PALB2 mutations 1592delT and 229delT are not present in Korean breast cancer patients negative for BRCA1 and BRCA2 mutations

Breast Cancer Research and Treatment

Volumn 122, Issue 1, 2010, Pages 303-306

  Kim, Jin Ho ^a   Choi, Doo Ho ^b   Cho, Dae Yeon ^c   Ahn, Sei Hyun ^d   Son, Byung Ho ^d   Haffty, Bruce G ^e  

^a Korea Cancer Center Hospital   (South Korea)

^b Sungkyunkwan University School of Medicine   (South Korea)

^c LabGenomics Clinical Research Institute   (South Korea)

^d University of Ulsan College of Medicine   (South Korea)

^e ROBERT WOOD JOHNSON MEDICAL SCHOOL   (United States)

Author keywords

Breast cancer; Korean; Mutation; PALB2; Susceptibility gene

Indexed keywords

BRCA1 PROTEIN; BRCA2 PROTEIN; PLB2 PROTEIN; TUMOR MARKER; UNCLASSIFIED DRUG; NUCLEAR PROTEIN; PALB2 PROTEIN, HUMAN; TUMOR SUPPRESSOR PROTEIN;

ADULT; ARTICLE; BREAST CANCER; CANCER SUSCEPTIBILITY; CONTROLLED STUDY; FAMILY HISTORY; FEMALE; GENE MUTATION; GENETIC SCREENING; GENETIC SUSCEPTIBILITY; GENOTYPE; HUMAN; KOREA; MAJOR CLINICAL STUDY; MUTATIONAL ANALYSIS; ONSET AGE; PRIORITY JOURNAL; BREAST NEOPLASMS; DNA SEQUENCE; GENE DELETION; GENETIC PREDISPOSITION; GENETICS; GERMLINE MUTATION; MIDDLE AGED; NEOPLASTIC SYNDROMES, HEREDITARY; NUCLEOTIDE SEQUENCE; OVARIAN NEOPLASMS; PENETRANCE; RISK FACTOR; TUMOR SUPPRESSOR GENE;

ADULT; BREAST NEOPLASMS; DNA MUTATIONAL ANALYSIS; FEMALE; GENES, BRCA1; GENES, BRCA2; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; GERM-LINE MUTATION; HUMANS; KOREA; MIDDLE AGED; NEOPLASTIC SYNDROMES, HEREDITARY; NUCLEAR PROTEINS; OVARIAN NEOPLASMS; PENETRANCE; RISK FACTORS; SEQUENCE ANALYSIS, DNA; SEQUENCE DELETION; TUMOR SUPPRESSOR PROTEINS;

EID: 77953534669     PISSN: 01676806     EISSN: 15737217     Source Type: Journal    
DOI: 10.1007/s10549-010-0806-2     Document Type: Article

References (29)

1. American Cancer Society (2009) Breast cancer facts & figures 2009-2010. American Cancer Society, Atlanta
2. Y Miki J Swensen D Shattuck-Eidens, et al. 1994 A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1 Science 266 66 71 10.1126/science.7545954 1:CAS:528:DyaK2MXhtF2ns70%3D 7545954 (Pubitemid 24345325)
3. R Wooster G Bignell J Lancaster, et al. 1995 Identification of the breast cancer susceptibility gene BRCA2 Nature 378 789 792 10.1038/378789a0 1:CAS:528:DyaK28XltFWi 8524414 (Pubitemid 26004412)
4. J Peto N Collins R Barfoot, et al. 1999 Prevalence of BRCA1 and BRCA2 gene mutations in patients with early-onset breast cancer J Natl Cancer Inst 91 943 949 10.1093/jnci/91.11.943 1:CAS:528:DyaK1MXjvFOmtb4%3D 10359546
5. B Newman H Mu LM Butler, et al. 1998 Frequency of breast cancer attributable to BRCA1 in a population-based series of American women JAMA 279 915 921 10.1001/jama.279.12.915 1:CAS:528:DyaK1cXitlyju7Y%3D 9544765 (Pubitemid 28136080)
6. R Wooster BL Weber 2003 Breast and ovarian cancer N Engl J Med 348 2339 2347 10.1056/NEJMra012284 1:CAS:528:DC%2BD3sXkt1Kktrc%3D 12788999 (Pubitemid 36638109)
7. PDP Pharoah A Antoniou M Bobrow, et al. 2002 Polygenic susceptibility to breast cancer and implications for prevention Nat Genet 31 33 36 10.1038/ng853 1:CAS:528:DC%2BD38Xjt1Kgu7g%3D 11984562
8. S Reid D Schindler H Hanenberg, et al. 2007 Biallelic mutations in PALB2 cause Fanconi anemia subtype FA-N and predispose to childhood cancer Nat Genet 39 162 164 10.1038/ng1947 1:CAS:528:DC%2BD2sXpvFersA%3D%3D 17200671 (Pubitemid 46184345)
9. W Wang 2007 Emergence of a DNA-damage response network consisting of Fanconi anaemia and BRCA proteins Nat Rev Genet 8 735 748 10.1038/nrg2159 1:CAS:528:DC%2BD2sXhtVCrsb3J 17768402 (Pubitemid 47429206)
10. B Xia JC Dorsman N Ameziane, et al. 2007 Fanconi anemia is associated with a defect in the BRCA2 partner PALB2 Nat Genet 39 159 161 10.1038/ng1942 1:CAS:528:DC%2BD2sXpvFekug%3D%3D 17200672 (Pubitemid 46184344)
11. B Xia Q Sheng K Nakanishi, et al. 2006 Control of BRCA2 cellular and clinical functions by a nuclear partner, PALB2 Mol Cell 22 719 729 10.1016/j.molcel.2006.05.022 1:CAS:528:DC%2BD28XmvVCitL8%3D 16793542
12. N Rahman S Seal D Thompson, et al. 2007 PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene Nat Genet 39 165 167 10.1038/ng1959 1:CAS:528:DC%2BD2sXpvFeqsw%3D%3D 17200668 (Pubitemid 46184346)
13. H Erkko B Xia J Nikkilä, et al. 2007 A recurrent mutation in PALB2 in Finnish cancer families Nature 446 316 319 10.1038/nature05609 1:CAS:528:DC%2BD2sXivVSns78%3D 17287723 (Pubitemid 46426155)
14. WD Foulkes P Ghadirian MR Akbari, et al. 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 R83 10.1186/bcr1828 18053174
15. M Tischkowitz B Xia N Sabbaghian, et al. 2007 Analysis of PALB2/FANCN-associated breast cancer families Proc Natl Acad Sci USA 104 6788 6793 10.1073/pnas.0701724104 1:CAS:528:DC%2BD2sXkvFWjtrk%3D 17420451 (Pubitemid 47175579)
16. A Cao J Huang Z Hu, et al. 2009 The prevalence of PALB2 germline mutations in BRCA1/BRCA2 negative Chinese women with early onset breast cancer or affected relatives Breast Cancer Res Treat 114 457 462 10.1007/s10549-008- 0036-z 1:CAS:528:DC%2BD1MXisFSqt7o%3D 18446436
17. Papi L, Putignano A, Congregati C et al (2009) A PALB2 germline mutation associated with hereditary breast cancer in Italy. Fam Cancer. doi: 10.1007/s10689-009-9295-z
18. Horner M, Ries L, Krapcho M et al (2009) SEER cancer statistics review, 1975-2006. National Cancer Institute, Bethesda, MD
19. BH Son BS Kwak JK Kim, et al. 2006 Changing patterns in the clinical characteristics of Korean patients with breast cancer during the last 15 years Arch Surg 141 155 160 10.1001/archsurg.141.2.155 16490892 (Pubitemid 43276565)
20. SS Ko 2008 Chronological changing patterns of clinical characteristics of Korean breast cancer patients during 10 years (1996-2006) using nationwide breast cancer registration on-line program: biannual update J Surg Oncol 98 318 323 10.1002/jso.21110 18623175
21. DH Choi MH Lee AE Bale, et al. 2004 Incidence of BRCA1 and BRCA2 mutations in young Korean breast cancer patients J Clin Oncol 22 1638 1645 10.1200/JCO.2004.04.179 1:CAS:528:DC%2BD2cXpsVWmu7c%3D 15117986 (Pubitemid 41079802)
22. SH Ahn UK Hwang BS Kwak, et al. 2004 Prevalence of BRCA1 and BRCA2 mutations in Korean breast cancer patients J Korean Med Sci 19 269 274 10.3346/jkms.2004.19.2.269 1:CAS:528:DC%2BD2cXksVSkt74%3D 15082902
23. DH Choi DY Cho MH Lee HS Park SH Ahn BH Son BruceG Haffty 2008 The CHEK2 1100delC mutation is not present in Korean patients with breast cancer cases tested for BRCA1 and BRCA2 mutations Breast Cancer Res Treat 112 569 573 10.1007/s10549-007-9878-z 1:CAS:528:DC%2BD1cXhtl2mu7bP 18175216
24. MJ García V Fernández A Osorio, et al. 2009 Analysis of FANCB and FANCN/PALB2 fanconi anemia genes in BRCA1/2-negative Spanish breast cancer families Breast Cancer Res Treat 113 545 551 10.1007/s10549-008-9945-0 18302019
25. Sluiter M, Mew S, van Rensburg E (2009) PALB2 sequence variants in young South African breast cancer patients. Fam Cancer 8:347-353
26. H Erkko JG Dowty J Nikkilä, et al. 2008 Penetrance analysis of the PALB2 c.1592delT founder mutation Clin Cancer Res 14 4667 4671 10.1158/1078-0432.CCR-08-0210 1:CAS:528:DC%2BD1cXosFGiur0%3D 18628482
27. T Heikkinen H Kärkkäinen K Aaltonen, et al. 2009 The breast cancer susceptibility mutation PALB2 1592delT is associated with an aggressive tumor phenotype Clin Cancer Res 15 3214 3222 10.1158/1078-0432.CCR-08-3128 1:CAS:528:DC%2BD1MXltFOrurk%3D 19383810
28. H Gunnarsson A Arason EM Gillanders, et al. 2008 Evidence against PALB2 involvement in Icelandic breast cancer susceptibility J Negat Results Biomed 7 5 10.1186/1477-5751-7-5 18637200
29. McInerney N, Miller N, Rowan A et al (2009) Evaluation of variants in the CHEK2, BRIP1 and PALB2 genes in an Irish breast cancer cohort. Breast Cancer Res Treat. doi: 10.1007/s10549-009-0540-9