, Gottlieb B, Beitel LK, Wong N, Gordon PH, Wang Q, Puisieux A, Foulkes WD, Trifiro M. (2002) Polymorphisms and HNPCC: PMS2-MLH1 protein interactions diminished by single nucleotide polymorphisms. Hum Mutat.; 19: 108-13.
  • Zajac V, Tomka M, Ilencikova D, Majek P, Stevurkova V, Kirchhoff T. (2000) A double germline mutations in the APC and p53 genes. Neoplasma.; 47: 335-41.
  • Zajaczek S, Jakubowska A, Gorski B, Kurzawski G, Krzystolik Z, Lubinski J. (1999) Frequency and nature of germline Rb-1 gene mutations in a series of patients with sporadic unilateral retinoblastoma. Eur J Cancer.; 35: 1824-7.
Document Type
Publication order reference
Identifiers
YADDA identifier
bwmeta1.element.bwnjournal-article-abpv49i3p571kz
JavaScript is turned off in your web browser. Turn it on to take full advantage of this site, then refresh the page.