A novel BRCA1 mutation in an identical twin pair with similar clinical histories
Factors affecting the penetrance and expression of BRCA1 are not understood. Breast cancer risk and ovarian cancer risk, in general, are known to be associated with non-Mendelian factors. However, whether and how these various factors influence tumor development in BRCA1 mutation carriers is not kno...
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| Veröffentlicht in: | Cancer genetics and cytogenetics 1998, Vol.100 (1), p.43-48 |
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| creator | Miesfeldt, Susan Turner, Beverely L Lovell, Mark A Cooper, Michael R Lescallett, Jennifer Jones, Susan M |
| description | Factors affecting the penetrance and expression of BRCA1 are not understood. Breast cancer risk and ovarian cancer risk, in general, are known to be associated with non-Mendelian factors. However, whether and how these various factors influence tumor development in BRCA1 mutation carriers is not known. Here we report the breast and ovarian cancer syndrome in an identical twin pair. These female identical twins had remarkably similar clinical histories. Both twins developed histologically similar ovarian cancer in their mid-fifties. One twin was diagnosed with stage III disease and died of refractory metastatic disease. The other twin was diagnosed with stage I disease but ultimately died of recurrent disease. Neither twin developed breast or colon cancer. The twins have both similarities and differences in terms of nongenetic cancer-related risk factors. Results of BRCA1 analysis of DNA from both twins revealed a novel mutation, 2711delA, which resulted in a premature termination at codon 892. This report has intriguing implications concerning the role of genotype in the ultimate penetrance and expression of disease among BRCA1 mutation carriers. |
| doi_str_mv | 10.1016/S0165-4608(97)00006-X |
| format | Article |
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Breast cancer risk and ovarian cancer risk, in general, are known to be associated with non-Mendelian factors. However, whether and how these various factors influence tumor development in BRCA1 mutation carriers is not known. Here we report the breast and ovarian cancer syndrome in an identical twin pair. These female identical twins had remarkably similar clinical histories. Both twins developed histologically similar ovarian cancer in their mid-fifties. One twin was diagnosed with stage III disease and died of refractory metastatic disease. The other twin was diagnosed with stage I disease but ultimately died of recurrent disease. Neither twin developed breast or colon cancer. The twins have both similarities and differences in terms of nongenetic cancer-related risk factors. Results of BRCA1 analysis of DNA from both twins revealed a novel mutation, 2711delA, which resulted in a premature termination at codon 892. This report has intriguing implications concerning the role of genotype in the ultimate penetrance and expression of disease among BRCA1 mutation carriers.</description><subject>Biological and medical sciences</subject><subject>Birth control</subject><subject>Breast Neoplasms - genetics</subject><subject>Diseases in Twins</subject><subject>Female</subject><subject>Genes, BRCA1</subject><subject>Gynecology. Andrology. Obstetrics</subject><subject>Humans</subject><subject>Medical sciences</subject><subject>Middle Aged</subject><subject>Mutation</subject><subject>Other methods of contraception. 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Andrology. Obstetrics</topic><topic>Humans</topic><topic>Medical sciences</topic><topic>Middle Aged</topic><topic>Mutation</topic><topic>Other methods of contraception. Sterilization</topic><topic>Ovarian Neoplasms - genetics</topic><topic>Twins, Monozygotic</topic><toplevel>online_resources</toplevel><creatorcontrib>Miesfeldt, Susan</creatorcontrib><creatorcontrib>Turner, Beverely L</creatorcontrib><creatorcontrib>Lovell, Mark A</creatorcontrib><creatorcontrib>Cooper, Michael R</creatorcontrib><creatorcontrib>Lescallett, Jennifer</creatorcontrib><creatorcontrib>Jones, Susan M</creatorcontrib><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><jtitle>Cancer genetics and cytogenetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Miesfeldt, Susan</au><au>Turner, Beverely L</au><au>Lovell, Mark A</au><au>Cooper, Michael R</au><au>Lescallett, Jennifer</au><au>Jones, Susan M</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>A novel BRCA1 mutation in an identical twin pair with similar clinical histories</atitle><jtitle>Cancer genetics and cytogenetics</jtitle><addtitle>Cancer Genet Cytogenet</addtitle><date>1998</date><risdate>1998</risdate><volume>100</volume><issue>1</issue><spage>43</spage><epage>48</epage><pages>43-48</pages><issn>0165-4608</issn><eissn>1873-4456</eissn><coden>CGCYDF</coden><abstract>Factors affecting the penetrance and expression of BRCA1 are not understood. Breast cancer risk and ovarian cancer risk, in general, are known to be associated with non-Mendelian factors. However, whether and how these various factors influence tumor development in BRCA1 mutation carriers is not known. Here we report the breast and ovarian cancer syndrome in an identical twin pair. These female identical twins had remarkably similar clinical histories. Both twins developed histologically similar ovarian cancer in their mid-fifties. One twin was diagnosed with stage III disease and died of refractory metastatic disease. The other twin was diagnosed with stage I disease but ultimately died of recurrent disease. Neither twin developed breast or colon cancer. The twins have both similarities and differences in terms of nongenetic cancer-related risk factors. Results of BRCA1 analysis of DNA from both twins revealed a novel mutation, 2711delA, which resulted in a premature termination at codon 892. 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| ispartof | Cancer genetics and cytogenetics, 1998, Vol.100 (1), p.43-48 |
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| language | eng |
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| source | MEDLINE; Access via ScienceDirect (Elsevier) |
| subjects | Biological and medical sciences Birth control Breast Neoplasms - genetics Diseases in Twins Female Genes, BRCA1 Gynecology. Andrology. Obstetrics Humans Medical sciences Middle Aged Mutation Other methods of contraception. Sterilization Ovarian Neoplasms - genetics Twins, Monozygotic |
| title | A novel BRCA1 mutation in an identical twin pair with similar clinical histories |
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