Erratum: The BRCA2 c.9004G>A (E3002K) variant is likely pathogenic and recurs in breast and/or ovarian cancer families of French Canadian descent (Breast Cancer Research and Treatment DOI:10.1007/s10549-011-1796-4);The BRCA2 c.9004G>A (E2003K) variant is likely pathogenic and recurs in breast and/or ovarian cancer families of French Canadian descent

Breast Cancer Research and Treatment

Volumn 131, Issue 1, 2012, Pages 333-340

  Cote, Stephanie ^a,b   Arcand, Suzanna L ^c   Royer, Robert ^d   Nolet, Serge ^a,b   Mes Masson, Anne Marie ^b,e   Ghadirian, Parviz ^a   Foulkes, William D ^c,f,g   Tischkowitz, Marc ^f,g   Narod, Steven A ^d   Provencher, Diane ^b,e   Tonin, Patricia N ^c,f,h  

^a CENTRE HOSPITALIER DE L UNIVERSITÉ DE MONTRÉAL   (Canada)

^b UNIVERSITÉ DE MONTRÉAL   (Canada)

^c MCGILL UNIVERSITY HEALTH CENTRE   (Canada)

^d UNIVERSITY OF TORONTO   (Canada)

^e Institut du Cancer de Montreal   (Canada)

^f MCGILL UNIVERSITY   (Canada)

^g MCGILL UNIVERSITY   (Canada)

^h Medical Genetics   (Canada)

Author keywords

BRCA2; E3002K; Founder mutations; French Canadians; Hereditary breast cancer; PALB2; Variants of unknown clinical significance

Indexed keywords

ALANINE; CYSTEINE; GLYCINE; THREONINE;

ADULT; AGED; ARTICLE; BLADDER CANCER; BREAST CANCER; CANADA; CANCER INVASION; CANCER RECURRENCE; CANCER SCREENING; CONTROLLED STUDY; ESOPHAGUS CANCER; FAMILY HISTORY; FEMALE; FRANCE; GENE IDENTIFICATION; GENE MUTATION; GENETIC ASSOCIATION; GENETIC SCREENING; GENETIC VARIABILITY; HETEROZYGOTE; HUMAN; MAJOR CLINICAL STUDY; MOLECULAR PATHOLOGY; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; ONCOGENE; OVARY CANCER; PANCREAS CANCER; PATIENT ASSESSMENT; PEDIGREE ANALYSIS; PERITONEUM CANCER; PHENOTYPE; PRIORITY JOURNAL; PROSTATE CANCER; RNA SEQUENCE; THYROID CANCER; TUMOR SUPPRESSOR GENE;

EID: 84856218749     PISSN: 01676806     EISSN: 15737217     Source Type: Journal    
DOI: 10.1007/s10549-011-1830-6     Document Type: Erratum

References (37)

1. SA Narod WD Foulkes 2004 BRCA1 and BRCA2: 1994 and beyond Nat Rev Cancer 4 9 665 676 10.1038/nrc1431 15343273 1:CAS:528:DC%2BD2cXntFCmsbk%3D 10.1038/nrc1431 (Pubitemid 39215065)
2. E Lee R McKean-Cowdin H Ma Z Chen D Van Den Berg BE Henderson L Bernstein G Ursin 2008 Evaluation of unclassified variants in the breast cancer susceptibility genes BRCA1 and BRCA2 using five methods: results from a population-based study of young breast cancer patients Breast Cancer Res 10 1 19 10.1186/bcr1865 10.1186/bcr1865
3. S Domchek BL Weber 2008 Genetic variants of uncertain significance: flies in the ointment J Clin Oncol 26 1 16 17 10.1200/JCO.2007.14.4154 18165634 10.1200/JCO.2007.14.4154
4. L Cavallone SL Arcand CM Maugard S Nolet LA Gaboury AM Mes-Masson P Ghadirian D Provencher PN Tonin 2010 Comprehensive BRCA1 and BRCA2 mutation analyses and review of French Canadian families with at least three cases of breast cancer Fam Cancer 9 4 507 517 10.1007/s10689-010-9372-3 20694749 1:CAS:528:DC%2BC3cXhsVWqtr3P 10.1007/s10689-010-9372-3
5. WK Holloman 2011 Unraveling the mechanism of BRCA2 in homologous recombination Nat Struct Mol Biol 18 7 748 754 10.1038/nsmb.2096 21731065 1:CAS:528:DC%2BC3MXosFens7g%3D 10.1038/nsmb.2096
6. C Szabo A Masiello JF Ryan LC Brody 2000 The breast cancer information core: database design, structure, and scope Hum Mutat 16 2 123 131 10.1002/1098-1004(200008)16:2<123::AID-HUMU4>3.0.CO;2-Y 10923033 1:CAS:528:DC%2BD3cXlvFKgt7k%3D 10.1002/1098-1004(200008)16:2<123::AID- HUMU4>3.0.CO;2-Y (Pubitemid 30604901)
7. R Salazar JJ Cruz-Hernandez E Sanchez-Valdivieso CA Rodriguez A Gomez-Bernal E Barco E Fonseca T Portugal R Gonzalez-Sarmiento 2006 BRCA1-2 mutations in breast cancer: identification of nine new variants of BRCA1-2 genes in a population from central Western Spain Cancer Lett 233 1 172 177 10.1016/j.canlet.2005.03.006 15876480 1:CAS:528:DC%2BD28XhtlGhs7Y%3D 10.1016/j.canlet.2005.03.006 (Pubitemid 43214576)
8. IF Fokkema PE Taschner GC Schaafsma J Celli JF Laros JT den Dunnen 2011 LOVD v.2.0: the next generation in gene variant databases Hum Mutat 32 5 557 563 10.1002/humu.21438 21520333 1:CAS:528:DC%2BC3MXltVSqsLw%3D 10.1002/humu.21438
9. PN Tonin AM Mes-Masson PA Futreal K Morgan M Mahon WD Foulkes DE Cole D Provencher P Ghadirian SA Narod 1998 Founder BRCA1 and BRCA2 mutations in French Canadian breast and ovarian cancer families Am J Hum Genet 63 5 1341 1351 10.1086/302099 9792861 1:STN:280:DyaK1M%2FhtFamtg%3D%3D 10.1086/302099 (Pubitemid 30418531)
10. KK Oros P Ghadirian CM Greenwood C Perret Z Shen Y Paredes SL Arcand AM Mes-Masson SA Narod WD Foulkes D Provencher PN Tonin 2004 Significant proportion of breast and/or ovarian cancer families of French Canadian descent harbor 1 of 5 BRCA1 and BRCA2 mutations Int J Cancer 112 3 411 419 10.1002/ijc.20406 15382066 1:CAS:528:DC%2BD2cXovVelsrY%3D 10.1002/ijc.20406 (Pubitemid 39390605)
11. KK Oros P Ghadirian CM Maugard C Perret Y Paredes AM Mes-Masson WD Foulkes D Provencher PN Tonin 2006 Application of BRCA1 and BRCA2 mutation carrier prediction models in breast and/or ovarian cancer families of French Canadian descent Clin Genet 70 4 320 329 10.1111/j.1399-0004.2006.00673.x 16965326 1:STN:280:DC%2BD28rktVOjtg%3D%3D 10.1111/j.1399-0004.2006.00673.x (Pubitemid 44323398)
12. KK Oros G Leblanc SL Arcand Z Shen C Perret AM Mes-Masson WD Foulkes P Ghadirian D Provencher PN Tonin 2006 Haplotype analysis suggest common founders in carriers of the recurrent BRCA2 mutation, 3398delAAAAG, in French Canadian hereditary breast and/ovarian cancer families BMC Med Genet 7 23 10.1186/1471-2350-7-23 16539696 10.1186/1471-2350-7-23
13. AP Manning D Abelovich P Ghadirian JA Lambert D Frappier D Provencher A Robidoux T Peretz SA Narod AM Mes-Masson WD Foulkes T Wang K Morgan TM Fujiwara PN Tonin 2001 Haplotype analysis of BRCA2 8765delAG mutation carriers in French Canadian and Yemenite Jewish hereditary breast cancer families Hum Hered 52 2 116 120 11512557 1:CAS:528:DC%2BD3MXntVKgtLo%3D 10.1159/000053364 (Pubitemid 32710243)
14. PN Tonin 2006 The limited spectrum of pathogenic BRCA1 and BRCA2 mutations in the French Canadian breast and breast-ovarian cancer families, a founder population of Quebec, Canada Bull Cancer 93 9 841 846 16980226 1:CAS:528:DC%2BD28Xht1yqt7fL (Pubitemid 44520865)
15. CR Scriver 2001 Human genetics: lessons from Quebec populations Annu Rev Genomics Hum Genet 2 69 101 10.1146/annurev.genom.2.1.69 11701644 1:CAS:528:DC%2BD3MXos1antLk%3D 10.1146/annurev.genom.2.1.69 (Pubitemid 35265001)
16. AM Laberge J Michaud A Richter E Lemyre M Lambert B Brais GA Mitchell 2005 Population history and its impact on medical genetics in Quebec Clin Genet 68 4 287 301 10.1111/j.1399-0004.2005.00497.x 16143014 10.1111/j.1399-0004.2005. 00497.x (Pubitemid 41341606)
17. H Vezina F Durocher M Dumont L Houde C Szabo M Tranchant J Chiquette M Plante R Laframboise J Lepine H Nevanlinna D Stoppa-Lyonnet D Goldgar P Bridge J Simard 2005 Molecular and genealogical characterization of the R1443X BRCA1 mutation in high-risk French-Canadian breast/ovarian cancer families Hum Genet 117 2-3 119 132 10.1007/s00439-005-1297-9 15883839 1:CAS:528: DC%2BD2MXltlCisL8%3D 10.1007/s00439-005-1297-9 (Pubitemid 43136788)
18. J Simard M Dumont AM Moisan V Gaborieau H Malouin F Durocher J Chiquette M Plante D Avard P Bessette C Brousseau M Dorval B Godard L Houde Y Joly MA Lajoie G Leblanc J Lepine B Lesperance H Vezina J Parboosingh R Pichette L Provencher J Rheaume D Sinnett C Samson JC Simard M Tranchant P Voyer D Easton SV Tavtigian BM Knoppers R Laframboise P Bridge D Goldgar 2007 Evaluation of BRCA1 and BRCA2 mutation prevalence, risk prediction models and a multistep testing approach in French-Canadian families with high risk of breast and ovarian cancer J Med Genet 44 2 107 121 10.1136/jmg.2006.044388 16905680 1:CAS:528:DC%2BD2sXjt1Sntr0%3D 10.1136/jmg.2006.044388
19. P Ghadirian A Robidoux P Zhang R Royer M Akbari S Zhang E Fafard M Costa G Martin C Potvin E Patocskai N Larouche R Younan E Nassif S Giroux SA Narod F Rousseau WD Foulkes 2009 The contribution of founder mutations to early-onset breast cancer in French-Canadian women Clin Genet 76 5 421 426 10.1111/j.1399-0004.2009.01277.x 19863560 1:STN:280:DC%2BD1Mjit1Cmuw%3D%3D 10.1111/j.1399-0004.2009.01277.x
20. SL Arcand CM Maugard P Ghadirian A Robidoux C Perret P Zhang E Fafard AM Mes-Masson WD Foulkes D Provencher SA Narod PN Tonin 2008 Germline TP53 mutations in BRCA1 and BRCA2 mutation-negative French Canadian breast cancer families Breast Cancer Res Treat 108 3 399 408 10.1007/s10549-007-9608-6 17541742 1:CAS:528:DC%2BD1cXjsFGisLY%3D 10.1007/s10549-007-9608-6 (Pubitemid 351431072)
21. Cancer risks in BRCA2 mutation carriers. The breast cancer linkage consortium (1999). J Natl Cancer Inst 91 (15):1310-1316
22. WD Foulkes P Ghadirian MR Akbari N Hamel S Giroux N Sabbaghian A Darnel R Royer A Poll E Fafard A Robidoux G Martin TA Bismar M Tischkowitz F Rousseau SA Narod 2007 Identification of a novel truncating PALB2 mutation and analysis of its contribution to early-onset breast cancer in French-Canadian women Breast Cancer Res 9 R6 83 10.1186/bcr1828 10.1186/bcr1828
23. M Tischkowitz B Xia N Sabbaghian JS Reis-Filho N Hamel G Li EH van Beers L Li T Khalil LA Quenneville A Omeroglu A Poll P Lepage N Wong PM Nederlof A Ashworth PN Tonin SA Narod DM Livingston WD Foulkes 2007 Analysis of PALB2/FANCN-associated breast cancer families Proc Natl Acad Sci USA 104 16 6788 6793 10.1073/pnas.0701724104 17420451 1:CAS:528:DC%2BD2sXkvFWjtrk%3D 10.1073/pnas.0701724104 (Pubitemid 47175579)
24. HT Lynch PM Lynch SJ Lanspa CL Snyder JF Lynch CR Boland 2009 Review of the Lynch syndrome: history, molecular genetics, screening, differential diagnosis, and medicolegal ramifications Clin Genet 76 1 1 18 10.1111/j.1399-0004.2009.01230.x 19659756 1:CAS:528:DC%2BD1MXpvFyns7c%3D 10.1111/j.1399-0004.2009.01230.x
25. PN Tonin CM Maugard C Perret AM Mes-Masson DM Provencher 2007 A review of histopathological subtypes of ovarian cancer in BRCA-related French Canadian cancer families Fam Cancer 6 4 491 497 10.1007/s10689-007-9152-x 17636423 1:CAS:528:DC%2BD2sXhtF2htb3K 10.1007/s10689-007-9152-x (Pubitemid 47622264)
26. PN Tonin C Perret JA Lambert AJ Paradis T Kantemiroff MH Benoit G Martin WD Foulkes P Ghadirian 2001 Founder BRCA1 and BRCA2 mutations in early-onset French Canadian breast cancer cases unselected for family history Int J Cancer 95 3 189 193 11307153 1:CAS:528:DC%2BD3MXjvFOmtrw%3D 10.1002/1097-0215(20010520) 95:3<189::AID-IJC1032>3.0.CO;2-N (Pubitemid 32477235)
27. H Yang PD Jeffrey J Miller E Kinnucan Y Sun NH Thoma N Zheng PL Chen WH Lee NP Pavletich 2002 BRCA2 function in DNA binding and recombination from a BRCA2-DSS1-ssDNA structure Science 297 5588 1837 1848 10.1126/science.297.5588. 1837 12228710 1:CAS:528:DC%2BD38XmvFGgsr0%3D 10.1126/science.297.5588.1837 (Pubitemid 35024337)
28. H Farmer N McCabe CJ Lord AN Tutt DA Johnson TB Richardson M Santarosa KJ Dillon I Hickson C Knights NM Martin SP Jackson GC Smith A Ashworth 2005 Targeting the DNA repair defect in BRCA mutant cells as a therapeutic strategy Nature 434 7035 917 921 10.1038/nature03445 15829967 1:CAS:528: DC%2BD2MXjtFOmsrc%3D 10.1038/nature03445 (Pubitemid 40559006)
29. HE Bryant N Schultz HD Thomas KM Parker D Flower E Lopez S Kyle M Meuth NJ Curtin T Helleday 2005 Specific killing of BRCA2-deficient tumours with inhibitors of poly(ADP-ribose) polymerase Nature 434 7035 913 917 10.1038/nature03443 15829966 1:CAS:528:DC%2BD2MXjtFOmsrY%3D 10.1038/nature03443 (Pubitemid 40559005)
30. SL Edwards R Brough CJ Lord R Natrajan R Vatcheva DA Levine J Boyd JS Reis-Filho A Ashworth 2008 Resistance to therapy caused by intragenic deletion in BRCA2 Nature 451 7182 1111 1115 10.1038/nature06548 18264088 1:CAS:528:DC%2BD1cXisFWjtrw%3D 10.1038/nature06548 (Pubitemid 351317441)
31. R Karchin M Agarwal A Sali F Couch MS Beattie 2008 Classifying variants of undetermined significance in BRCA2 with protein likelihood ratios Cancer Inform 6 203 216 19043619
32. D Thompson D Easton 2001 Variation in cancer risks, by mutation position, in BRCA2 mutation carriers Am J Hum Genet 68 2 410 419 10.1086/318181 11170890 1:CAS:528:DC%2BD3MXhtl2lsLs%3D 10.1086/318181 (Pubitemid 32147810)
33. DF Easton AM Deffenbaugh D Pruss C Frye RJ Wenstrup K Allen-Brady SV Tavtigian AN Monteiro ES Iversen FJ Couch DE Goldgar 2007 A systematic genetic assessment of 1, 433 sequence variants of unknown clinical significance in the BRCA1 and BRCA2 breast cancer-predisposition genes Am J Hum Genet 81 5 873 883 10.1086/521032 17924331 1:CAS:528:DC%2BD2sXht1KmsL%2FP 10.1086/521032 (Pubitemid 47580242)
34. M Tischkowitz B Xia 2010 PALB2/FANCN: recombining cancer and Fanconi anemia Cancer Res 70 19 7353 7359 10.1158/0008-5472.CAN-10-1012 20858716 1:CAS:528:DC%2BC3cXht1akt7zI 10.1158/0008-5472.CAN-10-1012
35. M Wasielewski AA Out J Vermeulen M Nielsen A van den Ouweland CM Tops JT Wijnen HF Vasen MM Weiss JG Klijn P Devilee FJ Hes M Schutte 2010 Increased MUTYH mutation frequency among Dutch families with breast cancer and colorectal cancer Breast Cancer Res Treat 124 3 635 641 10.1007/s10549-010-0801-7 20191381 1:CAS:528:DC%2BC3cXhtlyrsrjN 10.1007/s10549-010-0801-7
36. SG Kuznetsov P Liu SK Sharan 2008 Mouse embryonic stem cell-based functional assay to evaluate mutations in BRCA2 Nat Med 14 8 875 881 10.1038/nm.1719 18607349 1:CAS:528:DC%2BD1cXptlKltrk%3D 10.1038/nm.1719
37. A Gagnon E Heyer 2001 Fragmentation of the Quebec population genetic pool (Canada): Evidence from the genetic contribution of founders per region in the 17th and 18th centuries Am J Phys Anthropol 114 1 30 41 11150050 1:STN:280:DC%2BD3M%2FpvFGhsw%3D%3D 10.1002/1096-8644(200101)114:1<30::AID- AJPA1003>3.0.CO;2-L (Pubitemid 32047316)