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Volumn 56, Issue 2, 2015, Pages 193-198

Mutational analysis of BRCA1/2 in a group of 134 consecutive ovarian cancer patients. Novel and recurrent BRCA1/2 alterations detected by next generation sequencing

Author keywords

BRCA1; BRCA2; Mutations; Next generation sequencing; Ovarian cancer; PARP inhibitors

Indexed keywords

ADULT; AGED; FEMALE; GENETIC SCREENING; GENETICS; GERMLINE MUTATION; HIGH THROUGHPUT SEQUENCING; HUMAN; MIDDLE AGED; NUCLEOTIDE SEQUENCE; OVARY TUMOR; POLAND; TUMOR SUPPRESSOR GENE; VERY ELDERLY;

EID: 84939969051     PISSN: 12341983     EISSN: None     Source Type: Journal    
DOI: 10.1007/s13353-014-0254-5     Document Type: Article
Times cited : (21)

References (31)
  • 3
    • 38649137993 scopus 로고    scopus 로고
    • High frequency of BRCA1/2 germline mutations in consecutive ovarian cancer patients in Poland
    • COI: 1:CAS:528:DC%2BD1cXhtlOqtbg%3D, PID: 17997147
    • Brozek I, Ochman K, Debniak J, Morzuch L, Ratajska M, Stepnowska M, Stukan M, Emerich J, Limon J (2008) High frequency of BRCA1/2 germline mutations in consecutive ovarian cancer patients in Poland. Gynecol Oncol 108:433–437. doi:10.1016/j.ygyno.2007.09.035
    • (2008) Gynecol Oncol , vol.108 , pp. 433-437
    • Brozek, I.1    Ochman, K.2    Debniak, J.3    Morzuch, L.4    Ratajska, M.5    Stepnowska, M.6    Stukan, M.7    Emerich, J.8    Limon, J.9
  • 7
    • 0142009654 scopus 로고    scopus 로고
    • A requirement for PARP-1 for the assembly or stability of XRCC1 nuclear foci at sites of oxidative DNA damage
    • COI: 1:CAS:528:DC%2BD3sXns1CntLg%3D, PID: 14500814
    • El-Khamisy SF, Masutani M, Suzuki H, Caldecott KW (2003) A requirement for PARP-1 for the assembly or stability of XRCC1 nuclear foci at sites of oxidative DNA damage. Nucleic Acids Res 31:5526–5533. doi:10.1093/nar/gkg761
    • (2003) Nucleic Acids Res , vol.31 , pp. 5526-5533
    • El-Khamisy, S.F.1    Masutani, M.2    Suzuki, H.3    Caldecott, K.W.4
  • 11
    • 84870460304 scopus 로고    scopus 로고
    • High frequency of BRCA1 founder mutations in Polish women with nonfamilial breast cancer
    • COI: 1:CAS:528:DC%2BC38Xhs1ShsbnM, PID: 22864640
    • Gaj P, Kluska A, Nowakowska D, Balabas A, Piatkowska M, Dabrowska M, Niwinska A, Ostrowski J (2012) High frequency of BRCA1 founder mutations in Polish women with nonfamilial breast cancer. Fam Cancer 11:623–628. doi:10.1007/s10689-012-9560-4
    • (2012) Fam Cancer , vol.11 , pp. 623-628
    • Gaj, P.1    Kluska, A.2    Nowakowska, D.3    Balabas, A.4    Piatkowska, M.5    Dabrowska, M.6    Niwinska, A.7    Ostrowski, J.8
  • 17
    • 0028865245 scopus 로고
    • Post-translational modification of poly(ADP-ribose) polymerase induced by DNA strand breaks
    • COI: 1:CAS:528:DyaK2MXptVajtLY%3D, PID: 8533153
    • Lindahl T, Satoh MS, Poirier GG, Klungland A (1995) Post-translational modification of poly(ADP-ribose) polymerase induced by DNA strand breaks. Trends Biochem Sci 20:405–411. doi:10.1016/s0968-0004(00)89089-1
    • (1995) Trends Biochem Sci , vol.20 , pp. 405-411
    • Lindahl, T.1    Satoh, M.S.2    Poirier, G.G.3    Klungland, A.4
  • 19
    • 23844507839 scopus 로고    scopus 로고
    • Prognostic impact of BRCA1 pathogenic and BRCA1/BRCA2 unclassified variant mutations in patients with ovarian carcinoma
    • PID: 16047333
    • Majdak EJ, Debniak J, Milczek T, Cornelisse CJ, Devilee P, Emerich J, Jassem J, De Bock GH (2005) Prognostic impact of BRCA1 pathogenic and BRCA1/BRCA2 unclassified variant mutations in patients with ovarian carcinoma. Cancer 104:1004–1012. doi:10.1002/cncr.21276
    • (2005) Cancer , vol.104 , pp. 1004-1012
    • Majdak, E.J.1    Debniak, J.2    Milczek, T.3    Cornelisse, C.J.4    Devilee, P.5    Emerich, J.6    Jassem, J.7    De Bock, G.H.8
  • 20
    • 1642554820 scopus 로고    scopus 로고
    • One in 10 ovarian cancer patients carry germ line BRCA1 or BRCA2 mutations: results of a prospective study in southern Sweden
    • COI: 1:CAS:528:DC%2BD2cXmvFGjsw%3D%3D, PID: 14746861
    • Malander S, Ridderheim M, Masback A, Loman N, Kristoffersson U, Olsson H, Nilbert M, Borg A (2004) One in 10 ovarian cancer patients carry germ line BRCA1 or BRCA2 mutations: results of a prospective study in southern Sweden. Eur J Cancer 40:422–428. doi:10.1016/j.ejca.2003.09.016
    • (2004) Eur J Cancer , vol.40 , pp. 422-428
    • Malander, S.1    Ridderheim, M.2    Masback, A.3    Loman, N.4    Kristoffersson, U.5    Olsson, H.6    Nilbert, M.7    Borg, A.8
  • 26
    • 84890418327 scopus 로고    scopus 로고
    • Large BRCA1 and BRCA2 genomic rearrangements in polish high-risk breast and ovarian cancer families
    • COI: 1:CAS:528:DC%2BC3sXhsFSls7rM, PID: 24065545
    • Rudnicka H, Debniak T, Cybulski C, Huzarski T, Gronwald J, Lubinski J, Gorski B (2013) Large BRCA1 and BRCA2 genomic rearrangements in polish high-risk breast and ovarian cancer families. Mol Biol Rep 40:6619–6623. doi:10.1007/s11033-013-2775-0
    • (2013) Mol Biol Rep , vol.40 , pp. 6619-6623
    • Rudnicka, H.1    Debniak, T.2    Cybulski, C.3    Huzarski, T.4    Gronwald, J.5    Lubinski, J.6    Gorski, B.7
  • 27
    • 0029864134 scopus 로고    scopus 로고
    • Genetic testing for cancer suscepti bility, adopted on February 20, 1996
    • Statement of the American Society of Clinical Oncology (1996) Genetic testing for cancer suscepti bility, adopted on February 20, 1996. J Clin Oncol 14(5):1730–1736, discussion 1737–40
    • (1996) J Clin Oncol 14(5):1730–1736, discussion , pp. 1737-1740
  • 28
    • 0033866487 scopus 로고    scopus 로고
    • The breast cancer information core: database design, structure, and scope
    • COI: 1:CAS:528:DC%2BD3cXlvFKgt7k%3D, PID: 10923033
    • Szabo C, Masiello A, Ryan JF, Brody LC (2000) The breast cancer information core: database design, structure, and scope. Hum Mutat 16:123–131. doi:10.1002/1098-1004(200008)16:2<123::AID-HUMU4>3.0.CO;2-Y
    • (2000) Hum Mutat , vol.16 , pp. 123-131
    • Szabo, C.1    Masiello, A.2    Ryan, J.F.3    Brody, L.C.4
  • 30
    • 0034181354 scopus 로고    scopus 로고
    • Founder BRCA1 mutations and two novel germline BRCA2 mutations in breast and/or ovarian cancer families from north-eastern Poland
    • van Der Looij M, Wysocka B, Brozek I, Jassem J, Limon J, Olah E (2000) Founder BRCA1 mutations and two novel germline BRCA2 mutations in breast and/or ovarian cancer families from north-eastern Poland. Hum Mutat 15:480–481. doi:10.1002/(SICI)1098-1004(200005)15:5<480::AID-HUMU13>3.0.CO;2-G
    • (2000) Hum Mutat , vol.15 , pp. 480-481
    • van Der Looij, M.1    Wysocka, B.2    Brozek, I.3    Jassem, J.4    Limon, J.5    Olah, E.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.