Preliminary molecular evidence associating a novel BRCA1 synonymous variant with hereditary ovarian cancer syndrome
Extensive molecular screening of the BRCA1/2 ( BRCA) genes by massively parallel sequencing (MPS) identified variants of uncertain (or unknown) significance (VUS) and novel variants. We performed a molecular characterization of a novel BRCA1 synonymous variant discovered in a family with hereditary...
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| Veröffentlicht in: | Human genome variation 2018-04, Vol.5 (1), p.2-4, Article 2 |
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| container_title | Human genome variation |
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| creator | Minucci, Angelo Concolino, Paola De Bonis, Maria Costella, Alessandra Paris, Ida Scambia, Giovanni Capoluongo, Ettore |
| description | Extensive molecular screening of the
BRCA1/2
(
BRCA)
genes by massively parallel sequencing (MPS) identified variants of uncertain (or unknown) significance (VUS) and novel variants. We performed a molecular characterization of a novel
BRCA1
synonymous variant discovered in a family with hereditary ovarian cancer (HOC) syndrome. We showed that the
BRCA1 c.5073
A
> T variant might play a pathogenic role in HOC syndrome in this family. |
| doi_str_mv | 10.1038/s41439-018-0003-0 |
| format | Article |
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BRCA1/2
(
BRCA)
genes by massively parallel sequencing (MPS) identified variants of uncertain (or unknown) significance (VUS) and novel variants. We performed a molecular characterization of a novel
BRCA1
synonymous variant discovered in a family with hereditary ovarian cancer (HOC) syndrome. We showed that the
BRCA1 c.5073
A
> T variant might play a pathogenic role in HOC syndrome in this family.</description><identifier>ISSN: 2054-345X</identifier><identifier>EISSN: 2054-345X</identifier><identifier>DOI: 10.1038/s41439-018-0003-0</identifier><identifier>PMID: 29760936</identifier><language>eng</language><publisher>London: Nature Publishing Group UK</publisher><subject>631/337/2019 ; 692/53/2421 ; Biomedical and Life Sciences ; Biomedicine ; Data Report ; Gene Expression ; Gene Function ; Gene Therapy ; Human Genetics ; Molecular Medicine ; Ovarian cancer</subject><ispartof>Human genome variation, 2018-04, Vol.5 (1), p.2-4, Article 2</ispartof><rights>The Author(s) 2018</rights><rights>2018. This work is published under http://creativecommons.org/licenses/by/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c461t-4e37f2d05779c5b07b526135361adfc7c5a7eb9c83da0b14f019b6bf35ce36873</citedby><cites>FETCH-LOGICAL-c461t-4e37f2d05779c5b07b526135361adfc7c5a7eb9c83da0b14f019b6bf35ce36873</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC5938031/pdf/$$EPDF$$P50$$Gpubmedcentral$$Hfree_for_read</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC5938031/$$EHTML$$P50$$Gpubmedcentral$$Hfree_for_read</linktohtml><link.rule.ids>230,314,723,776,780,860,881,27903,27904,41099,42168,51554,53769,53771</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/29760936$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Minucci, Angelo</creatorcontrib><creatorcontrib>Concolino, Paola</creatorcontrib><creatorcontrib>De Bonis, Maria</creatorcontrib><creatorcontrib>Costella, Alessandra</creatorcontrib><creatorcontrib>Paris, Ida</creatorcontrib><creatorcontrib>Scambia, Giovanni</creatorcontrib><creatorcontrib>Capoluongo, Ettore</creatorcontrib><title>Preliminary molecular evidence associating a novel BRCA1 synonymous variant with hereditary ovarian cancer syndrome</title><title>Human genome variation</title><addtitle>Hum Genome Var</addtitle><addtitle>Hum Genome Var</addtitle><description>Extensive molecular screening of the
BRCA1/2
(
BRCA)
genes by massively parallel sequencing (MPS) identified variants of uncertain (or unknown) significance (VUS) and novel variants. We performed a molecular characterization of a novel
BRCA1
synonymous variant discovered in a family with hereditary ovarian cancer (HOC) syndrome. We showed that the
BRCA1 c.5073
A
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BRCA1/2
(
BRCA)
genes by massively parallel sequencing (MPS) identified variants of uncertain (or unknown) significance (VUS) and novel variants. We performed a molecular characterization of a novel
BRCA1
synonymous variant discovered in a family with hereditary ovarian cancer (HOC) syndrome. We showed that the
BRCA1 c.5073
A
> T variant might play a pathogenic role in HOC syndrome in this family.</abstract><cop>London</cop><pub>Nature Publishing Group UK</pub><pmid>29760936</pmid><doi>10.1038/s41439-018-0003-0</doi><tpages>4</tpages><oa>free_for_read</oa></addata></record> |
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| source | DOAJ Directory of Open Access Journals; Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals; Springer Nature OA Free Journals; Nature Free; PubMed Central |
| subjects | 631/337/2019 692/53/2421 Biomedical and Life Sciences Biomedicine Data Report Gene Expression Gene Function Gene Therapy Human Genetics Molecular Medicine Ovarian cancer |
| title | Preliminary molecular evidence associating a novel BRCA1 synonymous variant with hereditary ovarian cancer syndrome |
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