메뉴 건너뛰기




Volumn 12, Issue , 2012, Pages

Germline truncating-mutations in BRCA1 and MSH6 in a patient with early onset endometrial cancer

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; BRCA1 PROTEIN; BRCA2 PROTEIN; DNA; MISMATCH REPAIR PROTEIN PMS2; PROTEIN MLH1; PROTEIN MSH2; PROTEIN MSH6; SERINE;

EID: 84869161931     PISSN: None     EISSN: 14712407     Source Type: Journal    
DOI: 10.1186/1471-2407-12-531     Document Type: Article
Times cited : (13)

References (33)
  • 1
    • 0038744296 scopus 로고    scopus 로고
    • Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case Series unselected for family history: a combined analysis of 22 studies
    • 10.1086/375033, 1180265, 12677558
    • Antoniou A, Pharoah PD, Narod S, Risch HA, Eyfjord JE, Hopper JL, Loman N, Olsson H, Johannsson O, Borg A, et al. Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case Series unselected for family history: a combined analysis of 22 studies. Am J Hum Genet 2003, 72(5):1117-1130. 10.1086/375033, 1180265, 12677558.
    • (2003) Am J Hum Genet , vol.72 , Issue.5 , pp. 1117-1130
    • Antoniou, A.1    Pharoah, P.D.2    Narod, S.3    Risch, H.A.4    Eyfjord, J.E.5    Hopper, J.L.6    Loman, N.7    Olsson, H.8    Johannsson, O.9    Borg, A.10
  • 2
    • 0142178215 scopus 로고    scopus 로고
    • Breast and ovarian cancer risks due to inherited mutations in BRCA1 and BRCA2
    • 10.1126/science.1088759, 14576434
    • King MC, Marks JH, Mandell JB. Breast and ovarian cancer risks due to inherited mutations in BRCA1 and BRCA2. Science 2003, 302(5645):643-646. 10.1126/science.1088759, 14576434.
    • (2003) Science , vol.302 , Issue.5645 , pp. 643-646
    • King, M.C.1    Marks, J.H.2    Mandell, J.B.3
  • 3
    • 0037422027 scopus 로고    scopus 로고
    • Hereditary colorectal cancer
    • 10.1056/NEJMra012242, 12621137
    • Lynch HT, de la Chapelle A. Hereditary colorectal cancer. N Engl J Med 2003, 348(10):919-932. 10.1056/NEJMra012242, 12621137.
    • (2003) N Engl J Med , vol.348 , Issue.10 , pp. 919-932
    • Lynch, H.T.1    de la Chapelle, A.2
  • 8
    • 79958071334 scopus 로고    scopus 로고
    • Cancer risks associated with germline mutations in MLH1, MSH2, and MSH6 genes in Lynch syndrome
    • 10.1001/jama.2011.743, 21642682
    • Bonadona V, Bonaiti B, Olschwang S, Grandjouan S, Huiart L, Longy M, Guimbaud R, Buecher B, Bignon YJ, Caron O, et al. Cancer risks associated with germline mutations in MLH1, MSH2, and MSH6 genes in Lynch syndrome. JAMA 2011, 305(22):2304-2310. 10.1001/jama.2011.743, 21642682.
    • (2011) JAMA , vol.305 , Issue.22 , pp. 2304-2310
    • Bonadona, V.1    Bonaiti, B.2    Olschwang, S.3    Grandjouan, S.4    Huiart, L.5    Longy, M.6    Guimbaud, R.7    Buecher, B.8    Bignon, Y.J.9    Caron, O.10
  • 9
    • 14644396669 scopus 로고    scopus 로고
    • Lower incidence of colorectal cancer and later age of disease onset in 27 families with pathogenic MSH6 germline mutations compared with families with MLH1 or MSH2 mutations: the German Hereditary Nonpolyposis Colorectal Cancer Consortium
    • 10.1200/JCO.2004.02.033, 15483016
    • Plaschke J, Engel C, Kruger S, Holinski-Feder E, Pagenstecher C, Mangold E, Moeslein G, Schulmann K, Gebert J, von Knebel Doeberitz M, et al. Lower incidence of colorectal cancer and later age of disease onset in 27 families with pathogenic MSH6 germline mutations compared with families with MLH1 or MSH2 mutations: the German Hereditary Nonpolyposis Colorectal Cancer Consortium. J Clin Oncol 2004, 22(22):4486-4494. 10.1200/JCO.2004.02.033, 15483016.
    • (2004) J Clin Oncol , vol.22 , Issue.22 , pp. 4486-4494
    • Plaschke, J.1    Engel, C.2    Kruger, S.3    Holinski-Feder, E.4    Pagenstecher, C.5    Mangold, E.6    Moeslein, G.7    Schulmann, K.8    Gebert, J.9    von Knebel Doeberitz, M.10
  • 10
    • 0031551963 scopus 로고    scopus 로고
    • A National Cancer Institute Workshop on Hereditary Nonpolyposis Colorectal Cancer Syndrome: meeting highlights and Bethesda guidelines
    • 10.1093/jnci/89.23.1758, 9392616
    • Rodriguez-Bigas MA, Boland CR, Hamilton SR, Henson DE, Jass JR, Khan PM, Lynch H, Perucho M, Smyrk T, Sobin L, et al. A National Cancer Institute Workshop on Hereditary Nonpolyposis Colorectal Cancer Syndrome: meeting highlights and Bethesda guidelines. J Natl Cancer Inst 1997, 89(23):1758-1762. 10.1093/jnci/89.23.1758, 9392616.
    • (1997) J Natl Cancer Inst , vol.89 , Issue.23 , pp. 1758-1762
    • Rodriguez-Bigas, M.A.1    Boland, C.R.2    Hamilton, S.R.3    Henson, D.E.4    Jass, J.R.5    Khan, P.M.6    Lynch, H.7    Perucho, M.8    Smyrk, T.9    Sobin, L.10
  • 11
    • 0036466858 scopus 로고    scopus 로고
    • Comprehensive analysis of 989 patients with breast or ovarian cancer provides BRCA1 and BRCA2 mutation profiles and frequencies for the German population
    • German Consortium for Hereditary Breast and Ovarian Cancer
    • Meindl A, German Consortium for Hereditary Breast and Ovarian Cancer Comprehensive analysis of 989 patients with breast or ovarian cancer provides BRCA1 and BRCA2 mutation profiles and frequencies for the German population. Int J Cancer 2002, 97(4):472-480. German Consortium for Hereditary Breast and Ovarian Cancer.
    • (2002) Int J Cancer , vol.97 , Issue.4 , pp. 472-480
    • Meindl, A.1
  • 12
    • 0031732316 scopus 로고    scopus 로고
    • Implications of a novel cryptic splice site in the BRCA1 gene
    • 10.1002/(SICI)1096-8628(19981102)80:2<140::AID-AJMG10>3.0.CO;2-L, 9805131
    • Hoffman JD, Hallam SE, Venne VL, Lyon E, Ward K. Implications of a novel cryptic splice site in the BRCA1 gene. Am J Med Genet 1998, 80(2):140-144. 10.1002/(SICI)1096-8628(19981102)80:2<140::AID-AJMG10>3.0.CO;2-L, 9805131.
    • (1998) Am J Med Genet , vol.80 , Issue.2 , pp. 140-144
    • Hoffman, J.D.1    Hallam, S.E.2    Venne, V.L.3    Lyon, E.4    Ward, K.5
  • 13
    • 0037050722 scopus 로고    scopus 로고
    • Involvement of hMSH6 in the development of hereditary and sporadic colorectal cancer revealed by immunostaining is based on germline mutations, but rarely on somatic inactivation
    • 10.1002/ijc.10097, 11807791
    • Plaschke J, Kruger S, Pistorius S, Theissig F, Saeger HD, Schackert HK. Involvement of hMSH6 in the development of hereditary and sporadic colorectal cancer revealed by immunostaining is based on germline mutations, but rarely on somatic inactivation. Int J Cancer 2002, 97(5):643-648. 10.1002/ijc.10097, 11807791.
    • (2002) Int J Cancer , vol.97 , Issue.5 , pp. 643-648
    • Plaschke, J.1    Kruger, S.2    Pistorius, S.3    Theissig, F.4    Saeger, H.D.5    Schackert, H.K.6
  • 14
    • 0033971669 scopus 로고    scopus 로고
    • Sequence analysis of the mismatch repair gene hMSH6 in the germline of patients with familial and sporadic colorectal cancer
    • 10.1002/(SICI)1097-0215(20000301)85:5<606::AID-IJC2>3.0.CO;2-B, 10699937
    • Plaschke J, Kruppa C, Tischler R, Bocker T, Pistorius S, Dralle H, Ruschoff J, Saeger HD, Fishel R, Schackert HK. Sequence analysis of the mismatch repair gene hMSH6 in the germline of patients with familial and sporadic colorectal cancer. Int J Cancer 2000, 85(5):606-613. 10.1002/(SICI)1097-0215(20000301)85:5<606::AID-IJC2>3.0.CO;2-B, 10699937.
    • (2000) Int J Cancer , vol.85 , Issue.5 , pp. 606-613
    • Plaschke, J.1    Kruppa, C.2    Tischler, R.3    Bocker, T.4    Pistorius, S.5    Dralle, H.6    Ruschoff, J.7    Saeger, H.D.8    Fishel, R.9    Schackert, H.K.10
  • 16
    • 0034011602 scopus 로고    scopus 로고
    • Germline BRCA1 and HMLH1 mutations in a family with male and female breast carcinoma
    • 10.1002/(SICI)1097-0215(20000315)85:6<796::AID-IJC10>3.0.CO;2-L, 10709098
    • Borg A, Isola J, Chen J, Rubio C, Johansson U, Werelius B, Lindblom A. Germline BRCA1 and HMLH1 mutations in a family with male and female breast carcinoma. Int J Cancer 2000, 85(6):796-800. 10.1002/(SICI)1097-0215(20000315)85:6<796::AID-IJC10>3.0.CO;2-L, 10709098.
    • (2000) Int J Cancer , vol.85 , Issue.6 , pp. 796-800
    • Borg, A.1    Isola, J.2    Chen, J.3    Rubio, C.4    Johansson, U.5    Werelius, B.6    Lindblom, A.7
  • 21
    • 68449101315 scopus 로고    scopus 로고
    • Breast cancer immunohistochemistry can be useful in triage of some HNPCC families
    • 10.1007/s10689-008-9226-4, 19123071
    • Shanley S, Fung C, Milliken J, Leary J, Barnetson R, Schnitzler M, Kirk J. Breast cancer immunohistochemistry can be useful in triage of some HNPCC families. Fam Cancer 2009, 8(3):251-255. 10.1007/s10689-008-9226-4, 19123071.
    • (2009) Fam Cancer , vol.8 , Issue.3 , pp. 251-255
    • Shanley, S.1    Fung, C.2    Milliken, J.3    Leary, J.4    Barnetson, R.5    Schnitzler, M.6    Kirk, J.7
  • 22
    • 77950655236 scopus 로고    scopus 로고
    • Lynch syndrome-associated breast cancers: clinicopathologic characteristics of a case series from the colon cancer family registry
    • 10.1158/1078-0432.CCR-09-3058, 2848890, 20215533
    • Walsh MD, Buchanan DD, Cummings MC, Pearson SA, Arnold ST, Clendenning M, Walters R, McKeone DM, Spurdle AB, Hopper JL, et al. Lynch syndrome-associated breast cancers: clinicopathologic characteristics of a case series from the colon cancer family registry. Clin Cancer Res 2010, 16(7):2214-2224. 10.1158/1078-0432.CCR-09-3058, 2848890, 20215533.
    • (2010) Clin Cancer Res , vol.16 , Issue.7 , pp. 2214-2224
    • Walsh, M.D.1    Buchanan, D.D.2    Cummings, M.C.3    Pearson, S.A.4    Arnold, S.T.5    Clendenning, M.6    Walters, R.7    McKeone, D.M.8    Spurdle, A.B.9    Hopper, J.L.10
  • 24
    • 84860605783 scopus 로고    scopus 로고
    • Colorectal and other cancer risks for carriers and noncarriers from families with a DNA mismatch repair gene mutation: a prospective cohort study
    • 10.1200/JCO.2011.39.5590, 22331944
    • Win AK, Young JP, Lindor NM, Tucker KM, Ahnen DJ, Young GP, Buchanan DD, Clendenning M, Giles GG, Winship I, et al. Colorectal and other cancer risks for carriers and noncarriers from families with a DNA mismatch repair gene mutation: a prospective cohort study. J Clin Oncol 2012, 30(9):958-964. 10.1200/JCO.2011.39.5590, 22331944.
    • (2012) J Clin Oncol , vol.30 , Issue.9 , pp. 958-964
    • Win, A.K.1    Young, J.P.2    Lindor, N.M.3    Tucker, K.M.4    Ahnen, D.J.5    Young, G.P.6    Buchanan, D.D.7    Clendenning, M.8    Giles, G.G.9    Winship, I.10
  • 25
    • 0035162347 scopus 로고    scopus 로고
    • Hereditary nonpolyposis colorectal cancer in 95 families: differences and similarities between mutation-positive and mutation-negative kindreds
    • 10.1086/316942, 1234904, 11112663
    • Scott RJ, McPhillips M, Meldrum CJ, Fitzgerald PE, Adams K, Spigelman AD, du Sart D, Tucker K, Kirk J. Hereditary nonpolyposis colorectal cancer in 95 families: differences and similarities between mutation-positive and mutation-negative kindreds. Am J Hum Genet 2001, 68(1):118-127. 10.1086/316942, 1234904, 11112663.
    • (2001) Am J Hum Genet , vol.68 , Issue.1 , pp. 118-127
    • Scott, R.J.1    McPhillips, M.2    Meldrum, C.J.3    Fitzgerald, P.E.4    Adams, K.5    Spigelman, A.D.6    du Sart, D.7    Tucker, K.8    Kirk, J.9
  • 26
    • 52049086689 scopus 로고    scopus 로고
    • Clinical and pathologic characteristics of patients with BRCA-positive and BRCA-negative breast cancer
    • 10.1200/JCO.2008.16.6231, 18779615
    • Atchley DP, Albarracin CT, Lopez A, Valero V, Amos CI, Gonzalez-Angulo AM, Hortobagyi GN, Arun BK. Clinical and pathologic characteristics of patients with BRCA-positive and BRCA-negative breast cancer. J Clin Oncol 2008, 26(26):4282-4288. 10.1200/JCO.2008.16.6231, 18779615.
    • (2008) J Clin Oncol , vol.26 , Issue.26 , pp. 4282-4288
    • Atchley, D.P.1    Albarracin, C.T.2    Lopez, A.3    Valero, V.4    Amos, C.I.5    Gonzalez-Angulo, A.M.6    Hortobagyi, G.N.7    Arun, B.K.8
  • 27
    • 0037130887 scopus 로고    scopus 로고
    • Cancer Incidence in BRCA1 mutation carriers
    • 10.1093/jnci/94.18.1358, 12237281
    • Thompson D, Easton DF. Cancer Incidence in BRCA1 mutation carriers. J Natl Cancer Inst 2002, 94(18):1358-1365. 10.1093/jnci/94.18.1358, 12237281.
    • (2002) J Natl Cancer Inst , vol.94 , Issue.18 , pp. 1358-1365
    • Thompson, D.1    Easton, D.F.2
  • 29
    • 25844460525 scopus 로고    scopus 로고
    • BRCA1 interaction with human papillomavirus oncoproteins
    • 10.1074/jbc.M505124200, 15983032
    • Zhang Y, Fan S, Meng Q, Ma Y, Katiyar P, Schlegel R, Rosen EM. BRCA1 interaction with human papillomavirus oncoproteins. J Biol Chem 2005, 280(39):33165-33177. 10.1074/jbc.M505124200, 15983032.
    • (2005) J Biol Chem , vol.280 , Issue.39 , pp. 33165-33177
    • Zhang, Y.1    Fan, S.2    Meng, Q.3    Ma, Y.4    Katiyar, P.5    Schlegel, R.6    Rosen, E.M.7
  • 30
    • 68349155807 scopus 로고    scopus 로고
    • Ovarian carcinoma pathology and genetics: recent advances
    • 10.1016/j.humpath.2009.04.017, 19552940
    • Gilks CB, Prat J. Ovarian carcinoma pathology and genetics: recent advances. Hum Pathol 2009, 40(9):1213-1223. 10.1016/j.humpath.2009.04.017, 19552940.
    • (2009) Hum Pathol , vol.40 , Issue.9 , pp. 1213-1223
    • Gilks, C.B.1    Prat, J.2
  • 31
    • 0032730774 scopus 로고    scopus 로고
    • Genetic susceptibility to non-polyposis colorectal cancer
    • 1734258, 10544223
    • Lynch HT, de la Chapelle A. Genetic susceptibility to non-polyposis colorectal cancer. J Med Genet 1999, 36(11):801-818. 1734258, 10544223.
    • (1999) J Med Genet , vol.36 , Issue.11 , pp. 801-818
    • Lynch, H.T.1    de la Chapelle, A.2
  • 32
    • 0029955159 scopus 로고    scopus 로고
    • The genetic attributable risk of breast and ovarian cancer
    • 10.1002/(SICI)1097-0142(19960601)77:11<2318::AID-CNCR21>3.0.CO;2-Z, 8635102
    • Claus EB, Schildkraut JM, Thompson WD, Risch NJ. The genetic attributable risk of breast and ovarian cancer. Cancer 1996, 77(11):2318-2324. 10.1002/(SICI)1097-0142(19960601)77:11<2318::AID-CNCR21>3.0.CO;2-Z, 8635102.
    • (1996) Cancer , vol.77 , Issue.11 , pp. 2318-2324
    • Claus, E.B.1    Schildkraut, J.M.2    Thompson, W.D.3    Risch, N.J.4
  • 33
    • 4544374528 scopus 로고    scopus 로고
    • BRCA1 and BRCA2: 1994 and beyond
    • 10.1038/nrc1431, 15343273
    • Narod SA, Foulkes WD. BRCA1 and BRCA2: 1994 and beyond. Nat Rev Cancer 2004, 4(9):665-676. 10.1038/nrc1431, 15343273.
    • (2004) Nat Rev Cancer , vol.4 , Issue.9 , pp. 665-676
    • Narod, S.A.1    Foulkes, W.D.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.