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Novel BRCA1 and BRCA2 germline mutations and assessment of mutation spectrum and prevalence in Italian breast and/or ovarian cancer families.
Breast Cancer Res Treat. 2006 Nov; 100(1):83-91.BC

Abstract

Familial aggregations of breast/ovarian cancer cases frequently depend on BRCA1/2 pathogenic mutations. Here we counselled 120 Italian breast/ovarian cancer families and selected 73 probands for BRCA1/2 mutation screening. Through this analysis we defined the prevalence of BRCA1/2 pathogenic mutations occurring in Italian breast/ovarian cancer families, enlarged the spectrum of Italian BRCA1/2 mutations by 15% and report on the identification of 13 novel variants, including two deleterious truncating mutations and two potentially pathogenic missense mutations, on the BRCA1 and BRCA2 genes. Finally in hereditary breast cancer families with three or more female breast cancer cases we observed a low mutation prevalence and a significant association with BRCA2 mutations.

Authors+Show Affiliations

Department of Experimental Medicine and Pathology, University La Sapienza, Policlinico Umberto I Viale Regina Elena, 324, 00161 Rome, Italy. giuseppe.giannini@uniroma1.itNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

16847550

Citation

Giannini, Giuseppe, et al. "Novel BRCA1 and BRCA2 Germline Mutations and Assessment of Mutation Spectrum and Prevalence in Italian Breast And/or Ovarian Cancer Families." Breast Cancer Research and Treatment, vol. 100, no. 1, 2006, pp. 83-91.
Giannini G, Capalbo C, Ristori E, et al. Novel BRCA1 and BRCA2 germline mutations and assessment of mutation spectrum and prevalence in Italian breast and/or ovarian cancer families. Breast Cancer Res Treat. 2006;100(1):83-91.
Giannini, G., Capalbo, C., Ristori, E., Ricevuto, E., Sidoni, T., Buffone, A., Cortesi, E., Marchetti, P., Scambia, G., Tomao, S., Rinaldi, C., Zani, M., Ferraro, S., Frati, L., Screpanti, I., & Gulino, A. (2006). Novel BRCA1 and BRCA2 germline mutations and assessment of mutation spectrum and prevalence in Italian breast and/or ovarian cancer families. Breast Cancer Research and Treatment, 100(1), 83-91.
Giannini G, et al. Novel BRCA1 and BRCA2 Germline Mutations and Assessment of Mutation Spectrum and Prevalence in Italian Breast And/or Ovarian Cancer Families. Breast Cancer Res Treat. 2006;100(1):83-91. PubMed PMID: 16847550.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Novel BRCA1 and BRCA2 germline mutations and assessment of mutation spectrum and prevalence in Italian breast and/or ovarian cancer families. AU - Giannini,Giuseppe, AU - Capalbo,Carlo, AU - Ristori,Elisabetta, AU - Ricevuto,Enrico, AU - Sidoni,Tina, AU - Buffone,Amelia, AU - Cortesi,Enrico, AU - Marchetti,Paolo, AU - Scambia,Giovanni, AU - Tomao,Silverio, AU - Rinaldi,Christian, AU - Zani,Massimo, AU - Ferraro,Sergio, AU - Frati,Luigi, AU - Screpanti,Isabella, AU - Gulino,Alberto, Y1 - 2006/05/09/ PY - 2005/12/12/received PY - 2006/03/11/accepted PY - 2006/7/19/pubmed PY - 2007/7/28/medline PY - 2006/7/19/entrez SP - 83 EP - 91 JF - Breast cancer research and treatment JO - Breast Cancer Res Treat VL - 100 IS - 1 N2 - Familial aggregations of breast/ovarian cancer cases frequently depend on BRCA1/2 pathogenic mutations. Here we counselled 120 Italian breast/ovarian cancer families and selected 73 probands for BRCA1/2 mutation screening. Through this analysis we defined the prevalence of BRCA1/2 pathogenic mutations occurring in Italian breast/ovarian cancer families, enlarged the spectrum of Italian BRCA1/2 mutations by 15% and report on the identification of 13 novel variants, including two deleterious truncating mutations and two potentially pathogenic missense mutations, on the BRCA1 and BRCA2 genes. Finally in hereditary breast cancer families with three or more female breast cancer cases we observed a low mutation prevalence and a significant association with BRCA2 mutations. SN - 0167-6806 UR - https://www.unboundmedicine.com/medline/citation/16847550/Novel_BRCA1_and_BRCA2_germline_mutations_and_assessment_of_mutation_spectrum_and_prevalence_in_Italian_breast_and/or_ovarian_cancer_families_ L2 - https://doi.org/10.1007/s10549-006-9225-9 DB - PRIME DP - Unbound Medicine ER -