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Volumn 88, Issue 4, 2015, Pages 366-370

Mutations predisposing to breast cancer in 12 candidate genes in breast cancer patients from Poland

Author keywords

ATM; BRCA1; BRCA2; Breast cancer; BRIP; CHEK2; Hereditary; Mutation; PALB2; Whole exome sequencing

Indexed keywords

ADULT; ARTICLE; BREAST CANCER; EXOME; FEMALE; GENE MUTATION; GENETIC PREDISPOSITION; GENETIC SUSCEPTIBILITY; HUMAN; MAJOR CLINICAL STUDY; ONCOGENE; POLAND; PRIORITY JOURNAL; SEQUENCE ANALYSIS; TUMOR SUPPRESSOR GENE; BREAST TUMOR; DNA MUTATIONAL ANALYSIS; FOUNDER EFFECT; GENETIC SCREENING; GENETICS;

EID: 84941640729     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/cge.12524     Document Type: Article
Times cited : (31)

References (32)
  • 1
    • 62449249871 scopus 로고    scopus 로고
    • Beyond Li Fraumeni Syndrome: clinical characteristics of families with p53 germline mutations
    • Gonzalez KD, Noltner KA, Buzin CH et al. Beyond Li Fraumeni Syndrome: clinical characteristics of families with p53 germline mutations. J Clin Oncol 2009: 27: 1250-1256.
    • (2009) J Clin Oncol , vol.27 , pp. 1250-1256
    • Gonzalez, K.D.1    Noltner, K.A.2    Buzin, C.H.3
  • 3
    • 33846625493 scopus 로고    scopus 로고
    • PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene
    • Rahman N, Seal S, Thompson D et al. PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene. Nat Genet 2007: 39: 165-167.
    • (2007) Nat Genet , vol.39 , pp. 165-167
    • Rahman, N.1    Seal, S.2    Thompson, D.3
  • 4
    • 38349052915 scopus 로고    scopus 로고
    • Nijmegen Breakage Syndrome mutations and risk of breast cancer
    • Bogdanova N, Feshchenko S, Schürmann P et al. Nijmegen Breakage Syndrome mutations and risk of breast cancer. Int J Cancer 2008: 122: 802-806.
    • (2008) Int J Cancer , vol.122 , pp. 802-806
    • Bogdanova, N.1    Feshchenko, S.2    Schürmann, P.3
  • 5
    • 77149149958 scopus 로고    scopus 로고
    • Cancer predisposing missense and protein truncating BARD1 mutations in non-BRCA1 or BRCA2 breast cancer families
    • De Brakeleer S, De Grève J, Loris R et al. Cancer predisposing missense and protein truncating BARD1 mutations in non-BRCA1 or BRCA2 breast cancer families. Hum Mutat 2010: 31: E1175-E1185.
    • (2010) Hum Mutat , vol.31 , pp. E1175-E1185
    • De Brakeleer, S.1    De Grève, J.2    Loris, R.3
  • 6
    • 18544389716 scopus 로고    scopus 로고
    • Low-penetrance susceptibility to breast cancer due to CHEK2(*)1100delC in noncarriers of BRCA1 or BRCA2 mutations
    • Meijers-Heijboer H, van den Ouweland A, Klijn J et al. Low-penetrance susceptibility to breast cancer due to CHEK2(*)1100delC in noncarriers of BRCA1 or BRCA2 mutations. Nat Genet 2002: 31: 55-59.
    • (2002) Nat Genet , vol.31 , pp. 55-59
    • Meijers-Heijboer, H.1    van den Ouweland, A.2    Klijn, J.3
  • 7
    • 84859479737 scopus 로고    scopus 로고
    • Rare mutations in XRCC2 increase the risk of breast cancer
    • Park DJ, Lesueur F, Nguyen-Dumont T et al. Rare mutations in XRCC2 increase the risk of breast cancer. Am J Hum Genet 2012: 90: 734-739.
    • (2012) Am J Hum Genet , vol.90 , pp. 734-739
    • Park, D.J.1    Lesueur, F.2    Nguyen-Dumont, T.3
  • 8
    • 84880630260 scopus 로고    scopus 로고
    • Nonsense mutation p.Q548X in BLM, the gene mutated in Bloom's syndrome, is associated with breast cancer in Slavic populations
    • Prokofyeva D, Bogdanova N, Dubrowinskaja N et al. Nonsense mutation p.Q548X in BLM, the gene mutated in Bloom's syndrome, is associated with breast cancer in Slavic populations. Breast Cancer Res Treat 2013: 137: 533-539.
    • (2013) Breast Cancer Res Treat , vol.137 , pp. 533-539
    • Prokofyeva, D.1    Bogdanova, N.2    Dubrowinskaja, N.3
  • 9
    • 33750465216 scopus 로고    scopus 로고
    • Truncating mutations in the Fanconi anemia J gene BRIP1 are low-penetrance breast cancer susceptibility alleles
    • Seal S, Thompson D, Renwick A et al. Truncating mutations in the Fanconi anemia J gene BRIP1 are low-penetrance breast cancer susceptibility alleles. Nat Genet 2006: 38: 1239-1241.
    • (2006) Nat Genet , vol.38 , pp. 1239-1241
    • Seal, S.1    Thompson, D.2    Renwick, A.3
  • 10
    • 33746491583 scopus 로고    scopus 로고
    • ATM mutations that cause ataxia-telangiectasia are breast cancer susceptibility alleles
    • Renwick A, Thompson D, Seal S et al. ATM mutations that cause ataxia-telangiectasia are breast cancer susceptibility alleles. Nat Genet 2006: 38: 873-875.
    • (2006) Nat Genet , vol.38 , pp. 873-875
    • Renwick, A.1    Thompson, D.2    Seal, S.3
  • 11
    • 84901328103 scopus 로고    scopus 로고
    • The validation and clinical implementation of BRCA plus: a comprehensive high-risk breast cancer diagnostic assay
    • Chong HK, Wang T, Lu HM et al. The validation and clinical implementation of BRCA plus: a comprehensive high-risk breast cancer diagnostic assay. PLoS One 2014: 9: e97408.
    • (2014) PLoS One , vol.9 , pp. e97408
    • Chong, H.K.1    Wang, T.2    Lu, H.M.3
  • 12
    • 84904750123 scopus 로고    scopus 로고
    • Clinical evaluation of a multiple-gene sequencing panel for hereditary cancer risk assessment
    • Kurian AW, Hare EE, Mills MA et al. Clinical evaluation of a multiple-gene sequencing panel for hereditary cancer risk assessment. J Clin Oncol 2014: 32: 2001-2009.
    • (2014) J Clin Oncol , vol.32 , pp. 2001-2009
    • Kurian, A.W.1    Hare, E.E.2    Mills, M.A.3
  • 13
    • 84908881428 scopus 로고    scopus 로고
    • Utilization of multigene panels in hereditary cancer predisposition testing: analysis of more than 2,000 patients
    • Laduca H, Laduca H, Stuenkel AJ, et al. Utilization of multigene panels in hereditary cancer predisposition testing: analysis of more than 2, 000 patients. Genet Med 2014, doi:10.1038/gim.2014.40
    • (2014) Genet Med
    • Laduca, H.1    Laduca, H.2    Stuenkel, A.J.3
  • 14
    • 84918798338 scopus 로고    scopus 로고
    • Frequency of mutations in individuals with breast cancer referred for BRCA1 and BRCA2 testing using next-generation sequencing with a 25-gene panel
    • Tung N, Battelli C, Allen B, et al. Frequency of mutations in individuals with breast cancer referred for BRCA1 and BRCA2 testing using next-generation sequencing with a 25-gene panel. Cancer 2014, 10.1002/cncr29010
    • (2014) Cancer
    • Tung, N.1    Battelli, C.2    Allen, B.3
  • 15
    • 84922751155 scopus 로고    scopus 로고
    • Recurrent mutations of BRCA1 and BRCA2 in Poland: an update
    • Szwiec M, Jakubowska A, Górski B, et al. Recurrent mutations of BRCA1 and BRCA2 in Poland: an update. Clin Genet 2014. 10.1111/cge.12360.
    • (2014) Clin Genet
    • Szwiec, M.1    Jakubowska, A.2    Górski, B.3
  • 16
    • 33847163983 scopus 로고    scopus 로고
    • A deletion in CHEK2 of 5,395bp predisposes to breast cancer in Poland
    • Cybulski C, Wokołorczyk D, Huzarski T et al. A deletion in CHEK2 of 5, 395bp predisposes to breast cancer in Poland. Breast Cancer Res Treat 2007: 102: 119-122.
    • (2007) Breast Cancer Res Treat , vol.102 , pp. 119-122
    • Cybulski, C.1    Wokołorczyk, D.2    Huzarski, T.3
  • 17
    • 33745225487 scopus 로고    scopus 로고
    • Germline mutations 657del5 of the NBS1 gene contribute significantly to the incidence of breast cancer in Central Poland
    • Steffen J, Nowakowska D, Niwińska A et al. Germline mutations 657del5 of the NBS1 gene contribute significantly to the incidence of breast cancer in Central Poland. Int J Cancer 2006: 119: 472-475.
    • (2006) Int J Cancer , vol.119 , pp. 472-475
    • Steffen, J.1    Nowakowska, D.2    Niwińska, A.3
  • 18
    • 79960078862 scopus 로고    scopus 로고
    • Prevalence of the most frequent BRCA1 mutations in Polish population
    • Brozek I, Cybulska C, Ratajska M et al. Prevalence of the most frequent BRCA1 mutations in Polish population. J Appl Genet 2011: 52: 325-330.
    • (2011) J Appl Genet , vol.52 , pp. 325-330
    • Brozek, I.1    Cybulska, C.2    Ratajska, M.3
  • 19
    • 0038505600 scopus 로고    scopus 로고
    • Germline 657del5 mutation in the NBS1 gene in breast cancer patients
    • Gorski B, Debniak T, Masojć B et al. Germline 657del5 mutation in the NBS1 gene in breast cancer patients. Int J Cancer 2003: 106: 379-381.
    • (2003) Int J Cancer , vol.106 , pp. 379-381
    • Gorski, B.1    Debniak, T.2    Masojć, B.3
  • 20
    • 18444379055 scopus 로고    scopus 로고
    • A CHEK2 genetic variant contributing to a substantial fraction of familial breast cancer
    • Vahteristo P, Bartkova J, Eerola H et al. A CHEK2 genetic variant contributing to a substantial fraction of familial breast cancer. Am J Hum Genet 2002: 71: 432-438.
    • (2002) Am J Hum Genet , vol.71 , pp. 432-438
    • Vahteristo, P.1    Bartkova, J.2    Eerola, H.3
  • 22
    • 84941704572 scopus 로고    scopus 로고
    • DNA Sequencing Costs: Data from the NHGRI Genome Sequencing Program (GSP), from:. Accessed on July 15, 2014.
    • Wetterstrand, K. DNA Sequencing Costs: Data from the NHGRI Genome Sequencing Program (GSP), from: http://www.genome.gov/sequencingcosts. Accessed on July 15, 2014.
    • Wetterstrand, K.1
  • 23
    • 67649884743 scopus 로고    scopus 로고
    • Fast and accurate short read alignment with Burrows-Wheeler transform
    • Li H, Durbin R. Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics 2009: 25: 1754-1760.
    • (2009) Bioinformatics , vol.25 , pp. 1754-1760
    • Li, H.1    Durbin, R.2
  • 24
    • 84941704573 scopus 로고    scopus 로고
    • Picard, from. Accessed on July 15, 2014.
    • Picard, from http://picard.sourceforge.net. Accessed on July 15, 2014.
  • 25
    • 77956295988 scopus 로고    scopus 로고
    • The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data
    • McKenna A, Hanna M, Banks E et al. The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. Genome Res 2010: 20: 1297-1303.
    • (2010) Genome Res , vol.20 , pp. 1297-1303
    • McKenna, A.1    Hanna, M.2    Banks, E.3
  • 26
    • 79952741549 scopus 로고    scopus 로고
    • Contribution of inherited mutations in the BRCA2-interacting protein PALB2 to familial breast cancer
    • Casadei S, Norquist BM, Walsh T et al. Contribution of inherited mutations in the BRCA2-interacting protein PALB2 to familial breast cancer. Cancer Res 2011: 71: 2222-2229.
    • (2011) Cancer Res , vol.71 , pp. 2222-2229
    • Casadei, S.1    Norquist, B.M.2    Walsh, T.3
  • 27
    • 84903171311 scopus 로고    scopus 로고
    • Prevalence of PALB2 mutation c.509_510delGA in unselected breast cancer patients from Central and Eastern Europe
    • Noskowicz M, Bogdanova N, Bermisheva M et al. Prevalence of PALB2 mutation c.509_510delGA in unselected breast cancer patients from Central and Eastern Europe. Fam Cancer 2014: 13: 137-142.
    • (2014) Fam Cancer , vol.13 , pp. 137-142
    • Noskowicz, M.1    Bogdanova, N.2    Bermisheva, M.3
  • 28
    • 77649148280 scopus 로고    scopus 로고
    • A novel germline PALB2 deletion in Polish breast and ovarian cancer patients
    • Dansonka-Mieszkowska A, Kluska A, Moes J et al. A novel germline PALB2 deletion in Polish breast and ovarian cancer patients. BMC Med Genet 2010: 11: 20.
    • (2010) BMC Med Genet , vol.11 , pp. 20
    • Dansonka-Mieszkowska, A.1    Kluska, A.2    Moes, J.3
  • 29
    • 84890040763 scopus 로고    scopus 로고
    • The PALB2 gene is a strong candidate for clinical testing in BRCA1- and BRCA2-negative hereditary breast cancer
    • Janatova M, Kleibl Z, Stribrna J et al. The PALB2 gene is a strong candidate for clinical testing in BRCA1- and BRCA2-negative hereditary breast cancer. Cancer Epidemiol Biomarkers Prev 2013: 22: 2323-2332.
    • (2013) Cancer Epidemiol Biomarkers Prev , vol.22 , pp. 2323-2332
    • Janatova, M.1    Kleibl, Z.2    Stribrna, J.3
  • 30
    • 84905842087 scopus 로고    scopus 로고
    • Breast cancer risks in families with mutations in PALB2
    • Antoniou AC, Casadei S, Heikkinen T et al. Breast cancer risks in families with mutations in PALB2. N Engl J Med 2014: 7: 497-506.
    • (2014) N Engl J Med , vol.7 , pp. 497-506
    • Antoniou, A.C.1    Casadei, S.2    Heikkinen, T.3
  • 31
    • 70350490327 scopus 로고    scopus 로고
    • Rare, evolutionarily unlikely missense substitutions in ATM confer increased risk of breast cancer
    • Tavtigian SV, Oefner PJ, Babikyan D et al. Rare, evolutionarily unlikely missense substitutions in ATM confer increased risk of breast cancer. Am J Hum Genet 2009: 85: 427-446.
    • (2009) Am J Hum Genet , vol.85 , pp. 427-446
    • Tavtigian, S.V.1    Oefner, P.J.2    Babikyan, D.3
  • 32
    • 84856210264 scopus 로고    scopus 로고
    • Cancer predisposing BARD1 mutations in breast-ovarian cancer families
    • Ratajska M, Antoszewska E, Piskorz A et al. Cancer predisposing BARD1 mutations in breast-ovarian cancer families. Breast Cancer Res Treat 2012: 131: 89-97.
    • (2012) Breast Cancer Res Treat , vol.131 , pp. 89-97
    • Ratajska, M.1    Antoszewska, E.2    Piskorz, A.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.