A new germline mutation in BRCA1 gene in a sicilian family with ovarian cancer

Breast Cancer Research and Treatment

Volumn 96, Issue 1, 2006, Pages 97-100

  Calò, Valentina ^a   Agnese, Valentina ^a   Gargano, Grazia ^a   Corsale, Simona ^a   Gregorio, Valter ^a   Cascio, Sandra ^a   Cammareri, Patrizia ^a   Bruno, Loredana ^a   Augello, Claudia ^a   Gullo, Arianna ^a   Sisto, Pasqua Sandra ^a   Badalamenti, Giuseppe ^a   Valerio, Maria Rosaria ^a   Napoli, Liborio ^a   Gebbia, Nicola ^a   Bazan, Viviana ^a   Russo, Antonio ^a  

^a UNIVERSITY OF PALERMO   (Italy)

Author keywords

BRCA1; Direct automatic sequencing; Germline mutation; Ovarian cancer

Indexed keywords

BRCA1 PROTEIN; DNA;

ADULT; ARTICLE; BREAST CANCER; CASE REPORT; DNA EXTRACTION; DNA SEQUENCE; EXON; FAMILY STUDY; FEMALE; FRAMESHIFT MUTATION; GENE DELETION; GENE MUTATION; GENETIC COUNSELING; GERM LINE; HISTOPATHOLOGY; HUMAN; ITALY; LYMPHOCYTE; MOTHER; MUTATIONAL ANALYSIS; OVARY CANCER; PRIORITY JOURNAL; SIBLING;

ADULT; CYSTADENOCARCINOMA; FEMALE; FRAMESHIFT MUTATION; GENES, BRCA1; GENETIC PREDISPOSITION TO DISEASE; GERM-LINE MUTATION; HUMANS; MALE; MIDDLE AGED; OVARIAN NEOPLASMS; PEDIGREE; SICILY;

EID: 33645212802     PISSN: 01676806     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10549-005-9049-z     Document Type: Article

References (21)

1. King MC, Marks JH, Handell JB: Breast and ovarian cancer due to inherited mutations in BRCA1 and BRCA2. Science 302: 643, 2003
2. Miki Y, Swensen J, Shattuck-Eidens D, Futreal PA, Harshman K, Tavtigian S, Liu Q, Cochran C, Bennett LM, Ding W, Bell R, Roshental J, Hussey C, Tran T, McClure M, Frue C, Hattier T, Phelps R, Haugen-Strano A, Katcher H, Yakumo K, Gholami Z, Shaffer D, Stone S, Bayer S, Wray C, Bogden R, Dayananth P, Ward J, Tonin P, Narod S, Bristow PK, Norris FH, Helvering L, Morrison P, Rosteck P, Lai M, Barrett JC, Lewis C, Neuhansen S, Cannon-Albright L, Golgarg D, Wiseman R, Kamb A, Skolnich MH: A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1. Science 266(5182): 66-71, 1994
3. Ford D, Easton DF, Bishop DT, Narod SA, Goldgar DE: Risks of cancer in BRCA1-mutation carriers. Lancet 343: 692-5, 1994
4. Cass I, Baldwin LR, Varkey T, Moslehi R, Narod S, Karlan B: Improved survival in women with BRCA-associated ovarian carcinoma. Cancer 97(9): 2187-2195, 2003
5. Malander S, Ridderheim M, Masback A, Loman N, Kristoffersson U, Olsson H, Nilbert M, Borg A: 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
6. Antoniou A, Pharoah PD, Narod S, Risch HA, Eyfjord JE, Hopper JL, Loman N, Olsson H, Johannsson O, Borg A, Pasini B, Radice P, Manoukian S, Eccles DM, Tang N, Olah E, Anton-Culver H, Warner E, Lubinski J, Gronwald J, Gorski B, Tulinius H, Thorlacius S, Eerola H, Nevanlinna H, Syrjakoski K, Kallioniemi OP, Thompson D, Evans C, Peto J, Lalloo F, Evans DG, Easton DF: 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 72(5): 1117-1130, 2003
7. Verhoog LC, Brekelmans CT, Seynaeve C, van den Bosch LM, Dahmen G, van Geel AN, Tilanus-Linthorst MM, Bartels CC, Wagner A, van den Ouweland A, Devilee P, Meijers-Heijboer EJ, Klijn JG: Survival and tumour characteristics of breast-cancer patients with germline mutations of BRCA1. Lancet 2(351): 1359-1360, 1998
8. Easton DF, Narod SA, Ford D, Steel M: The genetic epidemiology of BRCA1.Breast Cancer Linkage Consortium. Lancet 344(8924): 761, 1994
9. Boyd J, Sonoda Y, Federici MG, Bogomolniy F, Rhei E, Maresco DL, Saigo PE, Almadrones LA, Barakat RR, Brown CL, Chi DS, Curtin JP, Poynor EA, Hoskins WJ: Clinicopathologic features of BRCA-linked and sporadic ovarian cancer. JAMA 283: 2260-2265, 2000
10. Hartman AR, Ford JM: BRCA1 induces DNA damage recognition factors and enhances nucleotide excision repair. Nat Genet 32: 180-184, 2002
11. Friedman LS, Szabo CI, Ostermeyer EA, Dowdn P, Butler L, Park T, Lee MK, Goode EL, Rowell SE, King MC: Novel inheredited mutations and variable expressivity of BRCA1 alleles, including the founder mutation 185delG in Ashkenazi Jewish familes. Am J Hum Genet 57: 1284-97, 1995
12. Offit K, Gilewski T, McGuire P, Schulger A, Hampel H, Brown K, Swensen J, Neuhausen S, Skolnick M, Norton L, Goldgard D: Grmline BRCA1 185del AG mutations in Jewish women with breast cancer. Lancet 347: 1643-1645, 1996
13. Risch H.A., McLaughlin J.R., Cole D.E., Rosen B, Bradley L, Kwan E, Jack E, Vesprini DJ, Kuperstein G, Abrahamson JL, Fan I, Wong B, Narod SA: Prevalence and penetrance of germline BRCA1 and BRCA2 mutations in a population series of 649 women with ovarian cancer. Am J Hum Genet 68: 700-710, 2001
14. Stratton JF, Thompson D, Bobrow L, Dalal N, Gore M, Bishop DT, Scott I, Evans G, Daly P, Easton DF, Ponder BA: The genetic epidemiology of early-onset epithelial ovarian cancer - a population-based study. Am J Hum Genet 65: 1725-1732, 1999
15. Ben David Y, Chetrit A, Hirsh-Yechezkel G, Friedman E, Beck BD, Beller U, Ben-Baruch G, Fishman A, Levavi H, Lubin F, Menczer J, Piura B, Struewing JP, Modan B: National Israeli Study of Ovarian Cancer. Effect of BRCA mutations on the length of survival in epithelial ovarian tumors. J Clin Oncol 20: 463-466, 2002
16. Werness BA, Ramus SJ, Whittemore AS, Garlinghouse-Jones K, Oakley-Girvan I, Dicioccio RA, Tsukada Y, Ponder BA, Piver MS: Histopathology of familial ovarian tumors in women from families with and without germline BRCA1 mutations. Hum Pathol 31: 1420-1424, 2000
17. Husain A, He G, Venkatraman ES, Spriggs DR: BRCA1 up-regulation is associated with repair-mediated resistance to cis-diamminedichloroplatinum(II). Cancer Res 58: 1120-1123, 1998
18. Cortez D, Wang Y, Qin J, Elledge SJ: Requirement of ATM-dependent phosphorylation of BRCA1 in the DNA damage response to double-strand breaks. Science 286: 1162-1166, 1999
19. Hodgson SV, Haites NE, Caligo M, Chang-Claude J, Eccles D, Evans G, Moller P, Morrison P, Steel CM, Stoppa-Lyonnet D, Vasen H: A survey of the current clinical facilities for the management of familial cancer in Europe. European Union BIOMED II Demonstration Project: Familial Breast Cancer: audit of a new development in medical practice in European centres. J Med Genet 37(8): 605-607, 2000
20. Gorski B, Byrski T, Huzarski T, Jakubowska A, Menkiszak J, Gronwald J, Pluzánska A, Bebenek M, Fischer-Maliszewska L, Grzybowska E, Narod SA, Lubínski J: Founder mutation in the BRCA1 gene in Polish families with breast/ovarian cancer. Am J Hum Genet 66: 1963-1968, 2000
21. Liede A, Cohen B, Black DM, Davidson RH, Renwick A, Hoodfar E, Olopade OI, Micek M, Anderson V, De Mey R, Fordyce A, Warner E, Dann JL, King MC, Weber B, Narod SA, Steel CM: Evidence of a founder BRCA1 mutation in Scotland. Br J Cancer 82: 705-711, 2000