Protein truncation test (PTT) and single-strand conformation polymorphism (SSCP) assay were used to scan the BRCA1 and BRCA2 genes in 136 unrelated Italian breast/ovarian cancer patients. In the sample tested, BRCA1 and BRCA2 equally contributed to site-specific breast cancer patients who reported one to two breast cancer-affected first-/ second-degree relative(s) or who were diagnosed before age 40 years in the absence of a family history of breast/ovarian cancer. BRCA1 and BRCA2 mutations were mostly found in patients with disease diagnosis before and after age 50 years, respectively. Moreover, in cases with familial clustering of site-specific breast cancer, BRCA1 mostly accounted for tumours diagnosed before age 40 years and BRCA2 for tumours diagnosed after age 50 years. The BRCA1 and BRCA2 mutation spectrum was consistent with a lack of significant founder effects in the sample of patients studied.

BRCA1 and BRCA2 mutations in central and southern Italian patients / Ottini, Laura; D'Amico, C; Noviello, C; Lauro, Salvatore; Lalle, M; Fornarini, G; Colantuoni, Oa; Pizzi, C; Cortesi, Enrico; Carlini, Sandro; Guadagni, F; Bianco, Ar; Frati, Luigi; Contegiacomo, Alma Gaetana; Mariani Costantini, R.. - In: BREAST CANCER RESEARCH. - ISSN 1465-5411. - STAMPA. - 2:4(2000), pp. 307-310. [10.1186/bcr72]

BRCA1 and BRCA2 mutations in central and southern Italian patients.

OTTINI, LAURA;LAURO, Salvatore;CORTESI, Enrico;CARLINI, Sandro;FRATI, Luigi;CONTEGIACOMO, Alma Gaetana;
2000

Abstract

Protein truncation test (PTT) and single-strand conformation polymorphism (SSCP) assay were used to scan the BRCA1 and BRCA2 genes in 136 unrelated Italian breast/ovarian cancer patients. In the sample tested, BRCA1 and BRCA2 equally contributed to site-specific breast cancer patients who reported one to two breast cancer-affected first-/ second-degree relative(s) or who were diagnosed before age 40 years in the absence of a family history of breast/ovarian cancer. BRCA1 and BRCA2 mutations were mostly found in patients with disease diagnosis before and after age 50 years, respectively. Moreover, in cases with familial clustering of site-specific breast cancer, BRCA1 mostly accounted for tumours diagnosed before age 40 years and BRCA2 for tumours diagnosed after age 50 years. The BRCA1 and BRCA2 mutation spectrum was consistent with a lack of significant founder effects in the sample of patients studied.
2000
BRCA1; BRCA2; BREAST; carcinoma; germline mutations
01 Pubblicazione su rivista::01a Articolo in rivista
BRCA1 and BRCA2 mutations in central and southern Italian patients / Ottini, Laura; D'Amico, C; Noviello, C; Lauro, Salvatore; Lalle, M; Fornarini, G; Colantuoni, Oa; Pizzi, C; Cortesi, Enrico; Carlini, Sandro; Guadagni, F; Bianco, Ar; Frati, Luigi; Contegiacomo, Alma Gaetana; Mariani Costantini, R.. - In: BREAST CANCER RESEARCH. - ISSN 1465-5411. - STAMPA. - 2:4(2000), pp. 307-310. [10.1186/bcr72]
File allegati a questo prodotto
Non ci sono file associati a questo prodotto.

I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11573/5965
 Attenzione

Attenzione! I dati visualizzati non sono stati sottoposti a validazione da parte dell'ateneo

Citazioni
  • ???jsp.display-item.citation.pmc??? 8
  • Scopus 33
  • ???jsp.display-item.citation.isi??? 33
social impact