Germline copy number variations associated with breast cancer susceptibility in a Japanese population

Tumor Biology

Volumn 34, Issue 2, 2013, Pages 947-952

  Suehiro, Yutaka ^a   Okada, Takae ^a   Shikamoto, Naoya ^a   Zhan, Yibo ^a   Sakai, Kohei ^a   Okayama, Naoko ^a   Nishioka, Mitsuaki ^a   Furuya, Tomoko ^a   Oga, Atsunori ^a   Kawauchi, Shigeto ^a   Maeda, Noriko ^a   Tamesa, Michiko ^a   Nagashima, Yukiko ^a   Yamamoto, Shigeru ^a   Oka, Masaaki ^a   Hinoda, Yuji ^a   Sasaki, Kohsuke ^a  

^a YAMAGUCHI UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

Author keywords

Breast cancer susceptibility; CGH; CNV; Digital PCR; Real time PCR

Indexed keywords

DNA; TELOMERASE REVERSE TRANSCRIPTASE;

ARTICLE; BREAST CANCER; CANCER RISK; CANCER SUSCEPTIBILITY; CHROMOSOME 15Q; CHROMOSOME 1P; CHROMOSOME 22Q; CHROMOSOME 3Q; CLINICAL ARTICLE; COMPARATIVE GENOMIC HYBRIDIZATION; COMPUTER PROGRAM; CONTROLLED STUDY; COPY NUMBER VARIATION; FAMILY HISTORY; FEMALE; GENETIC ASSOCIATION; GERM LINE; HUMAN; JAPANESE; PREDICTIVE VALUE; PRIORITY JOURNAL; QUANTITATIVE ANALYSIS; REAL TIME POLYMERASE CHAIN REACTION; RISK ASSESSMENT; SENSITIVITY AND SPECIFICITY; ASIAN; BLOOD; BREAST TUMOR; CASE CONTROL STUDY; COMPARATIVE STUDY; GENETIC PREDISPOSITION; GENETICS; GENOTYPE; GERM CELL; JAPAN; METABOLISM; MIDDLE AGED; PROGNOSIS; SURVIVAL RATE;

ASIAN CONTINENTAL ANCESTRY GROUP; BREAST NEOPLASMS; CASE-CONTROL STUDIES; COMPARATIVE GENOMIC HYBRIDIZATION; DNA; DNA COPY NUMBER VARIATIONS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; GERM CELLS; HUMANS; JAPAN; MIDDLE AGED; PROGNOSIS; REAL-TIME POLYMERASE CHAIN REACTION; SURVIVAL RATE;

MLCS; MLOWN;

EID: 84877145929     PISSN: 10104283     EISSN: 14230380     Source Type: Journal    
DOI: 10.1007/s13277-012-0630-x     Document Type: Article

References (29)

1. Lichtenstein P, Holm NV, Verkasalo PK, Iliadou A, Kaprio J, Koskenvuo M, et al. Environmental and heritable factors in the causation of cancer - analyses of cohorts of twins from Sweden, Denmark, and Finland. N Engl J Med. 2000;343(2):78-85.
2. Stratton MR, Rahman N. The emerging landscape of breast cancer susceptibility. Nat Genet. 2008;40(1):17-22.
3. Zhang B, Beeghly-Fadiel A, Long J, Zheng W. Genetic variants associated with breast-cancer risk: comprehensive research synopsis, meta-analysis, and epidemiological evidence. Lancet Oncol. 2011;12(5):477-88.
4. Iafrate AJ, Feuk L, Rivera MN, Listewnik ML, Donahoe PK, Qi Y, et al. Detection of large-scale variation in the human genome. Nat Genet. 2004;36(9):949-51.
5. Sebat J, Lakshmi B, Troge J, Alexander J, Young J, Lundin P, et al. Large-scale copy number polymorphism in the human genome. Science. 2004;305(5683):525-8.
6. Diskin SJ, Hou C, Glessner JT, Attiyeh EF, Laudenslager M, Bosse K, et al. Copy number variation at 1q21.1 associated with neuroblastoma. Nature. 2009;459(7249):987-91.
7. Stranger BE, Forrest MS, Dunning M, Ingle CE, Beazley C, Thorne N, et al. Relative impact of nucleotide and copy number variation on gene expression phenotypes. Science. 2007;315(5813):848-53.
8. Fanciulli M, Petretto E, Aitman TJ. Gene copy number variation and common human disease. Clin Genet. 2010;77(3):201-13.
9. Malhotra D, Sebat J. CNVs: harbingers of a rare variant revolution in psychiatric genetics. Cell. 2012;148(6):1223-41.
10. Craddock N, Hurles ME, Cardin N, Pearson RD, Plagnol V, Robson S, et al. Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls. Nature. 2010;464(7289):713-20.
11. Liu W, Sun J, Li G, Zhu Y, Zhang S, Kim ST, et al. Association of a germ-line copy number variation at 2p24.3 and risk for aggressive prostate cancer. Cancer Res. 2009;69(6):2176-9.
12. Lucito R, Suresh S, Walter K, Pandey A, Lakshmi B, Krasnitz A, et al. Copy-number variants in patients with a strong family history of pancreatic cancer. Canc Biol Ther. 2007;6(10):1592-9.
13. Thean LF, Loi C, Ho KS, Koh PK, Eu KW, Cheah PY. Genome-wide scan identifies a copy number variable region at 3q26 that regulates PPM1L in APC mutation-negative familial colorectal cancer patients. Gene Chromosome Canc. 2010;49(2):99-106.
14. Venkatachalam R, Verwiel ET, Kamping EJ, Hoenselaar E, Gorgens H, Schackert HK, et al. Identification of candidate predisposing copy number variants in familial and early-onset colorectal cancer patients. Int J Cancer. 2011;129(7):1635-42.
15. Yoshihara K, Tajima A, Adachi S, Quan J, Sekine M, Kase H, et al. Germline copy number variations in BRCA1-associated ovarian cancer patients. Gene Chromosome Canc. 2011;50(3):167-77.
16. Krepischi AC, Achatz MI, Santos EM, Costa SS, Lisboa BC, Brentani H, et al. Germline DNA copy number variation in familial and early-onset breast cancer. Breast Canc Res. 2012;14(1):R24.
17. Hindson BJ, Ness KD, Masquelier DA, Belgrader P, Heredia NJ, Makarewicz AJ, et al. High-throughput droplet digital PCR system for absolute quantitation of DNA copy number. Anal Chem. 2011;83(22):8604-10.
18. Pinheiro LB, Coleman VA, Hindson CM, Herrmann J, Hindson BJ, Bhat S, et al. Evaluation of a droplet digital polymerase chain reaction format for DNA copy number quantification. Anal Chem. 2012;84(2):1003-11.
19. Carter NP. Methods and strategies for analyzing copy number variation using DNA microarrays. Nat Genet. 2007;39(7 Suppl):S16-21.
20. Lee C, Iafrate AJ, Brothman AR. Copy number variations and clinical cytogenetic diagnosis of constitutional disorders. Nat Genet. 2007;39(7 Suppl):S48-54.
21. Pinto D, Darvishi K, Shi X, Rajan D, Rigler D, Fitzgerald T, et al. Comprehensive assessment of array-based platforms and calling algorithms for detection of copy number variants. Nat Biotechnol. 2011;29(6):512-20.
22. Tucker T, Montpetit A, Chai D, Chan S, Chenier S, Coe BP, et al. Comparison of genome-wide array genomic hybridization platforms for the detection of copy number variants in idiopathic mental retardation. BMC Med Genomics. 2011;4:25.
23. Marcet-Palacios M, Duggan BL, Shostak I, Barry M, Geskes T, Wilkins JA, et al. Granzyme B inhibits vaccinia virus production through proteolytic cleavage of eukaryotic initiation factor 4 gamma 3. PLoS Pathog. 2011;7(12):e1002447.
24. Molloy SS, Anderson ED, Jean F, Thomas G. Bi-cycling the furin pathway: from TGN localization to pathogen activation and embryogenesis. Trends Cell Biol. 1999;9(1):28-35.
25. Mahloogi H, Bassi DE, Klein-Szanto AJ. Malignant conversion of non-tumorigenic murine skin keratinocytes overexpressing PACE4. Carcinogenesis. 2002;23(4):565-72.
26. Fu Y, Campbell EJ, Shepherd TG, Nachtigal MW. Epigenetic regulation of proprotein convertase PACE4 gene expression in human ovarian cancer cells. Mol Canc Res. 2003;1(8):569-76.
27. Lapierre M, Siegfried G, Scamuffa N, Bontemps Y, Calvo F, Seidah NG, et al. Opposing function of the proprotein convertases furin and PACE4 on breast cancer cells' malignant phenotypes: role of tissue inhibitors of metalloproteinase-1. Cancer Res. 2007;67(19):9030-4.
28. Tsai MC, Manor O, Wan Y, Mosammaparast N, Wang JK, Lan F, et al. Long noncoding RNA as modular scaffold of histone modification complexes. Science. 2010;329(5992):689-93.
29. Kato H, Sobue T, Katanoda K, Saito Y, Tsukuma H, Saruki N, et al. Cancer Statistics in Japan. Tokyo: Foundation for Promotion of Cancer Research; 2012.