The relationship between BRCA-associated breast cancer and age factors: an analysis of the Japanese HBOC consortium database
BRCA1/2 pathogenic variant prevalence in Japanese breast cancer is unclear. Here, we analyzed BRCA1/2 pathogenic variant prevalence with a particular focus on age factors, using the Japanese HBOC consortium database. All registered subjects were Japanese individuals who underwent BRCA1/2 genetic tes...
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Veröffentlicht in: | Journal of human genetics 2021-03, Vol.66 (3), p.307-314 |
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creator | Okano, Maiko Nomizu, Tadashi Tachibana, Kazunoshin Nagatsuka, Miki Matsuzaki, Masami Katagata, Naoto Ohtake, Toru Yokoyama, Shiro Arai, Masami Nakamura, Seigo |
description | BRCA1/2 pathogenic variant prevalence in Japanese breast cancer is unclear. Here, we analyzed BRCA1/2 pathogenic variant prevalence with a particular focus on age factors, using the Japanese HBOC consortium database. All registered subjects were Japanese individuals who underwent BRCA1/2 genetic testing from January 1996 to July 2017 according to the Japanese HBOC consortium database. Cases were extracted and analyzed for each evaluation item. Overall BRCA1 and BRCA2 pathogenic variant prevalence was 11.2% and 9.0% in the cohort of 2366 proband patients, respectively. The age at onset of breast cancer for patients with BRCA1/2 pathogenic variants was significantly lower than that for patients without a BRCA1/2 pathogenic variant. In both BRCA1/2 patients, ages at onset were not statistically significantly different between two subtype groups (ER-positive vs. TNBC). We analyzed the BRCA1/2 pathogenic variant prevalence among age groups in patients with no family history of breast or ovarian cancer. In the TNBC group, the rate of genetic variants was more frequent among younger patients. Our results demonstrated that early breast cancer onset is associated with a BRCA1/2 pathogenic variant in the Japanese population. Younger TNBC patients were more likely to have a BRCA1/2 pathogenic variant irrespective of a family history of breast or ovarian cancer. |
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Here, we analyzed BRCA1/2 pathogenic variant prevalence with a particular focus on age factors, using the Japanese HBOC consortium database. All registered subjects were Japanese individuals who underwent BRCA1/2 genetic testing from January 1996 to July 2017 according to the Japanese HBOC consortium database. Cases were extracted and analyzed for each evaluation item. Overall BRCA1 and BRCA2 pathogenic variant prevalence was 11.2% and 9.0% in the cohort of 2366 proband patients, respectively. The age at onset of breast cancer for patients with BRCA1/2 pathogenic variants was significantly lower than that for patients without a BRCA1/2 pathogenic variant. In both BRCA1/2 patients, ages at onset were not statistically significantly different between two subtype groups (ER-positive vs. TNBC). We analyzed the BRCA1/2 pathogenic variant prevalence among age groups in patients with no family history of breast or ovarian cancer. In the TNBC group, the rate of genetic variants was more frequent among younger patients. Our results demonstrated that early breast cancer onset is associated with a BRCA1/2 pathogenic variant in the Japanese population. Younger TNBC patients were more likely to have a BRCA1/2 pathogenic variant irrespective of a family history of breast or ovarian cancer.</description><identifier>ISSN: 1434-5161</identifier><identifier>EISSN: 1435-232X</identifier><identifier>DOI: 10.1038/s10038-020-00849-y</identifier><identifier>PMID: 33046835</identifier><language>eng</language><publisher>England: Nature Publishing Group</publisher><subject>Age ; BRCA1 protein ; BRCA2 protein ; Breast cancer ; Consortia ; Family medical history ; Genetic diversity ; Genetic screening ; Ovarian cancer</subject><ispartof>Journal of human genetics, 2021-03, Vol.66 (3), p.307-314</ispartof><rights>The Author(s), under exclusive licence to The Japan Society of Human Genetics 2020.</rights><rights>The Author(s), under exclusive licence to The Japan Society of Human Genetics 2020</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c520t-fa99b78b3cf6e1afc65cd7602d0d07b77064939abcab4cb17b969f5f2f2485073</citedby><cites>FETCH-LOGICAL-c520t-fa99b78b3cf6e1afc65cd7602d0d07b77064939abcab4cb17b969f5f2f2485073</cites><orcidid>0000-0003-1118-8494</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>230,314,777,781,882,27905,27906</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/33046835$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Okano, Maiko</creatorcontrib><creatorcontrib>Nomizu, Tadashi</creatorcontrib><creatorcontrib>Tachibana, Kazunoshin</creatorcontrib><creatorcontrib>Nagatsuka, Miki</creatorcontrib><creatorcontrib>Matsuzaki, Masami</creatorcontrib><creatorcontrib>Katagata, Naoto</creatorcontrib><creatorcontrib>Ohtake, Toru</creatorcontrib><creatorcontrib>Yokoyama, Shiro</creatorcontrib><creatorcontrib>Arai, Masami</creatorcontrib><creatorcontrib>Nakamura, Seigo</creatorcontrib><title>The relationship between BRCA-associated breast cancer and age factors: an analysis of the Japanese HBOC consortium database</title><title>Journal of human genetics</title><addtitle>J Hum Genet</addtitle><description>BRCA1/2 pathogenic variant prevalence in Japanese breast cancer is unclear. Here, we analyzed BRCA1/2 pathogenic variant prevalence with a particular focus on age factors, using the Japanese HBOC consortium database. All registered subjects were Japanese individuals who underwent BRCA1/2 genetic testing from January 1996 to July 2017 according to the Japanese HBOC consortium database. Cases were extracted and analyzed for each evaluation item. Overall BRCA1 and BRCA2 pathogenic variant prevalence was 11.2% and 9.0% in the cohort of 2366 proband patients, respectively. The age at onset of breast cancer for patients with BRCA1/2 pathogenic variants was significantly lower than that for patients without a BRCA1/2 pathogenic variant. In both BRCA1/2 patients, ages at onset were not statistically significantly different between two subtype groups (ER-positive vs. TNBC). We analyzed the BRCA1/2 pathogenic variant prevalence among age groups in patients with no family history of breast or ovarian cancer. In the TNBC group, the rate of genetic variants was more frequent among younger patients. Our results demonstrated that early breast cancer onset is associated with a BRCA1/2 pathogenic variant in the Japanese population. Younger TNBC patients were more likely to have a BRCA1/2 pathogenic variant irrespective of a family history of breast or ovarian cancer.</description><subject>Age</subject><subject>BRCA1 protein</subject><subject>BRCA2 protein</subject><subject>Breast cancer</subject><subject>Consortia</subject><subject>Family medical history</subject><subject>Genetic diversity</subject><subject>Genetic screening</subject><subject>Ovarian cancer</subject><issn>1434-5161</issn><issn>1435-232X</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2021</creationdate><recordtype>article</recordtype><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>AZQEC</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><sourceid>DWQXO</sourceid><sourceid>GNUQQ</sourceid><recordid>eNpdkd9rFDEQxxdRbK3-Az5IwBdfVvM7uz4I7aFWKRSkgm9hkp30tuxtziSrHPjHm-vVosLADMlnvszMt2meM_qaUdG9yYzW1FJOW0o72be7B80xk0K1XPBvD29r2Sqm2VHzJOcbWnFu-OPmSAgqdSfUcfPrao0k4QRljHNej1visPxEnMnZl9VpCzlHP0LBgbiEkAvxMHtMBOaBwDWSAL7ElN_Whxow7fKYSQykVNnPsIUZM5Lzs8sV8VU_pjIuGzJAAQcZnzaPAkwZn93lk-brh_dXq_P24vLjp9XpResVp6UN0PfOdE74oJFB8Fr5wWjKBzpQ44yhWvaiB-fBSe-Ycb3ugwo8cNkpasRJ8-6gu13cBgePc0kw2W0aN5B2NsJo__2Zx7W9jj-s6eoF2V7g1Z1Ait8XzMVuxuxxmup-ccmWS0W17oXhFX35H3oTl1Qvs6c6LlSnpKgUP1A-xZwThvthGLV7c-3BXFvNtbfm2l1tevH3Gvctf9wUvwHDXqHc</recordid><startdate>20210301</startdate><enddate>20210301</enddate><creator>Okano, Maiko</creator><creator>Nomizu, Tadashi</creator><creator>Tachibana, Kazunoshin</creator><creator>Nagatsuka, Miki</creator><creator>Matsuzaki, Masami</creator><creator>Katagata, Naoto</creator><creator>Ohtake, Toru</creator><creator>Yokoyama, Shiro</creator><creator>Arai, Masami</creator><creator>Nakamura, Seigo</creator><general>Nature Publishing Group</general><general>Springer Singapore</general><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>3V.</scope><scope>7X7</scope><scope>7XB</scope><scope>88E</scope><scope>8FD</scope><scope>8FE</scope><scope>8FH</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>AZQEC</scope><scope>BBNVY</scope><scope>BENPR</scope><scope>BHPHI</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>FR3</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>HCIFZ</scope><scope>K9.</scope><scope>LK8</scope><scope>M0S</scope><scope>M1P</scope><scope>M7P</scope><scope>P64</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>RC3</scope><scope>7X8</scope><scope>5PM</scope><orcidid>https://orcid.org/0000-0003-1118-8494</orcidid></search><sort><creationdate>20210301</creationdate><title>The relationship between BRCA-associated breast cancer and age factors: an analysis of the Japanese HBOC consortium database</title><author>Okano, Maiko ; Nomizu, Tadashi ; Tachibana, Kazunoshin ; Nagatsuka, Miki ; Matsuzaki, Masami ; Katagata, Naoto ; Ohtake, Toru ; Yokoyama, Shiro ; Arai, Masami ; Nakamura, Seigo</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c520t-fa99b78b3cf6e1afc65cd7602d0d07b77064939abcab4cb17b969f5f2f2485073</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2021</creationdate><topic>Age</topic><topic>BRCA1 protein</topic><topic>BRCA2 protein</topic><topic>Breast cancer</topic><topic>Consortia</topic><topic>Family medical history</topic><topic>Genetic diversity</topic><topic>Genetic screening</topic><topic>Ovarian cancer</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Okano, Maiko</creatorcontrib><creatorcontrib>Nomizu, Tadashi</creatorcontrib><creatorcontrib>Tachibana, Kazunoshin</creatorcontrib><creatorcontrib>Nagatsuka, Miki</creatorcontrib><creatorcontrib>Matsuzaki, Masami</creatorcontrib><creatorcontrib>Katagata, Naoto</creatorcontrib><creatorcontrib>Ohtake, Toru</creatorcontrib><creatorcontrib>Yokoyama, Shiro</creatorcontrib><creatorcontrib>Arai, Masami</creatorcontrib><creatorcontrib>Nakamura, Seigo</creatorcontrib><collection>PubMed</collection><collection>CrossRef</collection><collection>ProQuest Central (Corporate)</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Medical Database (Alumni Edition)</collection><collection>Technology Research Database</collection><collection>ProQuest SciTech Collection</collection><collection>ProQuest Natural Science Collection</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>ProQuest Central (Alumni Edition)</collection><collection>ProQuest Central UK/Ireland</collection><collection>ProQuest Central Essentials</collection><collection>Biological Science Collection</collection><collection>ProQuest Central</collection><collection>Natural Science Collection</collection><collection>ProQuest One Community College</collection><collection>ProQuest Central Korea</collection><collection>Engineering Research Database</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Central Student</collection><collection>SciTech Premium Collection</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>ProQuest Biological Science Collection</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Medical Database</collection><collection>Biological Science Database</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>ProQuest Central China</collection><collection>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>Journal of human genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Okano, Maiko</au><au>Nomizu, Tadashi</au><au>Tachibana, Kazunoshin</au><au>Nagatsuka, Miki</au><au>Matsuzaki, Masami</au><au>Katagata, Naoto</au><au>Ohtake, Toru</au><au>Yokoyama, Shiro</au><au>Arai, Masami</au><au>Nakamura, Seigo</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>The relationship between BRCA-associated breast cancer and age factors: an analysis of the Japanese HBOC consortium database</atitle><jtitle>Journal of human genetics</jtitle><addtitle>J Hum Genet</addtitle><date>2021-03-01</date><risdate>2021</risdate><volume>66</volume><issue>3</issue><spage>307</spage><epage>314</epage><pages>307-314</pages><issn>1434-5161</issn><eissn>1435-232X</eissn><abstract>BRCA1/2 pathogenic variant prevalence in Japanese breast cancer is unclear. Here, we analyzed BRCA1/2 pathogenic variant prevalence with a particular focus on age factors, using the Japanese HBOC consortium database. All registered subjects were Japanese individuals who underwent BRCA1/2 genetic testing from January 1996 to July 2017 according to the Japanese HBOC consortium database. Cases were extracted and analyzed for each evaluation item. Overall BRCA1 and BRCA2 pathogenic variant prevalence was 11.2% and 9.0% in the cohort of 2366 proband patients, respectively. The age at onset of breast cancer for patients with BRCA1/2 pathogenic variants was significantly lower than that for patients without a BRCA1/2 pathogenic variant. In both BRCA1/2 patients, ages at onset were not statistically significantly different between two subtype groups (ER-positive vs. TNBC). We analyzed the BRCA1/2 pathogenic variant prevalence among age groups in patients with no family history of breast or ovarian cancer. In the TNBC group, the rate of genetic variants was more frequent among younger patients. Our results demonstrated that early breast cancer onset is associated with a BRCA1/2 pathogenic variant in the Japanese population. Younger TNBC patients were more likely to have a BRCA1/2 pathogenic variant irrespective of a family history of breast or ovarian cancer.</abstract><cop>England</cop><pub>Nature Publishing Group</pub><pmid>33046835</pmid><doi>10.1038/s10038-020-00849-y</doi><tpages>8</tpages><orcidid>https://orcid.org/0000-0003-1118-8494</orcidid><oa>free_for_read</oa></addata></record> |
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subjects | Age BRCA1 protein BRCA2 protein Breast cancer Consortia Family medical history Genetic diversity Genetic screening Ovarian cancer |
title | The relationship between BRCA-associated breast cancer and age factors: an analysis of the Japanese HBOC consortium database |
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