RICERCA ITALIANA     

Programmi di ricerca simili:

• 1 - Basi metaboliche e molecolari della sindrome di Down
• 2 - Genetica, biologia e clinica dei paragangliomi: le mutazioni della succinodeidrogenasi mitocondriale come modello di studio della trasmissione, crescita, variabilità e trattamento dei tumori di derivazione dalla cresta neurale
• 3 - Alterazioni dell'imprinting genomico in patologie umane
• 4 - Geni dell'angiogenesi indotti da ipossia: fattori di suscettibilità nella Sclerosi Laterale Amiotrofica ?
• 5 - Meccanismi di leucemogenesi e terapia target nelle sindromi Mielodisplastiche e nelle Leucemie Acute Mieloidi
• 6 - Variabilità e funzione delle mutazioni mitocondriali in condizioni fisiologiche e patologiche
• 7 - Meccanismi molecolari di carcinogenesi: validazione di nuovi bersagli per la diagnosi e la terapia
• 8 - Sindromi Mielodisplastiche: modelli patogenetici e nuove possibilità terapeutiche
• 9 - Nuove protein chinasi (haspin-like) coinvolte nel controllo del ciclo cellulare e nella risposta a danni al DNA
• 10 - Meccanismi di controllo dell’eritropoiesi e policitemie congenite e familiari: ruolo delle vie di risposta alla pressione di ossigeno

Classificazione scientifico-disciplinare

• Area scientifico disciplinare: Scienze mediche
  • GENETICA MEDICA
  • ANATOMIA PATOLOGICA
  • GASTROENTEROLOGIA
  • CHIRURGIA GENERALE

Classificazione brevettuale

• CHEMISTRY; METALLURGY
  • BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • MEASURING OR TESTING PROCESSES INVOLVING ENZYMES OR MICRO-ORGANISMS (immunoassay G01N33/53); COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • MICRO-ORGANISMS OR ENZYMES; COMPOSITIONS THEREOF (biocides, pest repellants or attractants, or plant growth regulators, containing micro-organisms, viruses, microbial fungi, enzymes, fermentates or substances produced by or extracted from micro-organisms or animal material A01N63/00; food compositions A21, A23; medicinal preparations A61K; chemical aspects of, or use of materials for, bandages, dressings, absorbent pads or surgical articles A61L; fertilisers C05); PROPAGATING, PRESERVING OR MAINTAINING MICRO-ORGANISMS (preservation of living parts of humans or animals A01N1/02); MUTATION OR GENETIC ENGINEERING; CULTURE MEDIA (micro-biological testing media C12Q)

Classificazione geografica

• Regione: Sardegna

Bibliografia

D’Andrea, A.D. and Grompe, M. 2003. The Fanconi anaemia/BRCA pathway. Nat. Rev. Cancer 3: 23–34.

Garcia-Higuera, I., Kuang, Y., Naf, D., Wasik, J., and D’Andrea, A.D. 1999. Fanconi anemia proteins FANCA, FANCC, and FANCG/XRCC9 interact in a functional nuclear complex. Mol. Cell. Biol. 19: 4866–4873.

Medhurst, A.L., Huber, P.A., Waisfisz, Q., de Winter, J.P., and Mathew, C.G. 2001. Direct interactions of the five known Fanconi anaemia proteins suggest a common functional pathway. Hum. Mol. Genet. 10: 423–429.

Garcia-Higuera, I., Taniguchi, T., Ganesan, S., Meyn, M.S., Timmers, C., Hejna, J., Grompe, M., and D’Andrea, A.D. 2001. Interaction of the Fanconi anemia proteins and BRCA1 in a common pathway. Mol. Cell 7: 249–262.

Taniguchi, T., Tischkowitz, M., Ameziane, N., Hodgson, S.V., Mathew, C.G., Joenje, H., Mok, S.C., and D’Andrea, A.D. 2003. Disruption of the Fanconi anemia-BRCA pathway in cisplatin-sensitive ovarian tumors. Nat. Med. 9: 568–574.

Seal S, Barfoot R, Jayatilake H, Smith P, Renwick A, Bascombe L, McGuffog L, Evans DG, Eccles D, Easton DF, Stratton MR, Rahman N; Breast Cancer Susceptibility Collaboration. Evaluation of Fanconi Anemia genes in familial breast cancer predisposition. Cancer Res. 2003; 63: 8596-9.

Aitken J, Welch J, Duffy D, Milligan A, Green A, Martin N, Hayward N. CDKN2A variants in a population-based sample of Queensland families with melanoma. J Natl Cancer Inst. 1999 Mar 3;91(5):446-52.

Auroy S, Avril MF, Chompret A, Pham D, Goldstein AM, Bianchi-Scarra G, Frebourg T, Joly P, Spatz A, Rubino C, Demenais F, Bressac-de Paillerets B; French Hereditary Melanoma Study Group. Sporadic multiple primary melanoma cases: CDKN2A germline mutations with a founder effect. Genes Chromosomes Cancer. 2001 Nov;32(3):195-202.

Bardeesy N, DePinho RA. Pancreatic cancer: biology and genetics Nat Rev Cancer. 2002 Dec;2(12):897-909

Borg A, Sandberg T, Nilsson K, et al. High frequency of multiple melanomas and breast and pancreas carcinomas in CDKN2A mutation-positive melanoma families. J Natl Cancer Inst 2000; 92: 1260-1266.

Cancer risks in BRCA2 mutation carriers.The Breast Cancer Linkage Consortium. J Natl Cancer Inst. 1999 Aug 4;91(15):1310-6.

Caldas C, Hahn SA, da Costa LT, et al. Frequent somatic mutations and homozygous deletions of the p16 (MTS1) gene in pancreatic adenocarcinoma. Nat Genet 1994; 8: 27-32.

Ciotti P, Strigini P, Bianchi-Scarra G. Familial melanoma and pancreatic cancer. Ligurian Skin Tumor Study Group. N Engl J Med 1996; 334: 469-470.

Ciotti P, Struewing JP, Mantelli M, et al. A single genetic origin for the G101W CDKN2A mutation in 20 melanoma-prone families. Am J Hum Genet 2000; 67: 311-319.

Gayther SA, Mangion J, Russell P, et al. Variation of risks of breast and ovarian cancer associated with different germline mutations of the BRCA2 gene. Nat Genet 1997; 15: 103-105.

Ghiorzo P, Ciotti P, Mantelli M, et al. Characterization of ligurian melanoma families and risk of occurrence of other neoplasia. Int J Cancer 1999; 83: 441-448.

Ghiorzo P, Pastorino L, Bonelli L, Cusano R, Nicora A, Zupo S, Queirolo P, Sertoli M, Pugliese V, Bianchi-Scarra G. INK4/ARF germline alterations in pancreatic cancer patients. Ann Oncol. 2004 Jan;15(1):70-8.

Ghiorzo P, Villaggio B, Sementa AR, Hansson J, Platz A, Nicolo G, Spina B, Canepa M, Palmer JM, Hayward NK, Bianchi-Scarra G. Expression and localization of mutant p16 proteins in melanocytic lesions from familial melanoma patients. Hum Pathol. 2004 Jan;35(1):25-33.

Goggins M, Schutte M, Lu J, Moskaluk CA, Weinstein CL, Petersen GM, et al. Germline BRCA2 gene mutations in patients with apparently sporadic pancreatic carcinomas. Cancer Res 1996;56:5360-4

Goldstein AM, Fraser MC, Struewing JP, et al. Increased risk of pancreatic cancer in melanoma-prone kindreds with p16INK4 mutations. N Engl J Med 1995; 333: 970-974.

Goldstein AM, Struewing JP, Chidambaram A, et al. Genotype-phenotype relationships in U.S. melanoma-prone families with CDKN2A and CDK4 mutations. J Natl Cancer Inst 2000; 92: 1006-1010.

Harland M, Mistry S, Bishop DT, Bishop JA. A deep intronic mutation in CDKN2A is associated with disease in a subset of melanoma pedigrees. Hum Mol Genet. 2001 Nov 1;10(23):2679-86.

Hemminki A, Markie D, Thomlinson I, Avizienyte E, Roth S, Loukola A, Bignell G, Warren W, Aminoff M, Hoglund P, Jarvinen H, Kristo P, Pelin K, Ridanpaa M, Salovaara R, Toro T, Bodmer W, Olschwang S, Olsen A, Stratton M, Chapelle Adl, Aaltonen L: A serine/threonine kinase gene defective in Peutz–Jeghers syndrome.
Nature 1998, 391:184-187.

Howlett NG, Taniguchi T, Olson S, Cox B, Waisfisz Q, De Die-Smulders C, Persky N, Grompe M, Joenje H, Pals G, Ikeda H, Fox EA, D'Andrea AD. Biallelic inactivation of BRCA2 in Fanconi anemia. Science. 2002 Jul 26;297(5581):606-9. Epub 2002 Jun 13.

Hruban RH, Petersen GM, Ha PK, Kern SE. Genetics of pancreatic cancer. From genes to families. Surg Oncol Clin N Am 1998; 7: 1-23

Liede A, Karlan BY, Narod SA. Cancer risks for male carriers of germline mutations in BRCA1 or BRCA2: a review of the literature. J Clin Oncol. 2004 Feb 15;22(4):735-42.

Lim W, Hearle N, Shah B, Murday V, Hodgson SV, Lucassen A, Eccles D, Talbot I, Neale K, Lim AG, O'Donohue J, Donaldson A, Macdonald RC, Young ID, Robinson MH, Lee PW, Stoodley BJ, Tomlinson I, Alderson D, Holbrook AG, Vyas S, Swarbrick ET, Lewis AA, Phillips RK, Houlston RS. Further observations on LKB1/STK11 status and cancer risk in Peutz-Jeghers syndrome. Br J Cancer. 2003 Jul 21;89(2):308-13.

Mantelli M, Barile M, Ciotti P, Ghiorzo P, Lantieri F, Pastorino L, et al High prevalence of the G101W germline mutation in the CDKN2A (P16(ink4a)) gene in 62 Italian malignant melanoma families. Am J Med Genet 107:214-221, 2002

de vos tot Nederveen Cappel WH, Offerhaus GJ, van Puijenbroek M, Caspers E, Gruis NA, De Snoo FA, Lamers CB, Griffioen G, Bergman W, Vasen HF, Morreau H. Pancreatic carcinoma in carriers of a specific 19 base pair deletion of CDKN2A/p16 (p16-leiden). Clin Cancer Res. 2003 Sep 1;9(10 Pt 1):3598-605.

Petronzelli F, Sollima D, Coppola G, Martini-Neri ME, Neri G, Genuardi M. CDKN2A germline splicing mutation affecting both p16(ink4) and p14(arf) RNA processing in a melanoma/neurofibroma kindred. Genes Chromosomes Cancer. 2001 Aug;31(4):398-401.

Phelan CM, Lancaster JM, Tonin P, Gumbs C, Cochran C, Carter R, et al. Mutation analysis of the BRCA2 gene in 49 site-specific breast cancer families. Nat Genet 1996;13:120-2

Rizos H, Darmanian AP, Holland EA, Mann GJ, Kefford RF. Mutations in the INK4a/ARF melanoma susceptibility locus functionally impair p14ARF. J Biol Chem. 2001 Nov 2;276(44):41424-34. Epub 2001 Aug 22.

Schutte M, da Costa LT, Hahn SA, Moskaluk C, Hoque AT, Rozenblum E, et al. Identification by representational difference analysis of a homozygous deletion in pancreatic carcinoma that lies within the BRCA2 region. Proc Natl Acad Sci U S A 1995;92:5950-4

Schutte M, Hruban RH, Geradts J, et al. Abrogation of the Rb/p16 tumor-suppressive pathway in virtually all pancreatic carcinomas. Cancer Res 1997; 57: 3126-3130.

Srivastava A, McKinnon W, Wood ME. Risk of breast and ovarian cancer in women with strong family histories. Oncology (Huntingt). 2001 Jul;15(7):889-902; discussion 902, 905-7, 911-13.

Thull DL, Vogel VG. Recognition and management of hereditary breast cancer syndromes. Oncologist. 2004;9(1):13-24.

Vasen HF, Gruis NA, Frants RR, et al. Risk of developing pancreatic cancer in families with familial atypical multiple mole melanoma associated with a specific 19 deletion of p16 (p16-Leiden). Int J Cancer 2000; 87: 809-811.

Walker GJ, Gabrielli BG, Castellano M, Hayward NK. Functional reassessment of P16 variants using a transfection-based assay. Int J Cancer. 1999 Jul 19;82(2):305-12.

Parole Chiave

FANCONI; TUMORI; GENI; CDKN2A