BRCA1 4153delA founder mutation in Russian ovarian cancer patients
<p>Abstract</p> <p>The BRCA1 4153delA allele is frequently referred to as the Russian founder mutation, as it was initially detected in several cancer families from Moscow. Our earlier studies have demonstrated 1% occurrence of BRCA1 4153delA heterozygosity in familial and/or early...
| Main Authors: | , , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
BMC
2006-09-01
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| Series: | Hereditary Cancer in Clinical Practice |
| Subjects: | |
| Online Access: | http://www.hccpjournal.com/content/4/4/193 |
| _version_ | 1811294309367939072 |
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| author | Krylova Nadezhda Lobeiko Oksana S Sokolenko Anna P Iyevleva Aglaya G Rozanov Maxim E Mitiushkina Natalia V Gergova Madina M Porhanova Tatiana V Urmancheyeva Adel F Maximov Sergey Togo Alexandr V Imyanitov Evgeny N |
| author_facet | Krylova Nadezhda Lobeiko Oksana S Sokolenko Anna P Iyevleva Aglaya G Rozanov Maxim E Mitiushkina Natalia V Gergova Madina M Porhanova Tatiana V Urmancheyeva Adel F Maximov Sergey Togo Alexandr V Imyanitov Evgeny N |
| author_sort | Krylova Nadezhda |
| collection | DOAJ |
| description | <p>Abstract</p> <p>The BRCA1 4153delA allele is frequently referred to as the Russian founder mutation, as it was initially detected in several cancer families from Moscow. Our earlier studies have demonstrated 1% occurrence of BRCA1 4153delA heterozygosity in familial and/or early-onset and/or bilateral Russian breast cancer (BC) patients. Since literature data suggest that the 4153delA variant is more associated with ovarian cancer (OC) than with BC, we expected to reveal a highly elevated frequency of this genotype in Russian ovarian cancer series. However, real-time allele-specific PCR genotyping has detected only two BRCA1 4153delA carriers out of 177 unselected OC patients (1.1%). Both these carriers were early-onset and had serous carcinomas of grade 3. Thus, our study supports neither the Russian origin of BRCA1 4153delA mutation, nor its selectivity towards ovarian <it>versus </it>breast cancer predisposition.</p> |
| first_indexed | 2024-04-13T05:14:34Z |
| format | Article |
| id | doaj.art-59f420f9b52041e888275da6e8cbb3b8 |
| institution | Directory Open Access Journal |
| issn | 1897-4287 |
| language | English |
| last_indexed | 2024-04-13T05:14:34Z |
| publishDate | 2006-09-01 |
| publisher | BMC |
| record_format | Article |
| series | Hereditary Cancer in Clinical Practice |
| spelling | doaj.art-59f420f9b52041e888275da6e8cbb3b82022-12-22T03:00:55ZengBMCHereditary Cancer in Clinical Practice1897-42872006-09-014419319610.1186/1897-4287-4-4-193BRCA1 4153delA founder mutation in Russian ovarian cancer patientsKrylova NadezhdaLobeiko Oksana SSokolenko Anna PIyevleva Aglaya GRozanov Maxim EMitiushkina Natalia VGergova Madina MPorhanova Tatiana VUrmancheyeva Adel FMaximov SergeyTogo Alexandr VImyanitov Evgeny N<p>Abstract</p> <p>The BRCA1 4153delA allele is frequently referred to as the Russian founder mutation, as it was initially detected in several cancer families from Moscow. Our earlier studies have demonstrated 1% occurrence of BRCA1 4153delA heterozygosity in familial and/or early-onset and/or bilateral Russian breast cancer (BC) patients. Since literature data suggest that the 4153delA variant is more associated with ovarian cancer (OC) than with BC, we expected to reveal a highly elevated frequency of this genotype in Russian ovarian cancer series. However, real-time allele-specific PCR genotyping has detected only two BRCA1 4153delA carriers out of 177 unselected OC patients (1.1%). Both these carriers were early-onset and had serous carcinomas of grade 3. Thus, our study supports neither the Russian origin of BRCA1 4153delA mutation, nor its selectivity towards ovarian <it>versus </it>breast cancer predisposition.</p>http://www.hccpjournal.com/content/4/4/193BRCA1ovarian cancerfounder mutationhereditary cancer |
| spellingShingle | Krylova Nadezhda Lobeiko Oksana S Sokolenko Anna P Iyevleva Aglaya G Rozanov Maxim E Mitiushkina Natalia V Gergova Madina M Porhanova Tatiana V Urmancheyeva Adel F Maximov Sergey Togo Alexandr V Imyanitov Evgeny N BRCA1 4153delA founder mutation in Russian ovarian cancer patients Hereditary Cancer in Clinical Practice BRCA1 ovarian cancer founder mutation hereditary cancer |
| title | BRCA1 4153delA founder mutation in Russian ovarian cancer patients |
| title_full | BRCA1 4153delA founder mutation in Russian ovarian cancer patients |
| title_fullStr | BRCA1 4153delA founder mutation in Russian ovarian cancer patients |
| title_full_unstemmed | BRCA1 4153delA founder mutation in Russian ovarian cancer patients |
| title_short | BRCA1 4153delA founder mutation in Russian ovarian cancer patients |
| title_sort | brca1 4153dela founder mutation in russian ovarian cancer patients |
| topic | BRCA1 ovarian cancer founder mutation hereditary cancer |
| url | http://www.hccpjournal.com/content/4/4/193 |
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