Heterozygous germline mutations in NBS1 among Korean patients with high-risk breast cancer negative for BRCA1/2 mutation

Springer Science and Business Media LLC - Tập 14 Số 3 - Trang 365-371 - 2015
Haeyoung Kim1, Dae Yeon Cho2, Doo Ho Choi3, Gee Hue Jung2, Insik Shin2, Won Park3, Seung Jae Huh3, Sung Won Kim4, Sung Sup Park5, Jong Won Lee6, Seok Jin Nam7, Jeong Eon Lee7, Won Ho Gil7, Seok Won Kim7
1Hallym University Dongtan Sacred Heart Hospital;
2LabGenomics Clinical Research Institute, LabGenomics, Seongnam, South Korea
3Department of Radiation Oncology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, South Korea
4Department of Surgery, Seoul National University Bundang Hospital, Seoul National University College of Medicine, Seongnam, South Korea
5Department of Biomedical Science, Seoul National University College of Medicine, Seoul National University, Seoul, South Korea
6Department of Surgery, Asan Medical Center, University of Ulsan College of Medicine, Ulsan, South Korea
7Department of Surgery, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, South Korea

Tóm tắt

Từ khóa


Tài liệu tham khảo

Thompson D, Easton D (2004) The genetic epidemiology of breast cancer genes. J Mammary Gland Biol Neoplasia 9(3):221–236

Ripperger T, Gadzicki D, Meindl A, Schlegelberger B (2009) Breast cancer susceptibility: current knowledge and implications for genetic counselling. Eur J Hum Genet 17(6):722–731

Chen S, Parmigiani G (2007) Meta-analysis of BRCA1 and BRCA2 penetrance. J Clin Oncol 25(11):1329–1333

Wooster R, Weber BL (2003) Breast and ovarian cancer. N Engl J Med 348(23):2339–2347

Kurian AW (2010) BRCA1 and BRCA2 mutations across race and ethnicity: distribution and clinical implications. Curr Opin Obstet Gynecol 22(1):72–78

Kim H, Choi DH (2013) Distribution of and mutations in Asian patients with breast cancer. J Breast Cancer 16(4):357–365

Zhang B, Beeghly-Fadiel A, Long J, Zheng W (2011) Genetic variants associated with breast-cancer risk: comprehensive research synopsis, meta-analysis, and epidemiological evidence. Lancet Oncol 12(5):477–488

Hollestelle A, Wasielewski M, Martens JW, Schutte M (2010) Discovering moderate-risk breast cancer susceptibility genes. Curr Opin Genet Dev 20(3):268–276

Varon R, Vissinga C, Platzer M, Cerosaletti KM, Chrzanowska KH, Saar K, Beckmann G, Seemanova E, Cooper PR, Nowak NJ, Stumm M, Weemaes CM, Gatti RA, Wilson RK, Digweed M, Rosenthal A, Sperling K, Concannon P, Reis A (1998) Nibrin, a novel DNA double-strand break repair protein, is mutated in Nijmegen breakage syndrome. Cell 93(3):467–476

Carney JP, Maser RS, Olivares H, Davis EM, Le Beau M, Yates JR 3rd, Hays L, Morgan WF, Petrini JH (1998) The hMre11/hRad50 protein complex and Nijmegen breakage syndrome: linkage of double-strand break repair to the cellular DNA damage response. Cell 93(3):477–486

Weemaes CM, Hustinx TW, Scheres JM, van Munster PJ, Bakkeren JA, Taalman RD (1981) A new chromosomal instability disorder: the Nijmegen breakage syndrome. Acta Paediatr Scand 70(4):557–564

Group TINBSS (2000) Nijmegen breakage syndrome. The international Nijmegen breakage syndrome study group. Arch Dis Child 82(5):400–406

di Masi A, Antoccia A (2008) NBS1 heterozygosity and cancer risk. Curr Genomics 9(4):275–281

Steffen J, Nowakowska D, Niwinska A, Czapczak D, Kluska A, Piatkowska M, Wisniewska A, Paszko Z (2006) Germline mutations 657del5 of the NBS1 gene contribute significantly to the incidence of breast cancer in Central Poland. Int J Cancer 119(2):472–475

Kanka C, Brozek I, Skalska B, Siemiatkowska A, Limon J (2007) Germline NBS1 mutations in families with aggregation of Breast and/or ovarian cancer from north-east Poland. Anticancer Res 27(4C):3015–3018

Nowak J, Mosor M, Ziolkowska I, Wierzbicka M, Pernak-Schwarz M, Przyborska M, Roznowski K, Plawski A, Slomski R, Januszkiewicz D (2008) Heterozygous carriers of the I171V mutation of the NBS1 gene have a significantly increased risk of solid malignant tumours. Eur J Cancer 44(4):627–630

Desjardins S, Beauparlant JC, Labrie Y, Ouellette G, Durocher F, BRCAs I (2009) Variations in the NBN/NBS1 gene and the risk of breast cancer in non-BRCA1/2 French Canadian families with high risk of breast cancer. BMC Cancer 9:181

He M, Di GH, Cao AY, Hu Z, Jin W, Shen ZZ, Shao ZM (2012) RAD50 and NBS1 are not likely to be susceptibility genes in Chinese non-BRCA1/2 hereditary breast cancer. Breast Cancer Res Treat 133(1):111–116

Wang X, Szabo C, Qian C, Amadio PG, Thibodeau SN, Cerhan JR, Petersen GM, Liu W, Couch FJ (2008) Mutational analysis of thirty-two double-strand DNA break repair genes in breast and pancreatic cancers. Cancer Res 68(4):971–975

Cao AY, Hu Z, Yin WJ, Jin W, Shao ZM (2010) Some common mutations of RAD50 and NBS1 in western populations do not contribute significantly to Chinese non-BRCA1/2 hereditary breast cancer. Breast Cancer Res Treat 121(1):247–249

Han SA, Park SK, Ahn SH, Lee MH, Noh DY, Kim LS, Noh WC, Jung Y, Kim KS, Kim SW, Korean Breast Cancer Study G (2011) The Korean hereditary breast cancer (KOHBRA) study: protocols and interim report. Clin Oncol (R Coll Radiol) 23(7):434–441

Ahn SH, Son BH, Yoon KS, Noh DY, Han W, Kim SW, Lee ES, Park HL, Hong YJ, Choi JJ, Moon SY, Kim MJ, Kim KH, Kwak BS, Cho DY (2007) BRCA1 and BRCA2 germline mutations in Korean breast cancer patients at high risk of carrying mutations. Cancer Lett 245(1–2):90–95

Kim H, Cho DY, Choi DH, Choi SY, Shin I, Park W, Huh SJ, Han SH, Lee MH, Ahn SH, Son BH, Kim SW, Korean Breast Cancer Study G, Haffty BG (2012) Characteristics and spectrum of BRCA1 and BRCA2 mutations in 3922 Korean patients with breast and ovarian cancer. Breast Cancer Res Treat 134(3):1315–1326

den Dunnen JT, Antonarakis SE (2000) Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion. Hum Mutat 15(1):7–12

Adzhubei IA, Schmidt S, Peshkin L, Ramensky VE, Gerasimova A, Bork P, Kondrashov AS, Sunyaev SR (2010) A method and server for predicting damaging missense mutations. Nat Methods 7(4):248–249

Kumar P, Henikoff S, Ng PC (2009) Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. Nat Protoc 4(7):1073–1081

Han SA, Kim SW, Kang E, Park SK, Ahn SH, Lee MH, Nam SJ, Han W, Bae YT, Kim HA, Cho YU, Chang MC, Paik NS, Hwang KT, Kim SJ, Noh DY, Choi DH, Noh WC, Kim LS, Kim KS, Suh YJ, Lee JE, Jung Y, Moon BI, Yang JH, Son BH, Yom CK, Kim SY, Lee H, Jung SH, Group KR, The Korean Breast Cancer S (2013) The prevalence of BRCA mutations among familial breast cancer patients in Korea: results of the Korean hereditary breast cancer study. Fam Cancer 12(1):75–81

Son BH, Ahn SH, Kim SW, Kang E, Park SK, Lee MH, Noh WC, Kim LS, Jung Y, Kim KS, Noh DY, Moon BI, Suh YJ, Lee JE, Choi DH, Kim SY, Jung SH, Yom CK, Lee H, Yang JH, Group KR, Korean Breast Cancer S (2012) Prevalence of BRCA1 and BRCA2 mutations in non-familial breast cancer patients with high risks in Korea: the Korean hereditary breast cancer (KOHBRA) study. Breast Cancer Res Treat 133(3):1143–1152

Haffty BG, Choi DH, Goyal S, Silber A, Ranieri K, Matloff E, Lee MH, Nissenblatt M, Toppmeyer D, Moran MS (2009) Breast cancer in young women (YBC): prevalence of BRCA1/2 mutations and risk of secondary malignancies across diverse racial groups. Ann Oncol 20(10):1653–1659

Choi DH, Cho DY, Lee MH, Park HS, Ahn SH, Son BH, Haffty BG (2008) The CHEK2 1100delC mutation is not present in Korean patients with breast cancer cases tested for BRCA1 and BRCA2 mutation. Breast Cancer Res Treat 112(3):569–573

Kim JH, Choi DH, Cho DY, Ahn SH, Son BH, Haffty BG (2010) PALB2 mutations 1592delT and 229delT are not present in Korean breast cancer patients negative for BRCA1 and BRCA2 mutations. Breast Cancer Res Treat 122(1):303–306

Ebi H, Matsuo K, Sugito N, Suzuki M, Osada H, Tajima K, Ueda R, Takahashi T (2007) Novel NBS1 heterozygous germ line mutation causing MRE11-binding domain loss predisposes to common types of cancer. Cancer Res 67(23):11158–11165

Kobayashi J, Tauchi H, Sakamoto S, Nakamura A, Morishima K, Matsuura S, Kobayashi T, Tamai K, Tanimoto K, Komatsu K (2002) NBS1 localizes to gamma-H2AX foci through interaction with the FHA/BRCT domain. Curr Biol 12(21):1846–1851

Shimada H, Shimizu K, Mimaki S, Sakiyama T, Mori T, Shimasaki N, Yokota J, Nakachi K, Ohta T, Ohki M (2004) First case of aplastic anemia in a Japanese child with a homozygous missense mutation in the NBS1 gene (I171V) associated with genomic instability. Hum Genet 115(5):372–376

Varon R, Reis A, Henze G, von Einsiedel HG, Sperling K, Seeger K (2001) Mutations in the Nijmegen breakage syndrome gene (NBS1) in childhood acute lymphoblastic leukemia (ALL). Cancer Res 61(9):3570–3572

Ziolkowska I, Mosor M, Wierzbicka M, Rydzanicz M, Pernak-Schwarz M, Nowak J (2007) Increased risk of larynx cancer in heterozygous carriers of the I171V mutation of the NBS1 gene. Cancer Sci 98(11):1701–1705

Roznowski K, Januszkiewicz-Lewandowska D, Mosor M, Pernak M, Litwiniuk M, Nowak J (2008) I171V germline mutation in the NBS1 gene significantly increases risk of breast cancer. Breast Cancer Res Treat 110(2):343–348

Bogdanova N, Schurmann P, Waltes R, Feshchenko S, Zalutsky IV, Bremer M, Dork T (2008) NBS1 variant I171V and breast cancer risk. Breast Cancer Res Treat 112(1):75–79

Gorski B, Debniak T, Masojc B, Mierzejewski M, Medrek K, Cybulski C, Jakubowska A, Kurzawski G, Chosia M, Scott R, Lubinski J (2003) Germline 657del5 mutation in the NBS1 gene in breast cancer patients. Int J Cancer 106(3):379–381

Buslov KG, Iyevleva AG, Chekmariova EV, Suspitsin EN, Togo AV, Kuligina E, Sokolenko AP, Matsko DE, Turkevich EA, Lazareva YR, Chagunava OL, Bit-Sava EM, Semiglazov VF, Devilee P, Cornelisse C, Hanson KP, Imyanitov EN (2005) NBS1 657del5 mutation may contribute only to a limited fraction of breast cancer cases in Russia. Int J Cancer 114(4):585–589

Gorski B, Cybulski C, Huzarski T, Byrski T, Gronwald J, Jakubowska A, Stawicka M, Gozdecka-Grodecka S, Szwiec M, Urbanski K, Mitus J, Marczyk E, Dziuba J, Wandzel P, Surdyka D, Haus O, Janiszewska H, Debniak T, Toloczko-Grabarek A, Medrek K, Masojc B, Mierzejewski M, Kowalska E, Narod SA, Lubinski J (2005) Breast cancer predisposing alleles in Poland. Breast Cancer Res Treat 92(1):19–24

Castera L, Krieger S, Rousselin A, Legros A, Baumann JJ, Bruet O, Brault B, Fouillet R, Goardon N, Letac O, Baert-Desurmont S, Tinat J, Bera O, Dugast C, Berthet P, Polycarpe F, Layet V, Hardouin A, Frebourg T, Vaur D (2014) Next-generation sequencing for the diagnosis of hereditary breast and ovarian cancer using genomic capture targeting multiple candidate genes. Eur J Hum Genet 22(11):1305–1313

Kurian AW, Hare EE, Mills MA, Kingham KE, McPherson L, Whittemore AS, McGuire V, Ladabaum U, Kobayashi Y, Lincoln SE, Cargill M, Ford JM (2014) Clinical evaluation of a multiple-gene sequencing panel for hereditary cancer risk assessment. J Clin Oncol 32(19):2001–2009

Dzikiewicz-Krawczyk A, Mosor M, Januszkiewicz D, Nowak J (2012) Impact of heterozygous c.657-661del, p. I171V and p.R215W mutations in NBN on nibrin functions. Mutagenesis 27(3):337–343

Steffen J, Varon R, Mosor M, Maneva G, Maurer M, Stumm M, Nowakowska D, Rubach M, Kosakowska E, Ruka W, Nowecki Z, Rutkowski P, Demkow T, Sadowska M, Bidzinski M, Gawrychowski K, Sperling K (2004) Increased cancer risk of heterozygotes with NBS1 germline mutations in Poland. Int J Cancer 111(1):67–71

Bartkova J, Tommiska J, Oplustilova L, Aaltonen K, Tamminen A, Heikkinen T, Mistrik M, Aittomaki K, Blomqvist C, Heikkila P, Lukas J, Nevanlinna H, Bartek J (2008) Aberrations of the MRE11-RAD50-NBS1 DNA damage sensor complex in human breast cancer: MRE11 as a candidate familial cancer-predisposing gene. Mol Oncol 2(4):296–316