BRCA1 and BRCA2 germline mutations in Korean breast cancer patients at high risk of carrying mutations
Abstract We analyzed the mutation spectrum of BRCA1 and BRCA2 genes in 354 Korean breast cancer patients. Overall, 40 patients carried 25 distinct BRCA1/2 mutations including 12 novel mutations. Seven district mutations were found in multiple unrelated patients, with the BRCA2 c.7480C>T mutation...
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| Veröffentlicht in: | Cancer letters 2007-01, Vol.245 (1), p.90-95 |
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| creator | Ahn, Sei Hyun Son, Byung Ho Yoon, Kyung-Sik Noh, Dong-Young Han, Wonshik Kim, Sung-Won Lee, Eun Sook Park, Hai-Lin Hong, Young Joon Choi, Jae Jin Moon, Seo Yun Kim, Mi Jeong Kim, Kye Hyun Kwak, Beom Seok Cho, Dae-Yeon |
| description | Abstract We analyzed the mutation spectrum of BRCA1 and BRCA2 genes in 354 Korean breast cancer patients. Overall, 40 patients carried 25 distinct BRCA1/2 mutations including 12 novel mutations. Seven district mutations were found in multiple unrelated patients, with the BRCA2 c.7480C>T mutation detected in eight unrelated patients, accounting for 50% of the mutations detected in BRCA2. The large number (25/40, 62.5%) of recurrent mutations suggests the possibility of developing a simple screening test for these mutations. The frequency of mutations was related to the number and kinds of risk factors, varying from 10.4 to 25% in the five major risk factor groups. The frequency of BRCA mutations in patients with two or more risk factors was markedly higher than that in patients with one risk factor. |
| doi_str_mv | 10.1016/j.canlet.2005.12.031 |
| format | Article |
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Overall, 40 patients carried 25 distinct BRCA1/2 mutations including 12 novel mutations. Seven district mutations were found in multiple unrelated patients, with the BRCA2 c.7480C>T mutation detected in eight unrelated patients, accounting for 50% of the mutations detected in BRCA2. The large number (25/40, 62.5%) of recurrent mutations suggests the possibility of developing a simple screening test for these mutations. The frequency of mutations was related to the number and kinds of risk factors, varying from 10.4 to 25% in the five major risk factor groups. The frequency of BRCA mutations in patients with two or more risk factors was markedly higher than that in patients with one risk factor.</description><identifier>ISSN: 0304-3835</identifier><identifier>EISSN: 1872-7980</identifier><identifier>DOI: 10.1016/j.canlet.2005.12.031</identifier><identifier>PMID: 16455195</identifier><language>eng</language><publisher>Ireland: Elsevier Ireland Ltd</publisher><subject>BRCA1 ; BRCA1 Protein - genetics ; BRCA2 ; BRCA2 Protein - genetics ; Breast cancer ; Breast Neoplasms - genetics ; Cohort Studies ; Deoxyribonucleic acid ; DNA ; DNA Mutational Analysis - methods ; Female ; Gene Frequency ; Genomes ; Germ-Line Mutation ; Hematology, Oncology and Palliative Medicine ; Heterozygote ; Humans ; Korea ; Korean ; Mutation ; Mutation analysis ; Open Reading Frames ; Ovarian cancer ; Risk Factors</subject><ispartof>Cancer letters, 2007-01, Vol.245 (1), p.90-95</ispartof><rights>Elsevier Ireland Ltd</rights><rights>2006 Elsevier Ireland Ltd</rights><rights>Copyright Elsevier Limited Jan 8, 2007</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c474t-45034121dba1b3128d71513917943ac0551bb5933764c88069a7f7ac5ed113813</citedby><cites>FETCH-LOGICAL-c474t-45034121dba1b3128d71513917943ac0551bb5933764c88069a7f7ac5ed113813</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://www.sciencedirect.com/science/article/pii/S0304383505011110$$EHTML$$P50$$Gelsevier$$H</linktohtml><link.rule.ids>314,776,780,3537,27901,27902,65306</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/16455195$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Ahn, Sei Hyun</creatorcontrib><creatorcontrib>Son, Byung Ho</creatorcontrib><creatorcontrib>Yoon, Kyung-Sik</creatorcontrib><creatorcontrib>Noh, Dong-Young</creatorcontrib><creatorcontrib>Han, Wonshik</creatorcontrib><creatorcontrib>Kim, Sung-Won</creatorcontrib><creatorcontrib>Lee, Eun Sook</creatorcontrib><creatorcontrib>Park, Hai-Lin</creatorcontrib><creatorcontrib>Hong, Young Joon</creatorcontrib><creatorcontrib>Choi, Jae Jin</creatorcontrib><creatorcontrib>Moon, Seo Yun</creatorcontrib><creatorcontrib>Kim, Mi Jeong</creatorcontrib><creatorcontrib>Kim, Kye Hyun</creatorcontrib><creatorcontrib>Kwak, Beom Seok</creatorcontrib><creatorcontrib>Cho, Dae-Yeon</creatorcontrib><title>BRCA1 and BRCA2 germline mutations in Korean breast cancer patients at high risk of carrying mutations</title><title>Cancer letters</title><addtitle>Cancer Lett</addtitle><description>Abstract We analyzed the mutation spectrum of BRCA1 and BRCA2 genes in 354 Korean breast cancer patients. Overall, 40 patients carried 25 distinct BRCA1/2 mutations including 12 novel mutations. Seven district mutations were found in multiple unrelated patients, with the BRCA2 c.7480C>T mutation detected in eight unrelated patients, accounting for 50% of the mutations detected in BRCA2. The large number (25/40, 62.5%) of recurrent mutations suggests the possibility of developing a simple screening test for these mutations. The frequency of mutations was related to the number and kinds of risk factors, varying from 10.4 to 25% in the five major risk factor groups. The frequency of BRCA mutations in patients with two or more risk factors was markedly higher than that in patients with one risk factor.</description><subject>BRCA1</subject><subject>BRCA1 Protein - genetics</subject><subject>BRCA2</subject><subject>BRCA2 Protein - genetics</subject><subject>Breast cancer</subject><subject>Breast Neoplasms - genetics</subject><subject>Cohort Studies</subject><subject>Deoxyribonucleic acid</subject><subject>DNA</subject><subject>DNA Mutational Analysis - methods</subject><subject>Female</subject><subject>Gene Frequency</subject><subject>Genomes</subject><subject>Germ-Line Mutation</subject><subject>Hematology, Oncology and Palliative Medicine</subject><subject>Heterozygote</subject><subject>Humans</subject><subject>Korea</subject><subject>Korean</subject><subject>Mutation</subject><subject>Mutation analysis</subject><subject>Open Reading Frames</subject><subject>Ovarian cancer</subject><subject>Risk Factors</subject><issn>0304-3835</issn><issn>1872-7980</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2007</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkl2L3CAUhqW0dKfb_oNShELvknqiRnNT2A79oguFflyLMSezziZmqklh_n0NMzCwN-uFCuc57_GcV0JeAyuBQf1-XzobBpzLijFZQlUyDk_IBrSqCtVo9pRsGGei4JrLK_IipT3LoFDyObmCWkgJjdyQ_uPP7Q1QGzq63iq6wzgOPiAdl9nOfgqJ-kC_TxFtoG3e00xzYYeRHnIcw5yonemd393R6NM9nfocj_How-6i8ZI86-2Q8NX5vCZ_Pn_6vf1a3P748m17c1s4ocRcCMm4gAq61kLLodKdAgm8AdUIbh3Lj25b2XCuauG0ZnVjVa-sk9gBcA38mrw76R7i9HfBNJvRJ4fDYANOSzK15kpqLh4F83CgUY3M4NsH4H5aYshNGJBMciWE5pkSJ8rFKaWIvTlEP9p4NMDMapfZm5NdZrXLQGWyXTntzVl8aUfsLklnfzLw4QRgHto_j9Ekl2fusPMR3Wy6yT9W4aGAy-56Z4d7PGK69GJSTjC_1i-z_hgmGeTF-H9sSLmT</recordid><startdate>20070108</startdate><enddate>20070108</enddate><creator>Ahn, Sei Hyun</creator><creator>Son, Byung Ho</creator><creator>Yoon, Kyung-Sik</creator><creator>Noh, Dong-Young</creator><creator>Han, Wonshik</creator><creator>Kim, Sung-Won</creator><creator>Lee, Eun Sook</creator><creator>Park, Hai-Lin</creator><creator>Hong, Young Joon</creator><creator>Choi, Jae Jin</creator><creator>Moon, Seo Yun</creator><creator>Kim, Mi Jeong</creator><creator>Kim, Kye Hyun</creator><creator>Kwak, Beom Seok</creator><creator>Cho, Dae-Yeon</creator><general>Elsevier Ireland Ltd</general><general>Elsevier Limited</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7TO</scope><scope>7U9</scope><scope>H94</scope><scope>K9.</scope><scope>NAPCQ</scope><scope>8FD</scope><scope>FR3</scope><scope>P64</scope><scope>RC3</scope><scope>7X8</scope></search><sort><creationdate>20070108</creationdate><title>BRCA1 and BRCA2 germline mutations in Korean breast cancer patients at high risk of carrying mutations</title><author>Ahn, Sei Hyun ; Son, Byung Ho ; Yoon, Kyung-Sik ; Noh, Dong-Young ; Han, Wonshik ; Kim, Sung-Won ; Lee, Eun Sook ; Park, Hai-Lin ; Hong, Young Joon ; Choi, Jae Jin ; Moon, Seo Yun ; Kim, Mi Jeong ; Kim, Kye Hyun ; Kwak, Beom Seok ; Cho, Dae-Yeon</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c474t-45034121dba1b3128d71513917943ac0551bb5933764c88069a7f7ac5ed113813</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2007</creationdate><topic>BRCA1</topic><topic>BRCA1 Protein - genetics</topic><topic>BRCA2</topic><topic>BRCA2 Protein - genetics</topic><topic>Breast cancer</topic><topic>Breast Neoplasms - genetics</topic><topic>Cohort Studies</topic><topic>Deoxyribonucleic acid</topic><topic>DNA</topic><topic>DNA Mutational Analysis - methods</topic><topic>Female</topic><topic>Gene Frequency</topic><topic>Genomes</topic><topic>Germ-Line Mutation</topic><topic>Hematology, Oncology and Palliative Medicine</topic><topic>Heterozygote</topic><topic>Humans</topic><topic>Korea</topic><topic>Korean</topic><topic>Mutation</topic><topic>Mutation analysis</topic><topic>Open Reading Frames</topic><topic>Ovarian cancer</topic><topic>Risk Factors</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Ahn, Sei Hyun</creatorcontrib><creatorcontrib>Son, Byung Ho</creatorcontrib><creatorcontrib>Yoon, Kyung-Sik</creatorcontrib><creatorcontrib>Noh, Dong-Young</creatorcontrib><creatorcontrib>Han, Wonshik</creatorcontrib><creatorcontrib>Kim, Sung-Won</creatorcontrib><creatorcontrib>Lee, Eun Sook</creatorcontrib><creatorcontrib>Park, Hai-Lin</creatorcontrib><creatorcontrib>Hong, Young Joon</creatorcontrib><creatorcontrib>Choi, Jae Jin</creatorcontrib><creatorcontrib>Moon, Seo Yun</creatorcontrib><creatorcontrib>Kim, Mi Jeong</creatorcontrib><creatorcontrib>Kim, Kye Hyun</creatorcontrib><creatorcontrib>Kwak, Beom Seok</creatorcontrib><creatorcontrib>Cho, Dae-Yeon</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Oncogenes and Growth Factors Abstracts</collection><collection>Virology and AIDS Abstracts</collection><collection>AIDS and Cancer Research Abstracts</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Nursing & Allied Health Premium</collection><collection>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><jtitle>Cancer letters</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Ahn, Sei Hyun</au><au>Son, Byung Ho</au><au>Yoon, Kyung-Sik</au><au>Noh, Dong-Young</au><au>Han, Wonshik</au><au>Kim, Sung-Won</au><au>Lee, Eun Sook</au><au>Park, Hai-Lin</au><au>Hong, Young Joon</au><au>Choi, Jae Jin</au><au>Moon, Seo Yun</au><au>Kim, Mi Jeong</au><au>Kim, Kye Hyun</au><au>Kwak, Beom Seok</au><au>Cho, Dae-Yeon</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>BRCA1 and BRCA2 germline mutations in Korean breast cancer patients at high risk of carrying mutations</atitle><jtitle>Cancer letters</jtitle><addtitle>Cancer Lett</addtitle><date>2007-01-08</date><risdate>2007</risdate><volume>245</volume><issue>1</issue><spage>90</spage><epage>95</epage><pages>90-95</pages><issn>0304-3835</issn><eissn>1872-7980</eissn><abstract>Abstract We analyzed the mutation spectrum of BRCA1 and BRCA2 genes in 354 Korean breast cancer patients. Overall, 40 patients carried 25 distinct BRCA1/2 mutations including 12 novel mutations. Seven district mutations were found in multiple unrelated patients, with the BRCA2 c.7480C>T mutation detected in eight unrelated patients, accounting for 50% of the mutations detected in BRCA2. The large number (25/40, 62.5%) of recurrent mutations suggests the possibility of developing a simple screening test for these mutations. The frequency of mutations was related to the number and kinds of risk factors, varying from 10.4 to 25% in the five major risk factor groups. The frequency of BRCA mutations in patients with two or more risk factors was markedly higher than that in patients with one risk factor.</abstract><cop>Ireland</cop><pub>Elsevier Ireland Ltd</pub><pmid>16455195</pmid><doi>10.1016/j.canlet.2005.12.031</doi><tpages>6</tpages></addata></record> |
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| ispartof | Cancer letters, 2007-01, Vol.245 (1), p.90-95 |
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| source | MEDLINE; Elsevier ScienceDirect Journals |
| subjects | BRCA1 BRCA1 Protein - genetics BRCA2 BRCA2 Protein - genetics Breast cancer Breast Neoplasms - genetics Cohort Studies Deoxyribonucleic acid DNA DNA Mutational Analysis - methods Female Gene Frequency Genomes Germ-Line Mutation Hematology, Oncology and Palliative Medicine Heterozygote Humans Korea Korean Mutation Mutation analysis Open Reading Frames Ovarian cancer Risk Factors |
| title | BRCA1 and BRCA2 germline mutations in Korean breast cancer patients at high risk of carrying mutations |
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