التفاصيل البيبلوغرافية
| العنوان: |
Different expressivity of BRCA1 and BRCA2: analysis of 179 Italian pedigrees with identified mutation. |
| المؤلفون: |
Aretini P, D'Andrea E, Viel A, Mariani Costantini R, Cortesi L, Ricevuto E, Agata S, Bisegna R, Boiocchi M, Caligo MA, Chieco Bianchi L, Cipollini G, Crucianelli R, D'Amico C, Federico M, Ghimenti C, De Giacomi C, De Nicolo A, Della Puppa L, Ferrari S, Ficorella C, Iandolo D, Manoukian S, Marchetti P, Marroni F, Menin C, Montagna M, Ottini L, Pensotti V, Pierotti M, Radice P, Santarosa M, Silingardi V, Turchetti D, Bevilacqua G, Presciuttini S., PASINI, Barbara |
| المساهمون: |
Aretini P, D'Andrea E, Pasini B, Viel A, Mariani Costantini R, Cortesi L, Ricevuto E, Agata S, Bisegna R, Boiocchi M, Caligo MA, Chieco-Bianchi L, Cipollini G, Crucianelli R, D'Amico C, Federico M, Ghimenti C, De Giacomi C, De Nicolo A, Della Puppa L, Ferrari S, Ficorella C, Iandolo D, Manoukian S, Marchetti P, Marroni F, Menin C, Montagna M, Ottini L, Pensotti V, Pierotti M, Radice P, Santarosa M, Silingardi V, Turchetti D, Bevilacqua G, Presciuttini S. |
| سنة النشر: |
2003 |
| المجموعة: |
Università degli studi di Torino: AperTo (Archivio Istituzionale ad Accesso Aperto) |
| مصطلحات موضوعية: |
BRCA1, BRCA2, cancer risk |
| الوصف: |
Mutations in BRCA1 and BRCA2 show different expressivity with respect to cancer risk, and allelic heterogeneity may be present in both genes. We collected 179 pedigrees with identified germline mutation (104 BRCA1 and 75 BRCA2), ascertained in six collaborating centers of the Italian Consortium for Hereditary Breast and Ovarian Cancer. Significant heterogeneity was detected for several variables, and a logistic regression model including age of diagnosis in the proband, presence of ovarian cancer in the family, presence of prostate or pancreatic cancer in the family, and presence of male breast cancer in the family proved to be effective in predicting the presence of a mutation in a gene rather than the other. Excess of familial aggregation of both breast and ovarian cancer was observed in both genes. Proportion of ovarian cancer was increased in the 5' portion of BRCA1, and presence of prostate or pancreatic cancer in a family was correlated with presence of ovarian cancer in BRCA2. |
| نوع الوثيقة: |
article in journal/newspaper |
| اللغة: |
English |
| العلاقة: |
info:eu-repo/semantics/altIdentifier/pmid/14531499; info:eu-repo/semantics/altIdentifier/wos/WOS:000184913800008; volume:81; firstpage:71; lastpage:79; journal:BREAST CANCER RESEARCH AND TREATMENT; http://hdl.handle.net/2318/32811Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-10744231192 |
| الإتاحة: |
http://hdl.handle.net/2318/32811Test |
| رقم الانضمام: |
edsbas.223B0B33 |
| قاعدة البيانات: |
BASE |
