Role of <it>BRCA2 </it>mutation status on overall survival among breast cancer patients from Sardinia
<p>Abstract</p> <p>Background</p> <p>Germline mutations in <it>BRCA1 </it>or <it>BRCA2 </it>genes have been demonstrated to increase the risk of developing breast cancer. Conversely, the impact of <it>BRCA </it>mutations on prognosis...
| Main Authors: | , , , , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
BMC
2009-02-01
|
| Series: | BMC Cancer |
| Online Access: | http://www.biomedcentral.com/1471-2407/9/62 |
| _version_ | 1828494928367321088 |
|---|---|
| author | Pisano Marina Tanda Francesco Cossu Antonio Pirino Daniela Sechi Ornelia Coviello Vincenzo Cesaraccio Rosaria Budroni Mario Palomba Grazia Palmieri Giuseppe |
| author_facet | Pisano Marina Tanda Francesco Cossu Antonio Pirino Daniela Sechi Ornelia Coviello Vincenzo Cesaraccio Rosaria Budroni Mario Palomba Grazia Palmieri Giuseppe |
| author_sort | Pisano Marina |
| collection | DOAJ |
| description | <p>Abstract</p> <p>Background</p> <p>Germline mutations in <it>BRCA1 </it>or <it>BRCA2 </it>genes have been demonstrated to increase the risk of developing breast cancer. Conversely, the impact of <it>BRCA </it>mutations on prognosis and survival of breast cancer patients is still debated. In this study, we investigated the role of such mutations on breast cancer-specific survival among patients from North Sardinia.</p> <p>Methods</p> <p>Among incident cases during the period 1997–2002, a total of 512 breast cancer patients gave their consent to undergo <it>BRCA </it>mutation screening by DHPLC analysis and automated DNA sequencing. The Hakulinen, Kaplan-Meier, and Cox regression methods were used for both relative survival assessment and statistical analysis.</p> <p>Results</p> <p>In our series, patients carrying a germline mutation in coding regions and splice boundaries of <it>BRCA1 </it>and <it>BRCA2 </it>genes were 48/512 (9%). Effect on overall survival was evaluated taking into consideration <it>BRCA2 </it>carriers, who represented the vast majority (44/48; 92%) of mutation-positive patients. A lower breast cancer-specific overall survival rate was observed in <it>BRCA2 </it>mutation carriers after the first two years from diagnosis. However, survival rates were similar in both groups after five years from diagnosis. No significant difference was found for age of onset, disease stage, and primary tumour histopathology between the two subsets.</p> <p>Conclusion</p> <p>In Sardinian breast cancer population, <it>BRCA2 </it>was the most affected gene and the effects of <it>BRCA2 </it>germline mutations on patients' survival were demonstrated to vary within the first two years from diagnosis. After a longer follow-up observation, breast cancer-specific rates of death were instead similar for <it>BRCA2 </it>mutation carriers and non-carriers.</p> |
| first_indexed | 2024-12-11T12:04:16Z |
| format | Article |
| id | doaj.art-8c89cfa19e1b43448614770e756b89c0 |
| institution | Directory Open Access Journal |
| issn | 1471-2407 |
| language | English |
| last_indexed | 2024-12-11T12:04:16Z |
| publishDate | 2009-02-01 |
| publisher | BMC |
| record_format | Article |
| series | BMC Cancer |
| spelling | doaj.art-8c89cfa19e1b43448614770e756b89c02022-12-22T01:07:58ZengBMCBMC Cancer1471-24072009-02-01916210.1186/1471-2407-9-62Role of <it>BRCA2 </it>mutation status on overall survival among breast cancer patients from SardiniaPisano MarinaTanda FrancescoCossu AntonioPirino DanielaSechi OrneliaCoviello VincenzoCesaraccio RosariaBudroni MarioPalomba GraziaPalmieri Giuseppe<p>Abstract</p> <p>Background</p> <p>Germline mutations in <it>BRCA1 </it>or <it>BRCA2 </it>genes have been demonstrated to increase the risk of developing breast cancer. Conversely, the impact of <it>BRCA </it>mutations on prognosis and survival of breast cancer patients is still debated. In this study, we investigated the role of such mutations on breast cancer-specific survival among patients from North Sardinia.</p> <p>Methods</p> <p>Among incident cases during the period 1997–2002, a total of 512 breast cancer patients gave their consent to undergo <it>BRCA </it>mutation screening by DHPLC analysis and automated DNA sequencing. The Hakulinen, Kaplan-Meier, and Cox regression methods were used for both relative survival assessment and statistical analysis.</p> <p>Results</p> <p>In our series, patients carrying a germline mutation in coding regions and splice boundaries of <it>BRCA1 </it>and <it>BRCA2 </it>genes were 48/512 (9%). Effect on overall survival was evaluated taking into consideration <it>BRCA2 </it>carriers, who represented the vast majority (44/48; 92%) of mutation-positive patients. A lower breast cancer-specific overall survival rate was observed in <it>BRCA2 </it>mutation carriers after the first two years from diagnosis. However, survival rates were similar in both groups after five years from diagnosis. No significant difference was found for age of onset, disease stage, and primary tumour histopathology between the two subsets.</p> <p>Conclusion</p> <p>In Sardinian breast cancer population, <it>BRCA2 </it>was the most affected gene and the effects of <it>BRCA2 </it>germline mutations on patients' survival were demonstrated to vary within the first two years from diagnosis. After a longer follow-up observation, breast cancer-specific rates of death were instead similar for <it>BRCA2 </it>mutation carriers and non-carriers.</p>http://www.biomedcentral.com/1471-2407/9/62 |
| spellingShingle | Pisano Marina Tanda Francesco Cossu Antonio Pirino Daniela Sechi Ornelia Coviello Vincenzo Cesaraccio Rosaria Budroni Mario Palomba Grazia Palmieri Giuseppe Role of <it>BRCA2 </it>mutation status on overall survival among breast cancer patients from Sardinia BMC Cancer |
| title | Role of <it>BRCA2 </it>mutation status on overall survival among breast cancer patients from Sardinia |
| title_full | Role of <it>BRCA2 </it>mutation status on overall survival among breast cancer patients from Sardinia |
| title_fullStr | Role of <it>BRCA2 </it>mutation status on overall survival among breast cancer patients from Sardinia |
| title_full_unstemmed | Role of <it>BRCA2 </it>mutation status on overall survival among breast cancer patients from Sardinia |
| title_short | Role of <it>BRCA2 </it>mutation status on overall survival among breast cancer patients from Sardinia |
| title_sort | role of it brca2 it mutation status on overall survival among breast cancer patients from sardinia |
| url | http://www.biomedcentral.com/1471-2407/9/62 |
| work_keys_str_mv | AT pisanomarina roleofitbrca2itmutationstatusonoverallsurvivalamongbreastcancerpatientsfromsardinia AT tandafrancesco roleofitbrca2itmutationstatusonoverallsurvivalamongbreastcancerpatientsfromsardinia AT cossuantonio roleofitbrca2itmutationstatusonoverallsurvivalamongbreastcancerpatientsfromsardinia AT pirinodaniela roleofitbrca2itmutationstatusonoverallsurvivalamongbreastcancerpatientsfromsardinia AT sechiornelia roleofitbrca2itmutationstatusonoverallsurvivalamongbreastcancerpatientsfromsardinia AT coviellovincenzo roleofitbrca2itmutationstatusonoverallsurvivalamongbreastcancerpatientsfromsardinia AT cesaracciorosaria roleofitbrca2itmutationstatusonoverallsurvivalamongbreastcancerpatientsfromsardinia AT budronimario roleofitbrca2itmutationstatusonoverallsurvivalamongbreastcancerpatientsfromsardinia AT palombagrazia roleofitbrca2itmutationstatusonoverallsurvivalamongbreastcancerpatientsfromsardinia AT palmierigiuseppe roleofitbrca2itmutationstatusonoverallsurvivalamongbreastcancerpatientsfromsardinia |