High penetrances of <it>BRCA1 </it>and <it>BRCA2 </it>mutations confirmed in a prospective series
<p>Abstract</p> <p>Penetrances of <it>BRCA1 </it>and <it>BRCA2 </it>mutations have been derived from retrospective studies, implying the possibility of ascertainment biases to influence the results.</p> <p>We have followed women at risk for breas...
| Main Authors: | , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
BMC
2010-01-01
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| Series: | Hereditary Cancer in Clinical Practice |
| Online Access: | http://www.hccpjournal.com/content/8/1/2 |
| _version_ | 1818021691740127232 |
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| author | Møller Pål Mæhle Lovise Engebretsen Lars F Ludvigsen Trond Jonsrud Christoffer Apold Jaran Vabø Anita Clark Neal |
| author_facet | Møller Pål Mæhle Lovise Engebretsen Lars F Ludvigsen Trond Jonsrud Christoffer Apold Jaran Vabø Anita Clark Neal |
| author_sort | Møller Pål |
| collection | DOAJ |
| description | <p>Abstract</p> <p>Penetrances of <it>BRCA1 </it>and <it>BRCA2 </it>mutations have been derived from retrospective studies, implying the possibility of ascertainment biases to influence the results.</p> <p>We have followed women at risk for breast and/or ovarian cancer for two decades, and report the prospectively observed age-related annual incidence rates to contract breast or ovarian cancer for women with deleterious <it>BRCA1 </it>or <it>BRCA2 </it>mutations based on 4830 observation years. Patients were grouped according to mutation, age and having/not having had previous cancer.</p> <p>In women not having had previous cancer and aged 40-59 years, the annual incidence rate to contract breast or ovarian cancer in those having the most frequent <it>BRCA1 </it>founder mutations was 4.0%, for women in this age group and with less frequent <it>BRCA1 </it>mutations annual incidence rate was 5.9%, and for women with <it>BRCA2 </it>mutations 3.5%.</p> <p>The observed figures may be used for genetic counseling of healthy mutation carriers in the respective age groups. The results may indicate that less frequent <it>BRCA1 </it>mutations have higher penetrances than <it>BRCA1 </it>founder mutations.</p> |
| first_indexed | 2024-04-14T08:21:06Z |
| format | Article |
| id | doaj.art-a8113549218b47db9090f44dcd8b5c3c |
| institution | Directory Open Access Journal |
| issn | 1897-4287 |
| language | English |
| last_indexed | 2024-04-14T08:21:06Z |
| publishDate | 2010-01-01 |
| publisher | BMC |
| record_format | Article |
| series | Hereditary Cancer in Clinical Practice |
| spelling | doaj.art-a8113549218b47db9090f44dcd8b5c3c2022-12-22T02:04:12ZengBMCHereditary Cancer in Clinical Practice1897-42872010-01-0181210.1186/1897-4287-8-2High penetrances of <it>BRCA1 </it>and <it>BRCA2 </it>mutations confirmed in a prospective seriesMøller PålMæhle LoviseEngebretsen Lars FLudvigsen TrondJonsrud ChristofferApold JaranVabø AnitaClark Neal<p>Abstract</p> <p>Penetrances of <it>BRCA1 </it>and <it>BRCA2 </it>mutations have been derived from retrospective studies, implying the possibility of ascertainment biases to influence the results.</p> <p>We have followed women at risk for breast and/or ovarian cancer for two decades, and report the prospectively observed age-related annual incidence rates to contract breast or ovarian cancer for women with deleterious <it>BRCA1 </it>or <it>BRCA2 </it>mutations based on 4830 observation years. Patients were grouped according to mutation, age and having/not having had previous cancer.</p> <p>In women not having had previous cancer and aged 40-59 years, the annual incidence rate to contract breast or ovarian cancer in those having the most frequent <it>BRCA1 </it>founder mutations was 4.0%, for women in this age group and with less frequent <it>BRCA1 </it>mutations annual incidence rate was 5.9%, and for women with <it>BRCA2 </it>mutations 3.5%.</p> <p>The observed figures may be used for genetic counseling of healthy mutation carriers in the respective age groups. The results may indicate that less frequent <it>BRCA1 </it>mutations have higher penetrances than <it>BRCA1 </it>founder mutations.</p>http://www.hccpjournal.com/content/8/1/2 |
| spellingShingle | Møller Pål Mæhle Lovise Engebretsen Lars F Ludvigsen Trond Jonsrud Christoffer Apold Jaran Vabø Anita Clark Neal High penetrances of <it>BRCA1 </it>and <it>BRCA2 </it>mutations confirmed in a prospective series Hereditary Cancer in Clinical Practice |
| title | High penetrances of <it>BRCA1 </it>and <it>BRCA2 </it>mutations confirmed in a prospective series |
| title_full | High penetrances of <it>BRCA1 </it>and <it>BRCA2 </it>mutations confirmed in a prospective series |
| title_fullStr | High penetrances of <it>BRCA1 </it>and <it>BRCA2 </it>mutations confirmed in a prospective series |
| title_full_unstemmed | High penetrances of <it>BRCA1 </it>and <it>BRCA2 </it>mutations confirmed in a prospective series |
| title_short | High penetrances of <it>BRCA1 </it>and <it>BRCA2 </it>mutations confirmed in a prospective series |
| title_sort | high penetrances of it brca1 it and it brca2 it mutations confirmed in a prospective series |
| url | http://www.hccpjournal.com/content/8/1/2 |
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