Novel deletion at codon 1254 of the BRCA1 gene in an Italian breast cancer kindred
Laura Ottini
Institute of Human Pathology, University “Gabriele D'Annunzio,” Chieti, Italy
Search for more papers by this authorCristina D'Amico
Department of Experimental Medicine and Pathology, University “La Sapienza,” Rome, Italy
Search for more papers by this authorCristiana Noviello
Department of Experimental Medicine and Pathology, University “La Sapienza,” Rome, Italy
Search for more papers by this authorClaudia Pizzi
Department of Molecular and Clinical Endocrinology and Oncology, University “Federico II,” Naples, Italy
Search for more papers by this authorClorindo Pagliarulo
Department of Molecular and Clinical Endocrinology and Oncology, University “Federico II,” Naples, Italy
Search for more papers by this authorMaria Cristina Curia
Institute of Human Pathology, University “Gabriele D'Annunzio,” Chieti, Italy
Search for more papers by this authorGennaro Limite
Department of Molecular and Clinical Endocrinology and Oncology, University “Federico II,” Naples, Italy
Search for more papers by this authorAngelo Raffaele Bianco
Department of Molecular and Clinical Endocrinology and Oncology, University “Federico II,” Naples, Italy
Search for more papers by this authorLuigi Frati
Department of Experimental Medicine and Pathology, University “La Sapienza,” Rome, Italy
Search for more papers by this authorFelice Giacomo Caramia
Department of Experimental Medicine and Pathology, University “La Sapienza,” Rome, Italy
Search for more papers by this authorAlessandro Cama
Institute of Human Pathology, University “Gabriele D'Annunzio,” Chieti, Italy
Search for more papers by this authorAlma Contegiacomo
Department of Molecular and Clinical Endocrinology and Oncology, University “Federico II,” Naples, Italy
Search for more papers by this authorCorresponding Author
Prof. Renato Mariani-Costantini
Institute of Human Pathology, University “Gabriele D'Annunzio,” Chieti, Italy
Istituto di Patologia Umana e Medicina Sociale, Università “Gabriele D'Annunzio,” Via dei Vestini 1, 66013 Chieti, ItalySearch for more papers by this authorLaura Ottini
Institute of Human Pathology, University “Gabriele D'Annunzio,” Chieti, Italy
Search for more papers by this authorCristina D'Amico
Department of Experimental Medicine and Pathology, University “La Sapienza,” Rome, Italy
Search for more papers by this authorCristiana Noviello
Department of Experimental Medicine and Pathology, University “La Sapienza,” Rome, Italy
Search for more papers by this authorClaudia Pizzi
Department of Molecular and Clinical Endocrinology and Oncology, University “Federico II,” Naples, Italy
Search for more papers by this authorClorindo Pagliarulo
Department of Molecular and Clinical Endocrinology and Oncology, University “Federico II,” Naples, Italy
Search for more papers by this authorMaria Cristina Curia
Institute of Human Pathology, University “Gabriele D'Annunzio,” Chieti, Italy
Search for more papers by this authorGennaro Limite
Department of Molecular and Clinical Endocrinology and Oncology, University “Federico II,” Naples, Italy
Search for more papers by this authorAngelo Raffaele Bianco
Department of Molecular and Clinical Endocrinology and Oncology, University “Federico II,” Naples, Italy
Search for more papers by this authorLuigi Frati
Department of Experimental Medicine and Pathology, University “La Sapienza,” Rome, Italy
Search for more papers by this authorFelice Giacomo Caramia
Department of Experimental Medicine and Pathology, University “La Sapienza,” Rome, Italy
Search for more papers by this authorAlessandro Cama
Institute of Human Pathology, University “Gabriele D'Annunzio,” Chieti, Italy
Search for more papers by this authorAlma Contegiacomo
Department of Molecular and Clinical Endocrinology and Oncology, University “Federico II,” Naples, Italy
Search for more papers by this authorCorresponding Author
Prof. Renato Mariani-Costantini
Institute of Human Pathology, University “Gabriele D'Annunzio,” Chieti, Italy
Istituto di Patologia Umana e Medicina Sociale, Università “Gabriele D'Annunzio,” Via dei Vestini 1, 66013 Chieti, ItalySearch for more papers by this author
References
- Cama A, Sierra ML, Ottini L, Kadowaki T, Imperato-McGinley J, Taylor SI (1991) A mutation in the tyrosine kinase domain of the insulin receptor causing insulin resistance in an obese woman. J Clin Endocrinol Metab 73: 894–899.
- Colditz GA, Rosner BA, Speizer FE (1996) Risk factors for breast cancer according to family history of breast cancer. J Natl Cancer Inst 88: 365–371.
- Fitzgerald MG, MacDonald DJ, Krainer M, Hoover I, O'Neil E, Unsal H, Silva-Arrieto S, Finkelstein DM, Beer-Romero P, Englert C, Sgroi DC, Smith BL, Younger JW, Garber JE, Duda RB, Mayzel KA, Isselbacher KJ, Friend SH, Harber DA (1996) Germ-line BRCA1 mutations in Jewish and non-Jewish women with early-onset breast cancer. N Engl J Med 334: 143–149.
- Ford D, Easton DF, Bishop DT, Narod SA, Goldgar DE (1994) Breast cancer linkage consortium: Risk of breast cancerin BRCA1-mutation carriers. Lancet 343: 692–695.
- Hogervorst FBL, Cornelis RS, Bout M, van Vlier M, Oosterwijk JC, Olmer R, Bakker B, Klijn JGM, Vasen HFA, Meijers-Heijboer H, Menko FH, Cornelisse CJ, den Dunnen JT, Devilee P, van Ommen GJB (1995) Rapid detection of BRCA1 mutations by the protein truncation test. Nature Genet 10: 208–212.
- Lindblom A (1995) Familial breast cancer and genes involved in breast carcinogenesis. Breast Cancer Res Treat 34: 171–183.
- Miki Y, Swensen J, Shattuck-Eidens D, Futreal PA, Harshman K, Tavtigian S, Liu Q, Cochran C, Bennet LM, Ding W, Bell R, Rosenthal J, Hussey C, Tran T, McClure M, Frye C, Hattler 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, Barret JC, Lewis C, Neuhausen S, Cannon-Albright L, Golgar D, Wiseman R, Kamb A, Skolnick MH (1994) A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1. Science 266: 66–71.
- Phelan CM, Rebbeck TR, Weber BL, Devilee P, Ruttledge MH, Lynch HT, Lenoir GM, Stratton MR, Easton DF, Ponder BAJ, Cannon-Albright L, Larsson C, Goldgar DE, Narod SA (1996) Ovarian cancer risk in BRCA1 carriers is modified by the HRAS1 variable number of tendem repeat (VNTR) locus. Nature Genet. 12: 309–311.
- Powell SM, Peterson GM, Krush AJ, Booker S, Jen J, Giardiello FM, Hamilton SR, Vogelstein B, Kinzler KW (1993) Molecular diagnosis of familial adenomatous polyposis. N Engl J Med 329: 1982–1987.
- Rodenhiser D, Chakraborty P, Andrews J, Ainsworth P, Mancini D, Lopes E, Singh S (1996) Heterogeneous point mutations in the BRCA1 breast cancer susceptibility gene occur at high frequency at the site of homonucleotide tracts, short repeats and methylable CpG/CpNpG motifs. Onocogene 12: 2623–2629.
- Shattuck-Eidens D, McClure M, Simard J, Labrie F, Narod S, Couch F, Hoskins K, Weber B, Castilla L, Erdos M, Brody L, Friedman L, Ostermeyer E, Szabo C, King MC, Jhanwar S, Offit K, Norton L, Gilewski T, Lubin M, Osborne M, Black D, Boyd M, Steel M, Ingles S, Haile R, Lindblom A, Olsson H, Borg A, Bishop DT, Solomon E, Radice P, Spatti G, Gayther S, Ponder B, Warren W, Stratton M, Liu Q, Fujimura F, Lewis C, Skolnick MH, Goldgar DE (1995) A collaborative survey of 80 mutations in the BRCA1 breast and ovarian cancer susceptibility gene. JAMA 273: 535–541.
- Szabo CI and King MC (1995) Inherited breast and ovarian cancer. Hum Mol Genet 4: 1811–1817.
- van der Luijt R, Khan PM, Vasen H, van Leeuwen C, Tops C, Roest P, den Dunnen J, Fodde R (1994) Rapid detection of translation-terminating mutations at the adenomatous polyposis coli (APC) gene by direct protein truncation test. Genomics 20: 1–4.
