The BRCA1 and BRCA2 genes are involved in genetic susceptibility to breast cancer (BC). Nevertheless, in a relevant number of families displaying a disease pattern suggesting an inherited susceptibility to BC, mutational analysis fails to detect any defect in the BRCA genes. Therefore, women belonging to such families should be considered eligible for programs aimed at BC control in individuals at hereditary risk. A clinico-mammographic surveillance program for women at high genetic risk, as defined on the basis of pedigree, has been carried out at our centre for ten years, leading to the diagnosis of 19 new BC cases. Only in 13% of the families analysed, the underlying genetic defect was evidenced in BRCA1 or 2. Here we describe two BC prone families where, although no mutations were detected in BRCA genes, follow-up confirmed an increased BC incidence. In three women belonging to these families clinico-mammographic surveillance resulted to be successful in detecting early-stage BC, supporting the usefulness of screening women from high-risk families, irrespective of whether a mutation was found.

Hereditary risk of breast cancer: not only brca / D., Turchetti; L., Cortesi; Federico, Massimo; Romagnoli, Renato; Silingardi, Vittorio. - In: JOURNAL OF EXPERIMENTAL & CLINICAL CANCER RESEARCH. - ISSN 0392-9078. - STAMPA. - 21 (3):(2002), pp. 17-21.

Hereditary risk of breast cancer: not only brca

FEDERICO, Massimo;ROMAGNOLI, Renato;SILINGARDI, Vittorio
2002

Abstract

The BRCA1 and BRCA2 genes are involved in genetic susceptibility to breast cancer (BC). Nevertheless, in a relevant number of families displaying a disease pattern suggesting an inherited susceptibility to BC, mutational analysis fails to detect any defect in the BRCA genes. Therefore, women belonging to such families should be considered eligible for programs aimed at BC control in individuals at hereditary risk. A clinico-mammographic surveillance program for women at high genetic risk, as defined on the basis of pedigree, has been carried out at our centre for ten years, leading to the diagnosis of 19 new BC cases. Only in 13% of the families analysed, the underlying genetic defect was evidenced in BRCA1 or 2. Here we describe two BC prone families where, although no mutations were detected in BRCA genes, follow-up confirmed an increased BC incidence. In three women belonging to these families clinico-mammographic surveillance resulted to be successful in detecting early-stage BC, supporting the usefulness of screening women from high-risk families, irrespective of whether a mutation was found.
21 (3)
17
21
Hereditary risk of breast cancer: not only brca / D., Turchetti; L., Cortesi; Federico, Massimo; Romagnoli, Renato; Silingardi, Vittorio. - In: JOURNAL OF EXPERIMENTAL & CLINICAL CANCER RESEARCH. - ISSN 0392-9078. - STAMPA. - 21 (3):(2002), pp. 17-21.
D., Turchetti; L., Cortesi; Federico, Massimo; Romagnoli, Renato; Silingardi, Vittorio
File in questo prodotto:
File Dimensione Formato  
Hereditary risk of breast......pdf

accesso aperto

Tipologia: Versione dell'editore (versione pubblicata)
Dimensione 458.34 kB
Formato Adobe PDF
458.34 kB Adobe PDF Visualizza/Apri
Pubblicazioni consigliate

Caricamento pubblicazioni consigliate

Licenza Creative Commons
I metadati presenti in IRIS UNIMORE sono rilasciati con licenza Creative Commons CC0 1.0 Universal, mentre i file delle pubblicazioni sono rilasciati con licenza Attribuzione 4.0 Internazionale (CC BY 4.0), salvo diversa indicazione.
In caso di violazione di copyright, contattare Supporto Iris

Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11380/305404
Citazioni
  • ???jsp.display-item.citation.pmc??? 0
  • Scopus 4
  • ???jsp.display-item.citation.isi??? 1
social impact