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Molecular Genetics of Breast and Ovarian Cancer: Recent Advances and Clinical Implications Cover

Molecular Genetics of Breast and Ovarian Cancer: Recent Advances and Clinical Implications

Balkan Journal of Medical Genetics
Volume 15 (2012): Issue Supplement (December 2012)
By:  and    
Open Access
|Dec 2012
References

References

  1. 1. Turnbull C, Rahman N. Genetic predisposition to breast cancer: past, present, and future. Annu Rev Genomics Hum Genet. 2008; 9: 321-345.
    Open DOISearch in Google Scholar
  2. 2. Ghoussaini M, Pharoah PD. Polygenic susceptibility to breast cancer: current state-of-the-art. Future Oncol. 2009; 5(5): 689-701.
    Open DOISearch in Google Scholar
  3. 3. Gayther SA, Pharoah PD. The inherited genetics of ovarian and endometrial cancer. Curr Opin Genet Dev. 2010; 20(3): 231-238.
    Open DOISearch in Google Scholar
  4. 4. Risch HA, McLaughlin JR, Cole DE,Prevalence and penetrance of germline BRCA1 and BRCA2 mutations in a population series of 649 women with ovarian cancer. Am J Hum Genet. 2001; 68(3): 700-710.
    Open DOISearch in Google Scholar
  5. 5. Thompson D, Easton D, Breast Cancer Linkage Consortium. Variation in cancer risks, by mutation position, in BRCA2 mutation carriers. Am J Hum Genet. 2001; 68(2): 410-419.
    Open DOISearch in Google Scholar
  6. 6. Bogdanova NV, Antonenkova NN, Rogov YI, Karstens JH, Hillemanns P, Dörk T. High frequency and allele-specific differences of BRCA1 founder mutations in breast cancer and ovarian cancer patients from Belarus. Clin Genet. 2010; 78(4): 364-372.
    Open DOISearch in Google Scholar
  7. 7. Antoniou AC, Sinilnikova OM, Simard J,RAD51 135G>C modifies breast cancer risk among BRCA2 mutation carriers: results from a combined analysis of 19 studies. Am J Hum Genet. 2007; 81(6): 1186-1200.
    Open DOISearch in Google Scholar
  8. 8. Ramus SJ, Kartsonaki C, Gayther SA, Pharoah PD, Sinilnikova OM, Beesley J. Genetic variation at 9p22.2 and ovarian cancer risk for BRCA1 and BRCA2 mutation carriers. J Natl Cancer Inst. 2011; 103(2): 105-116.
    Open DOISearch in Google Scholar
  9. 9. Rahman N, Seal S, Thompson D,PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene. Nat Genet. 2007; 39(2): 165-167.
    Open DOISearch in Google Scholar
  10. 10. Erkko H, Xia B, Nikkilä J,A recurrent mutation in PALB2 in Finnish cancer families. Nature. 2007; 446(7133): 316-319.
    Open DOISearch in Google Scholar
  11. 11. Erkko H, Dowty JG, Nikkilä J,Penetrance analysis of the PALB2 c.1592delT founder mutation. Clin Cancer Res 2008;14(14):4667-4671.
    Open DOISearch in Google Scholar
  12. 12. Dansonka-Mieszkowska A, Kluska A, Moes J,A novel germline PALB2 deletion in Polish breast and ovarian cancer patients. BMC Med Genet. 2010; 11: 20.
    Open DOISearch in Google Scholar
  13. 13. Prokofyeva D, Bogdanova N, Bermisheva M,Rare occurrence of PALB2 mutations in ovarian cancer patients from the Volga-Ural region. Clin Genet. 2012; 82(1): 100-101.
    Open DOISearch in Google Scholar
  14. 14. Meindl A, Hellebrand H, Wiek C,Germline mutations in breast and ovarian cancer pedigrees establish RAD51C as a human cancer susceptibility gene. Nat Genet. 2010; 42(5): 410-414.
    Open DOISearch in Google Scholar
  15. 15. Pelttari LM, Heikkinen T, Thompson D,RAD51C is a susceptibility gene for ovarian cancer. Hum Mol Genet. 2011; 20(16): 3278-3288.
    Open DOISearch in Google Scholar
  16. 16. Loveday C, Turnbull C, Ramsay E, Hughes D, Ruark E, Frankum JR. Germline mutations in RAD51D confer susceptibility to ovarian cancer. Nat Genet. 2011; 43(9): 879-882.
    Open DOISearch in Google Scholar
  17. 17. Seal S, Thompson D, Renwick A,Truncating mutations in the Fanconi anemia J gene BRIP1 are low-penetrance breast cancer susceptibility alleles. Nat Genet. 2006; 38(11): 1239-1241.
    Open DOISearch in Google Scholar
  18. 18. Masciari S, Larsson N, Senz J,Germline E-cadherin mutations in familial lobular breast cancer. J Med Genet. 2007; 44(11): 726-731.
    Open DOISearch in Google Scholar
  19. 19. Xie ZM, Li LS, Laquet C,Germline mutations of the E-cadherin gene in families with inherited invasive lobular breast carcinoma but no diffuse gastric cancer. Cancer. 2011; 117(14): 3112-3117.
    Open DOISearch in Google Scholar
  20. 20. Swift M, Reitnauer PJ, Morrell D, Chase CL. Breast and other cancers in families with ataxiatelangiectasia. N Engl J Med. 1987; 316(21): 1289-1294.
    Open DOISearch in Google Scholar
  21. 21. Shiloh Y. ATM and related protein kinases: safeguarding genome integrity. Nat Rev Cancer. 2003; 3(3): 155-168.
    Open DOISearch in Google Scholar
  22. 22. Renwick A, Thompson D, Seal S,ATM mutations that cause ataxia-telangiectasia are breast cancer susceptibility alleles. Nat Genet. 2006; 38(8): 873-875.
    Open DOISearch in Google Scholar
  23. 23. Pylkäs K, Tommiska J, Syrjäkoski K,Evaluation of the role of Finnish ataxia-telangiectasia mutations in hereditary predisposition to breast cancer. Carcinogenesis. 2007; 28(5): 1040-1045.
    Open DOISearch in Google Scholar
  24. 24. Bogdanova N, Cybulski C, Bermisheva M,A nonsense mutation (E1978X) in the ATM gene is associated with breast cancer. Breast Cancer Res Treat. 2009; 118(1): 207-211.
    Open DOISearch in Google Scholar
  25. 25. Górski B, Cybulski C, Huzarski T,Breast cancer predisposing alleles in Poland. Breast Cancer Res Treat. 2005; 92(1): 19-24.
    Open DOISearch in Google Scholar
  26. 26. Steffen J, Nowakowska D, Niwinska A,Germline mutations 657del5 of the NBS1 gene contribute significantly to the incidence of breast cancer in Central Poland. Int J Cancer. 2006; 119(2): 472-475.
    Open DOISearch in Google Scholar
  27. 27. Bogdanova N, Feshchenko S, Schürmann P,Nijmegen Breakage Syndrome mutations and risk of breast cancer. Int J Cancer. 2008; 122(4): 802-806.
    Open DOISearch in Google Scholar
  28. 28. Heikkinen K, Rapakko K, Karppinen SM,RAD50 and NBS1 are breast cancer susceptibility genes associated with genomic instability. Carcinogenesis. 2006; 27(8): 1593-1599.
    Open DOISearch in Google Scholar
  29. 29. Bartkova J, Tommiska J, Oplustilova L,Aberrations of the MRE11-RAD50-NBS1 DNA damage sensor complex in human breast cancer: MRE11 as a candidate familial cancer-predisposing gene. Mol Oncol. 2008; 2(4): 296-316.
    Open DOISearch in Google Scholar
  30. 30. Walsh T, Casadei S, Lee MK,Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing. Proc Natl Acad Sci USA. 2011; 108(44): 18032-18037.
    Open DOISearch in Google Scholar
  31. 31. Nevanlinna H, Bartek J. The CHEK2 gene and inherited breast cancer susceptibility. Oncogene. 2006; 25(43): 5912-5919.
    Open DOISearch in Google Scholar
  32. 32. Meijers-Heijboer H, van den Ouweland A, Klijn J,CHEK2-Breast Cancer Consortium. Lowpenetrance susceptibility to breast cancer due to CHEK2(*)1100delC in noncarriers of BRCA1 or BRCA2 mutations. Nat Genet. 2002; 31(1): 55-59.
    Open DOISearch in Google Scholar
  33. 33. Vahteristo P, Bartkova J, Eerola H,A CHEK2 genetic variant contributing to a substantial fraction of familial breast cancer. Am J Hum Genet. 2002; 71(2): 432-438.
    Open DOISearch in Google Scholar
  34. 34. CHEK2 Breast Cancer Case-Control Consortium. CHEK2*1100delC and susceptibility to breast cancer: a collaborative analysis involving 10,860 breast cancer cases and 9,065 controls from 10 studies. Am J Hum Genet. 2004; 74(6): 1175-1182.
    Open DOISearch in Google Scholar
  35. 35. Adank MA, Jonker MA, Kluijt I,CHEK2* 1100delC homozygosity is associated with a high breast cancer risk in women. J Med Genet. 2011; 48(12): 860-863.
    Open DOISearch in Google Scholar
  36. 36. Cybulski C, Wokołorczyk D, Huzarski T,A deletion in CHEK2 of 5,395 bp predisposes to breast cancer in Poland. Breast Cancer Res Treat. 2007; 102(1): 119-122.
    Open DOISearch in Google Scholar
  37. 37. Bogdanova N, Enssen-Dubrowinskaja N, Feshchenko S,Association of two mutations in the CHEK2 gene with breast cancer. Int J Cancer. 2005; 116(2): 263-266.
    Open DOISearch in Google Scholar
  38. 38. Cybulski C, Górski B, Huzarski T,CHEK2 is a multiorgan cancer susceptibility gene. Am J Hum Genet. 2004; 75(6): 1131-1135.
    Open DOISearch in Google Scholar
  39. 39. Easton DF, Pooley KA, Dunning AM,Genomewide association study identifies novel breast cancer susceptibility loci. Nature. 2007; 447(7148): 1087-1093.
    Open DOISearch in Google Scholar
  40. 40. Ahmed S, Thomas G, Ghoussaini M,Newly discovered breast cancer susceptibility loci on 3p24 and 17q23.2. Nat Genet. 2009; 41(5): 585-590.
    Open DOISearch in Google Scholar
  41. 41. Antoniou AC, Wang X, Fredericksen ZS,A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor-negative breast cancer in the general population. Nat Genet 2010;42(10):885-892.
    Open DOISearch in Google Scholar
  42. 42. Turnbull C, Ahmed S, Morrison J,Genomewide association study identifies five new breast cancer susceptibility loci. Nat Genet. 2010; 42(6): 504-507.
    Open DOISearch in Google Scholar
  43. 43. Haiman CA, Chen GK, Vachon CM,A common variant at the TERT-CLPTM1L locus is associated with estrogen receptor-negative breast cancer. Nat Genet. 2011; 43(12): 1210-1214.
    Open DOISearch in Google Scholar
  44. 44. Long J, Cai Q, Sung H,Genome-wide association study in East Asians identifies novel susceptibility loci for breast cancer. PLoS Genet. 2012; 8(2): e1002532.
    Search in Google Scholar
  45. 45. Ghoussaini M, Fletcher O, Michailidou K,Genome-wide association analysis identifies three new breast cancer susceptibility loci. Nat Genet. 2012; 44(3): 312-318.
    Open DOISearch in Google Scholar
  46. 46. Song H, Ramus SJ, Tyrer J,A genome-wide association study identifies a new ovarian cancer susceptibility locus on 9p22.2. Nat Genet. 2009; 41(9): 996-1000.
    Open DOISearch in Google Scholar
  47. 47. Goode EL, Chenevix-Trench G, Song H,A genome-wide association study identifies susceptibility loci for ovarian cancer at 2q31 and 8q24. Nat Genet. 2010; 42(10): 874-879.
    Open DOISearch in Google Scholar
  48. 48. Bolton KL, Tyrer J, Song H,Common variants at 19p13 are associated with susceptibility to ovarian cancer. Nat Genet. 2010; 42(10): 880-884.
    Open DOISearch in Google Scholar
  49. 49. Ghoussaini M, Song H, Koessler T,Multiple loci with different cancer specificities within the 8q24 gene desert. J Natl Cancer Inst. 2008; 100(13): 962-966.
    Open DOISearch in Google Scholar
  50. 50. Wellcome Trust Case Control Consortium. Genomewide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls. Nature. 2010; 464(7289): 713-720.
    Open DOISearch in Google Scholar
  51. 51. Pharoah PD, Antoniou AC, Easton DF, Ponder BA. Polygenes, risk prediction, and targeted prevention of breast cancer. N Engl J Med. 2008; 358(26): 2796-2803.
    Open DOISearch in Google Scholar
  52. 52. Pashayan N, Duffy SW, Chowdhury S,Polygenic susceptibility to prostate and breast cancer: implications for personalised screening. Br J Cancer. 2011; 104 (10): 1656-1663.
    Open DOISearch in Google Scholar
  53. 53. Robertson L, Hanson H, Seal S,BRCA1 testing should be offered to individuals with triple-negative breast cancer diagnosed below 50 years. Br J Cancer. 2012; 106(6): 1234-1238.
    Open DOISearch in Google Scholar
  54. 54. Broeks A, Schmidt MK, Sherman ME,Low penetrance breast cancer susceptibility loci are associated with specific breast tumor subtypes: findings from the Breast Cancer Association Consortium. Hum Mol Genet. 2011; 20(16): 3289-3303.
    Open DOISearch in Google Scholar
  55. 55. Hynes NE, Dey JH. Potential for targeting the fibroblast growth factor receptors in breast cancer. Cancer Res. 2010; 70(13): 5199-5202.
    Open DOISearch in Google Scholar
  56. 56. Bolton KL, Chenevix-Trench G, Goh C,Association between BRCA1 and BRCA2 mutations and survival in women with invasive epithelial ovarian cancer. JAMA. 2012; 307(4): 382-390.
    Open DOISearch in Google Scholar
  57. 57. Dedes KJ, Wilkerson PM, Wetterskog D, Weigelt B, Ashworth A, Reis-Filho JS. Synthetic lethality of PARP inhibition in cancers lacking BRCA1 and BRCA2 mutations. Cell Cycle. 2011; 10(8): 1192-1199.
    Open DOISearch in Google Scholar
  58. 58. Reaper PM, Griffiths MR, Long JM,Selective killing of ATM- or p53-deficient cancer cells through inhibition of ATR. Nat Chem Biol. 2011; 7(7): 428-430.
    Open DOISearch in Google Scholar
DOI: https://doi.org/10.2478/v10034-012-0024-9 | Journal eISSN: 2199-5761 (formerly 1311-0160) | Journal ISSN: 1311-0160
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Language: English
Page range: 75 - 80
Published on: Dec 22, 2012
Published by: Macedonian Academy of Sciences and Arts
In partnership with: Paradigm Publishing Services
Keywords:
Breast carcinoma,
Ovarian carcinoma,
Germ-line mutations,
Chromosomal instability
Related subjects:
Medicine,
Basic medical science,
Basic medical science, other

© 2012 Thilo Dörk, N Bogdanova, published by Macedonian Academy of Sciences and Arts
This work is licensed under the Creative Commons License.

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