Bibliografia
Burke W, Daly M, Garber J, Botkin et al. Recommendations for follow- up care of individuals with an inherited predisposition to cancer. II.
BRCA1 and BRCA2. Cancer Genetics Studies Consortium. JAMA.
1997, Mar 26;277(12):997-1003. Review.
Capocaccia R. et al. 1990 Capocaccia R. et al. Cancer Causes and Control 1990, 1: 23-29.
Chenevix-Trench G, Spurdle AB, et al. (2002). Dominant negative ATM mutations in breast cancer families.
Journal of the National Can-cer Institute 6, 205-215.
Centers for Disease Control and Prevention. MMWR Morb. Mortal.
Wkly Rep. 1992, 41: 454-459.
Gellert M (2002). V(D)J recombination: RAG proteins, repair factors, and regula-tion. Annual Review of Biochemistry 71, 101-132.
Gorski B, Debniak T, Masojcet B, et al (2003).
Germeline 657del5 mutation in the NBS1 gene in breast cancer patients.
J. Cancer 106,379-381.
Heikkinen K, Rapakko K, Karppinen S-M, et al RAD50 and NBS1 are breast cancer susceptibility genes associated with genomic instability.
Carcinogenesis 27(8):1593-1599, 2006
Hiromichi Ebi, Keitaro Matsuo, Nobuyoshi Sugito,et al Novel NBS1 heterzigosus germ line mutation causing line mutation causing MRE11- binding domain loss predisposes to common types of cancer .Cancer Res 2007
Hsu H-M, Wang H-C, Chen S-T. Breast Cancer Risk Is Associated with the Genes Encoding the DNA Double-Strand Break
RepairMre11/Rad50/Nbs1 Complex. Cancer Epidemiology Biomarkers
& Prevention 16:2024-2032, 2007
Jacobs I, Skates SJ, MacDonald N, et al: Screening for ovarian cancer: A pilot randomized control trial. Lancet 1999, 353:1207-1210.
Jan Stefen, Raymonda Varon, Maria Mosor,et al,(2004) Increased cancer risk of heterozygoteswith NBS1 germeline mutations in Poland. Int. J.
Cancer: 111,67-71
Jan Steffen, Galina Maneva, Lidia Poplawska, et al,(2006). Increased risk of gastrointestinal lymphoma in carriers of the 657del5 NBS1 gene mutation. Int.J.Cancer:119,2970-2973 (2006).
Jenne DE, Reimann H, Nezu J, et al syndrome is caused by mutations in a novel serine threonine kinase. Naure Genetics 18, 38-43.
Jerzy Nowak, Maria Mosor, Iwona Ziòlkowska et al, (2008) Heterozygosus carriers of the I171V mutation of the NBS1 gene have a significantly increased riskof solidal malignant tumours. Europian Jurnal of cancer 44 (2008) 627-630.
Khanna KK, Jackson SP (2001). DNA double-strand breaks: signaling, repair and the cancer connection. Nature Genetics 27, 247-254.
Kinzler KW, Vogelstein B (1997). Gatekeepers and caretakers. Nature 386, 761-
Liberman L, Morris EA, Bentol CL, et al: Probably benign lesions at breast magnetic resonance imaging: Preliminary experience in high-risk women. Cancer 2003, 98:377-388.
Li FP, Fraumeni JF Jr, Mulvihill JJ, Blattner WA,et al (1998). A cancer family syndrome in twenty-four kindreds. Cancer Research 48, 5358- 5362.
Lu j, Wei Q, Bondy M.L, Li D, et al. Polymorphisms andhaplotypes of the NBS1 gene are associated with risk of sporadic breast cancer in non- Hispanic white women < or = 55 years. Carcinogenesis 27(11):2209- 2216,
Micheli, A. et al. Tumori 1992, 78: 13-21
Miki Y, Swensen J, Shattuck-Eidens D, Futreal PA, et al: MRI of occult breast carcinoma in a high-risk population. AJR Am J Roentgenol 2003, 181:619-626.
NIH Consensus Statement “Breast Cancer Screening for Women Ages 40-49”, Bethesda, January 21-23, 1997, Vol 15(1).
Qing Zhong, Chi-Fen Chen, Shang Li, et al (1999)*Association of BRCA1 with the hRad50-hMre11-p95 Complex and the DNA Damage Response
Science Vol. 285. no. 5428, pp. 747 - 750.
Ries LA,Eisner MP, Kosary CL, et al.: SEER Cancer Statistics Review, 1973-1999. Bethesda, National Cancer Institute, 2002
Robson ME, Offit K: Breast MRI for women with hereditary cancer risk.
JAMA 2004, 292:1368-1370.
Roznowski K, Januszkiewicz-lewandowska D, Mosor M,et al. I171V germline mutation in the NBS1 gene significantly increases risk of breast cancer. Breast Cancer Res treat, 2007 Sep 26;
Scheuer L, Kauff ND, Robson M, et al: Outcome of preventive surgery and screening for breast and ovarian cancer in BRCA mutation carriers. J Clin Oncol 2002, 20:1260-1268.
Schottenfeld D, Fraumeni JF (1996). Cancer epidemiology and prevention, 2nd edition. Ox-ford, Oxford University Press, 1023.
Skolnick MH. A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1. Science 1994, 266:66-71.
Steck PA, Pershouse MA, Jasser SA, et al (1997). Identification of a candidate tumor suppressor gene, MMAC1, at chromosome 10q23.3 that is mutated in multiple advanced cancers. Nature Genetics 15, 356-362.
The Breast Cancer Linkage Consortium, 1999
Van Gent DC, Hoeijmakers JHJ, Kanaar R (2001). Chromosomal stability and the DNA double-stranded break connection. Nature Reviews Genetics 2, 196-206.
Wooster R, Bignell G, Lancaster J, Swift S, Seal S, Mangion J, Collins N, Gregory S, Gumbs C, Micklem G (1995). Identification of the breast cancer susceptibility gene BRCA2. Nature 378, 789-792.
www.fichtv.org
www.ncbi.nlm.nih.go/BLAST
www.nhgri.nih.gov/Intramural_research/Lab_transfer/Bic www.primer3_www.cgi
www.technelysium.com.au/chromas_lite.html
