We report the first case in Italy of a non-Ashkenazi double heterozygote for BRCA1 and BRCA2 genes. This finding is predictably rare, with a maximum frequency of 1/250,000. The proband and her mother were diagnosed with early-onset breast cancer. No other relatives with breast and/or ovarian cancer were observed. The implications of this case in regard to genetic testing and counseling are substantial.

A breast cancer patient from Italy with germline mutations in both the BRCA1 and BRCA2 genes / Musolino, A; Naldi, N; Michiara, M; Bella, Ma; Zanelli, P; Bortesi, B; Capelletti, M; Savi, Mario; Neri, Tauro Maria; Ardizzoni, A.; May, .; PMID PUBMED INDEXED FOR, Medline. - In: BREAST CANCER RESEARCH AND TREATMENT. - ISSN 0167-6806. - 91:(2005), pp. 203-205. [10.1007/s10549-004-7704-4]

A breast cancer patient from Italy with germline mutations in both the BRCA1 and BRCA2 genes

MUSOLINO A;SAVI, Mario;NERI, Tauro Maria;
2005-01-01

Abstract

We report the first case in Italy of a non-Ashkenazi double heterozygote for BRCA1 and BRCA2 genes. This finding is predictably rare, with a maximum frequency of 1/250,000. The proband and her mother were diagnosed with early-onset breast cancer. No other relatives with breast and/or ovarian cancer were observed. The implications of this case in regard to genetic testing and counseling are substantial.
A breast cancer patient from Italy with germline mutations in both the BRCA1 and BRCA2 genes / Musolino, A; Naldi, N; Michiara, M; Bella, Ma; Zanelli, P; Bortesi, B; Capelletti, M; Savi, Mario; Neri, Tauro Maria; Ardizzoni, A.; May, .; PMID PUBMED INDEXED FOR, Medline. - In: BREAST CANCER RESEARCH AND TREATMENT. - ISSN 0167-6806. - 91:(2005), pp. 203-205. [10.1007/s10549-004-7704-4]
File in questo prodotto:
File Dimensione Formato  
A-breast-cancer-patient-from-Italy-with-germline-mutations-in-both-the-BRCA1-and-BRCA2-genes_2005_Breast-Cancer-Research-and-Treatment.pdf

non disponibili

Tipologia: Documento in Post-print
Licenza: NON PUBBLICO - Accesso privato/ristretto
Dimensione 181.29 kB
Formato Adobe PDF
181.29 kB Adobe PDF   Visualizza/Apri   Richiedi una copia

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/11381/1446106
Citazioni
  • ???jsp.display-item.citation.pmc??? ND
  • Scopus ND
  • ???jsp.display-item.citation.isi??? ND
social impact