ATM germline mutations in women with familial breast cancer and a relative with haematological malignancy

Breast Cancer Research and Treatment

Volumn 119, Issue 2, 2010, Pages 443-452

  Paglia, Laura La ^a,b   Laugé, Anthony ^a   Weber, Jérémie ^c   Champ, Jérôme ^a,c,d   Cavaciuti, Eve ^a,e,f   Russo, Antonio ^b   Viovy, Jean Louis ^a,d   Stoppa Lyonnet, Dominique ^a,g,h  

^a INSTITUT CURIE   (France)

^b UNIVERSITY OF PALERMO   (Italy)

^c Fluigent   (France)

^d INSTITUT CURIE   (France)

^e INSERM U900   (France)

^f PSL RESEARCH UNIVERSITY   (France)

^g INSTITUT CURIE   (France)

^h UNIVERSITÉ PARIS DESCARTES   (France)

Author keywords

Ataxia telangiectasia; ATM; BRCA1; BRCA2; Breast cancer; EMMA

Indexed keywords

ATM PROTEIN; BRCA1 PROTEIN; BRCA2 PROTEIN;

ADULT; ARTICLE; BREAST CANCER; CONTROLLED STUDY; FAMILIAL CANCER; FEMALE; GENE DELETION; GENE MUTATION; GENETIC SCREENING; GENETIC VARIABILITY; GERM LINE; HETEROZYGOTE; HUMAN; LEUKEMIA; LYMPHOMA; MAJOR CLINICAL STUDY; MUTATIONAL ANALYSIS; PRIORITY JOURNAL; RELATIVE;

EID: 74849120035     PISSN: 01676806     EISSN: 15737217     Source Type: Journal    
DOI: 10.1007/s10549-009-0396-z     Document Type: Article

References (33)

1. Collaborative group on hormonal factors in breast cancer 2001 Familial breast cancer: collaborative reanalysis of individual data from 52 epidemiological studies including 58, 209 women with breast cancer and 101, 986 women without the disease Lancet 358 9291 1389 1399 10.1016/S0140-6736(01)06524- 2 10.1016/S0140-6736(01)06524-2 (Pubitemid 33055739)
2. DF Easton 1999 How many more breast cancer predisposition genes are there? Breast Cancer Res 1 1 14 17 10.1186/bcr6 10.1186/bcr6 1:CAS:528:DC%2BD3cXlsFKgs7s%3D 11250676 (Pubitemid 32223529)
3. Y Shiloh 2003 ATM and related protein kinases: safeguarding genome integrity Nat Rev Cancer 3 3 155 168 10.1038/nrc1011 10.1038/nrc1011 1:CAS:528:DC%2BD3sXhsFGhtr4%3D 12612651 (Pubitemid 37328868)
4. MF Lavin 2008 Ataxia-telangiectasia: from a rare disorder to a paradigm for cell signalling and cancer Nat Rev Mol Cell Biol 9 10 759 769 10.1038/nrm2514 10.1038/nrm2514 1:CAS:528:DC%2BD1cXhtFGhsL3F 18813293
5. HH Chun RA Gatti 2004 Ataxia-telangiectasia, an evolving phenotype DNA Repair (Amst) 3 8-9 1187 1196 10.1016/j.dnarep.2004.04.010 10.1016/j.dnarep. 2004.04.010 1:CAS:528:DC%2BD2cXmtVeqtb8%3D (Pubitemid 38997962)
6. P Concannon RA Gatti 1997 Diversity of ATM gene mutations detected in patients with ataxia-telangiectasia Hum Mutat 10 2 100 107 10.1002/(SICI)1098- 1004(1997)10:2<100::AID-HUMU2>3.0.CO;2-O 10.1002/(SICI)1098-1004(1997)10: 2<100::AID-HUMU2>3.0.CO;2-O 1:CAS:528:DyaK2sXls1Srsbo%3D 9259193 (Pubitemid 27327484)
7. AM Taylor PJ Byrd 2005 Molecular pathology of ataxia telangiectasia J Clin Pathol 58 10 1009 1015 10.1136/jcp.2005.026062 10.1136/jcp.2005.026062 1:CAS:528:DC%2BD2MXhtFKjtbbL 16189143 (Pubitemid 41416047)
8. M Swift D Morrell RB Massey CL Chase 1991 Incidence of cancer in 161 families affected by ataxia-telangiectasia N Engl J Med 325 26 1831 1836 1:STN:280:DyaK38%2Fnt1KgsA%3D%3D 1961222
9. DF Easton 1994 Cancer risks in A-T heterozygotes Int J Radiat Biol 66 Suppl 6 S177 S182 10.1080/09553009414552011 10.1080/09553009414552011 1:CAS:528:DyaK2MXjtFOms7s%3D 7836845
10. N Janin N Andrieu K Ossian A Lauge MF Croquette C Griscelli M Debre B Bressac-de-Paillerets A Aurias D Stoppa-Lyonnet 1999 Breast cancer risk in ataxia telangiectasia (AT) heterozygotes: haplotype study in French AT families Br J Cancer 80 7 1042 1045 10.1038/sj.bjc.6690460 10.1038/sj.bjc.6690460 1:STN:280:DyaK1M3ovV2muw%3D%3D 10362113 (Pubitemid 29233926)
11. JH Olsen JM Hahnemann AL Borresen-Dale K Brondum-Nielsen L Hammarstrom R Kleinerman H Kaariainen T Lonnqvist R Sankila N Seersholm S Tretli J Yuen JD Boice M Tucker 2001 Cancer in patients with ataxia-telangiectasia and in their relatives in the nordic countries J Natl Cancer Inst 93 2 121 127 10.1093/jnci/93.2.121 10.1093/jnci/93.2.121 1:STN:280:DC%2BD3M7nvF2ltw%3D%3D 11208881
12. D Thompson S Duedal J Kirner L McGuffog J Last A Reiman P Byrd M Taylor DF Easton 2005 Cancer risks and mortality in heterozygous ATM mutation carriers J Natl Cancer Inst 97 11 813 822 1:CAS:528:DC%2BD2MXkvVShtbc%3D 15928302
13. M Ahmed N Rahman 2006 ATM and breast cancer susceptibility Oncogene 25 43 5906 5911 10.1038/sj.onc.1209873 10.1038/sj.onc.1209873 1:CAS:528: DC%2BD28XhtVSgurvF 16998505 (Pubitemid 44453446)
14. A Renwick D Thompson S Seal P Kelly T Chagtai M Ahmed B North H Jayatilake R Barfoot K Spanova L McGuffog DG Evans D Eccles DF Easton MR Stratton N Rahman 2006 ATM mutations that cause ataxia-telangiectasia are breast cancer susceptibility alleles Nat Genet 38 8 873 875 10.1038/ng1837 10.1038/ng1837 1:CAS:528:DC%2BD28XnsVChu7Y%3D 16832357 (Pubitemid 44141653)
15. AM Taylor JA Metcalfe J Thick YF Mak 1996 Leukemia and lymphoma in ataxia telangiectasia Blood 87 2 423 438 1:CAS:528:DyaK28XkvFSktg%3D%3D 8555463
16. I Vorechovsky L Luo MJ Dyer D Catovsky PL Amlot JC Yaxley L Foroni L Hammarstrom AD Webster MA Yuille 1997 Clustering of missense mutations in the ataxia-telangiectasia gene in a sporadic T-cell leukaemia Nat Genet 17 1 96 99 10.1038/ng0997-96 10.1038/ng0997-96 1:CAS:528:DyaK2sXlvVGgsrk%3D 9288106 (Pubitemid 27377540)
17. S Stilgenbauer C Schaffner A Litterst P Liebisch S Gilad A Bar-Shira MR James P Lichter H Dohner 1997 Biallelic mutations in the ATM gene in T-prolymphocytic leukemia Nat Med 3 10 1155 1159 10.1038/nm1097-1155 10.1038/nm1097-1155 1:CAS:528:DyaK2sXmsF2gsbk%3D 9334731 (Pubitemid 27444461)
18. D Stoppa-Lyonnet J Soulier A Lauge H Dastot R Garand F Sigaux MH Stern 1998 Inactivation of the ATM gene in T-cell prolymphocytic leukemias Blood 91 10 3920 3926 1:CAS:528:DyaK1cXjtFertr0%3D 9573030
19. T Stankovic P Weber G Stewart T Bedenham J Murray PJ Byrd PA Moss AM Taylor 1999 Inactivation of ataxia telangiectasia mutated gene in B-cell chronic lymphocytic leukaemia Lancet 353 9146 26 29 10.1016/S0140-6736(98)10117-4 10.1016/S0140-6736(98)10117-4 1:CAS:528:DyaK1MXmtVartQ%3D%3D 10023947 (Pubitemid 29037699)
20. F Bullrich D Rasio S Kitada P Starostik T Kipps M Keating M Albitar JC Reed CM Croce 1999 ATM mutations in B-cell chronic lymphocytic leukemia Cancer Res 59 1 24 27 1:CAS:528:DyaK1MXmsFKquw%3D%3D 9892178
21. E Camacho L Hernandez S Hernandez F Tort B Bellosillo S Bea F Bosch E Montserrat A Cardesa PL Fernandez E Campo 2002 ATM gene inactivation in mantle cell lymphoma mainly occurs by truncating mutations and missense mutations involving the phosphatidylinositol-3 kinase domain and is associated with increasing numbers of chromosomal imbalances Blood 99 1 238 244 10.1182/blood.V99.1.238 10.1182/blood.V99.1.238 1:CAS:528:DC%2BD38XivF2huw%3D%3D 11756177 (Pubitemid 34532989)
22. F Gumy-Pause P Wacker P Maillet DR Betts AP Sappino 2006 ATM alterations in childhood non-Hodgkin lymphoma Cancer Genet Cytogenet 166 2 101 111 10.1016/j.cancergencyto.2005.09.005 10.1016/j.cancergencyto.2005.09.005 1:CAS:528:DC%2BD28XjvVWqt78%3D 16631465
23. E Liberzon S Avigad B Stark J Zilberstein L Freedman M Gorfine H Gavriel IJ Cohen Y Goshen I Yaniv R Zaizov 2004 Germ-line ATM gene alterations are associated with susceptibility to sporadic T-cell acute lymphoblastic leukemia in children Genes Chromosomes Cancer 39 2 161 166 10.1002/gcc.10306 10.1002/gcc.10306 1:CAS:528:DC%2BD2cXjtVWqtrk%3D 14695997 (Pubitemid 38056090)
24. B Geoffroy-Perez N Janin K Ossian A Lauge MF Croquette C Griscelli M Debre B Bressac-de-Paillerets A Aurias D Stoppa-Lyonnet N Andrieu 2001 Cancer risk in heterozygotes for ataxia-telangiectasia Int J Cancer 93 2 288 293 10.1002/ijc.1329 10.1002/ijc.1329 1:STN:280:DC%2BD3MzkslCitQ%3D%3D 11410879 (Pubitemid 32574287)
25. MB Johns Jr JE Paulus-Thomas 1989 Purification of human genomic DNA from whole blood using sodium perchlorate in place of phenol Anal Biochem 180 2 276 278 10.1016/0003-2697(89)90430-2 10.1016/0003-2697(89)90430-2 1:CAS:528:DyaL1MXlsV2qs7s%3D 2554754
26. J Weber V Barbier S Pages-Berhouet V Caux-Moncoutier D Stoppa-Lyonnet JL Viovy 2004 A high-throughput mutation detection method based on heteroduplex analysis using graft copolymer matrixes: application to Brca1 and Brca2 analysis Anal Chem 76 16 4839 4848 10.1021/ac049878p 10.1021/ac049878p 1:CAS:528:DC%2BD2cXlslersrY%3D 15307796 (Pubitemid 39079481)
27. J Weber R Looten C Houdayer D Stoppa-Lyonnet JL Viovy 2006 Improving sensitivity of electrophoretic heteroduplex analysis using nucleosides as additives: application to the breast cancer predisposition gene BRCA2 Electrophoresis 27 8 1444 1452 10.1002/elps.200500797 10.1002/elps.200500797 1:CAS:528:DC%2BD28XkslOltLg%3D 16550498
28. J Weber S Miserere J Champ R Looten D Stoppa-Lyonnet JL Viovy C Houdayer 2007 High-throughput simultaneous detection of point mutations and large-scale rearrangements by CE Electrophoresis 28 23 4282 4288 10.1002/elps.200700010 10.1002/elps.200700010 1:CAS:528:DC%2BD1cXksFKlsg%3D%3D 17990260 (Pubitemid 350259029)
29. C Houdayer M Gauthier-Villars A Lauge S Pages-Berhouet C Dehainault V Caux-Moncoutier P Karczynski M Tosi F Doz L Desjardins J Couturier D Stoppa-Lyonnet 2004 Comprehensive screening for constitutional RB1 mutations by DHPLC and QMPSF Hum Mutat 23 2 193 202 10.1002/humu.10303 10.1002/humu.10303 1:CAS:528:DC%2BD2cXhs1Gqs7c%3D 14722923 (Pubitemid 38200610)
30. C Houdayer C Dehainault C Mattler D Michaux V Caux-Moncoutier S Pages-Berhouet CD d'Enghien A Lauge L Castera M Gauthier-Villars D Stoppa-Lyonnet 2008 Evaluation of in silico splice tools for decision-making in molecular diagnosis Hum Mutat 29 7 975 982 10.1002/humu.20765 10.1002/humu.20765 1:CAS:528:DC%2BD1cXpt1Ort74%3D 18449911 (Pubitemid 351951292)
31. SV Tavtigian PB Samollow D de Silva A Thomas 2006 An analysis of unclassified missense substitutions in human BRCA1 Fam Cancer 5 1 77 88 10.1007/s10689-005-2578-0 10.1007/s10689-005-2578-0 1:CAS:528: DC%2BD28Xit1Kqsr8%3D 16528611 (Pubitemid 43384322)
32. SV Tavtigian MS Greenblatt F Lesueur GB Byrnes 2008 In silico analysis of missense substitutions using sequence-alignment based methods Hum Mutat 29 11 1327 1336 10.1002/humu.20892 10.1002/humu.20892 1:CAS:528:DC%2BD1cXhsFSjsLnL 18951440
33. B Austen A Skowronska C Baker JE Powell A Gardiner D Oscier A Majid M Dyer R Siebert AM Taylor PA Moss T Stankovic 2007 Mutation status of the residual ATM allele is an important determinant of the cellular response to chemotherapy and survival in patients with chronic lymphocytic leukemia containing an 11q deletion J Clin Oncol 25 34 5448 5457 10.1200/JCO.2007.11.2649 10.1200/JCO.2007.11.2649 1:CAS:528:DC%2BD1cXnvVCiuw%3D%3D 17968022 (Pubitemid 350232222)