Translational advances regarding hereditary breast cancer syndromes
Approximately 5–10% of breast cancers may be inheritable, up to 90% of which are due to mutations in BRCA1 and BRCA2. A substantial minority are caused by non‐BRCA mutations, such as TP53, PTEN, STK11, CHEK2, ATM, BRIP1, and PALB2 mutations. This review highlights translational research advances wit...
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| Veröffentlicht in: | Journal of surgical oncology 2012-04, Vol.105 (5), p.444-451 |
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| container_title | Journal of surgical oncology |
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| creator | Gage, M. Wattendorf, D. Henry, L.R. |
| description | Approximately 5–10% of breast cancers may be inheritable, up to 90% of which are due to mutations in BRCA1 and BRCA2. A substantial minority are caused by non‐BRCA mutations, such as TP53, PTEN, STK11, CHEK2, ATM, BRIP1, and PALB2 mutations. This review highlights translational research advances with regard to the development of probabilistic models for hereditary breast cancer syndromes, the identification of specific genetic mutations responsible for these syndromes, as well as their testing and interpretations. J. Surg. Oncol. 2012; 105:444–451. © 2012 Wiley Periodicals, Inc. |
| doi_str_mv | 10.1002/jso.21856 |
| format | Article |
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Oncol. 2012; 105:444–451. © 2012 Wiley Periodicals, Inc.</description><identifier>ISSN: 0022-4790</identifier><identifier>EISSN: 1096-9098</identifier><identifier>DOI: 10.1002/jso.21856</identifier><identifier>PMID: 22441895</identifier><language>eng</language><publisher>Hoboken: Wiley Subscription Services, Inc., A Wiley Company</publisher><subject>Ataxia Telangiectasia - genetics ; Ataxia Telangiectasia Mutated Proteins ; BRCA1 Protein - genetics ; BRCA2 Protein - genetics ; breast cancer ; Breast Neoplasms - genetics ; Cell Cycle Proteins - genetics ; Checkpoint Kinase 2 ; DNA-Binding Proteins - genetics ; familial breast cancer ; Fanconi Anemia Complementation Group N Protein ; Fanconi Anemia Complementation Group Proteins ; Female ; Genetic Predisposition to Disease ; Genetic Testing ; Hamartoma Syndrome, Multiple - genetics ; Hereditary Breast and Ovarian Cancer Syndrome - genetics ; hereditary breast cancer ; Humans ; Li-Fraumeni Syndrome - genetics ; Mutation ; Neoplastic Syndromes, Hereditary - genetics ; Nuclear Proteins - genetics ; Peutz-Jeghers Syndrome - genetics ; Protein-Serine-Threonine Kinases - genetics ; PTEN Phosphohydrolase - genetics ; RNA Helicases - genetics ; Translational Medical Research - trends ; Tumor Suppressor Protein p53 - genetics ; Tumor Suppressor Proteins - genetics</subject><ispartof>Journal of surgical oncology, 2012-04, Vol.105 (5), p.444-451</ispartof><rights>Copyright © 2012 Wiley Periodicals, Inc.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c4286-7564bf4ebd7afe38df430f63627d369080d6e54f843e6cd4bf3ecd14fc458f273</citedby><cites>FETCH-LOGICAL-c4286-7564bf4ebd7afe38df430f63627d369080d6e54f843e6cd4bf3ecd14fc458f273</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://onlinelibrary.wiley.com/doi/pdf/10.1002%2Fjso.21856$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1002%2Fjso.21856$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>315,781,785,1418,27926,27927,45576,45577</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/22441895$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Gage, M.</creatorcontrib><creatorcontrib>Wattendorf, D.</creatorcontrib><creatorcontrib>Henry, L.R.</creatorcontrib><title>Translational advances regarding hereditary breast cancer syndromes</title><title>Journal of surgical oncology</title><addtitle>J. Surg. Oncol</addtitle><description>Approximately 5–10% of breast cancers may be inheritable, up to 90% of which are due to mutations in BRCA1 and BRCA2. A substantial minority are caused by non‐BRCA mutations, such as TP53, PTEN, STK11, CHEK2, ATM, BRIP1, and PALB2 mutations. This review highlights translational research advances with regard to the development of probabilistic models for hereditary breast cancer syndromes, the identification of specific genetic mutations responsible for these syndromes, as well as their testing and interpretations. J. Surg. Oncol. 2012; 105:444–451. © 2012 Wiley Periodicals, Inc.</description><subject>Ataxia Telangiectasia - genetics</subject><subject>Ataxia Telangiectasia Mutated Proteins</subject><subject>BRCA1 Protein - genetics</subject><subject>BRCA2 Protein - genetics</subject><subject>breast cancer</subject><subject>Breast Neoplasms - genetics</subject><subject>Cell Cycle Proteins - genetics</subject><subject>Checkpoint Kinase 2</subject><subject>DNA-Binding Proteins - genetics</subject><subject>familial breast cancer</subject><subject>Fanconi Anemia Complementation Group N Protein</subject><subject>Fanconi Anemia Complementation Group Proteins</subject><subject>Female</subject><subject>Genetic Predisposition to Disease</subject><subject>Genetic Testing</subject><subject>Hamartoma Syndrome, Multiple - genetics</subject><subject>Hereditary Breast and Ovarian Cancer Syndrome - genetics</subject><subject>hereditary breast cancer</subject><subject>Humans</subject><subject>Li-Fraumeni Syndrome - genetics</subject><subject>Mutation</subject><subject>Neoplastic Syndromes, Hereditary - genetics</subject><subject>Nuclear Proteins - genetics</subject><subject>Peutz-Jeghers Syndrome - genetics</subject><subject>Protein-Serine-Threonine Kinases - genetics</subject><subject>PTEN Phosphohydrolase - genetics</subject><subject>RNA Helicases - genetics</subject><subject>Translational Medical Research - trends</subject><subject>Tumor Suppressor Protein p53 - genetics</subject><subject>Tumor Suppressor Proteins - genetics</subject><issn>0022-4790</issn><issn>1096-9098</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2012</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp1kE1PAjEQQBujEUQP_gGzN-Nhodt2u-3RoKIGwQSMx6Zsp7i4H9guKv_eRcCbpznMm5fMQ-g8wt0IY9Jb-KpLIhHzA9SOsOShxFIconazIyFLJG6hE-8XGGMpOTtGLUIYi4SM26g_dbr0ua6zqtR5oM2nLlPwgYO5diYr58EbODBZrd06mDnQvg7SDeICvy6Nqwrwp-jI6tzD2W520Mvd7bR_Hw7Hg4f-9TBMGRE8TGLOZpbBzCTaAhXGMootp5wkhnKJBTYcYmYFo8BT07AUUhMxm7JYWJLQDrrcepeu-liBr1WR-RTyXJdQrbySTAghZYIb8mpLpq7y3oFVS5cVzQsqwmqTTDXJ1G-yhr3YWVezAswfuW_UAL0t8JXlsP7fpB4n470y3F5kvobvvwvt3hVPaBKr19FATabP5OaJj5SkPyEAhbQ</recordid><startdate>20120401</startdate><enddate>20120401</enddate><creator>Gage, M.</creator><creator>Wattendorf, D.</creator><creator>Henry, L.R.</creator><general>Wiley Subscription Services, Inc., A Wiley Company</general><scope>BSCLL</scope><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>7X8</scope></search><sort><creationdate>20120401</creationdate><title>Translational advances regarding hereditary breast cancer syndromes</title><author>Gage, M. ; Wattendorf, D. ; Henry, L.R.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c4286-7564bf4ebd7afe38df430f63627d369080d6e54f843e6cd4bf3ecd14fc458f273</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2012</creationdate><topic>Ataxia Telangiectasia - genetics</topic><topic>Ataxia Telangiectasia Mutated Proteins</topic><topic>BRCA1 Protein - genetics</topic><topic>BRCA2 Protein - genetics</topic><topic>breast cancer</topic><topic>Breast Neoplasms - genetics</topic><topic>Cell Cycle Proteins - genetics</topic><topic>Checkpoint Kinase 2</topic><topic>DNA-Binding Proteins - genetics</topic><topic>familial breast cancer</topic><topic>Fanconi Anemia Complementation Group N Protein</topic><topic>Fanconi Anemia Complementation Group Proteins</topic><topic>Female</topic><topic>Genetic Predisposition to Disease</topic><topic>Genetic Testing</topic><topic>Hamartoma Syndrome, Multiple - genetics</topic><topic>Hereditary Breast and Ovarian Cancer Syndrome - genetics</topic><topic>hereditary breast cancer</topic><topic>Humans</topic><topic>Li-Fraumeni Syndrome - genetics</topic><topic>Mutation</topic><topic>Neoplastic Syndromes, Hereditary - genetics</topic><topic>Nuclear Proteins - genetics</topic><topic>Peutz-Jeghers Syndrome - genetics</topic><topic>Protein-Serine-Threonine Kinases - genetics</topic><topic>PTEN Phosphohydrolase - genetics</topic><topic>RNA Helicases - genetics</topic><topic>Translational Medical Research - trends</topic><topic>Tumor Suppressor Protein p53 - genetics</topic><topic>Tumor Suppressor Proteins - genetics</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Gage, M.</creatorcontrib><creatorcontrib>Wattendorf, D.</creatorcontrib><creatorcontrib>Henry, L.R.</creatorcontrib><collection>Istex</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>Journal of surgical oncology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Gage, M.</au><au>Wattendorf, D.</au><au>Henry, L.R.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Translational advances regarding hereditary breast cancer syndromes</atitle><jtitle>Journal of surgical oncology</jtitle><addtitle>J. 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| subjects | Ataxia Telangiectasia - genetics Ataxia Telangiectasia Mutated Proteins BRCA1 Protein - genetics BRCA2 Protein - genetics breast cancer Breast Neoplasms - genetics Cell Cycle Proteins - genetics Checkpoint Kinase 2 DNA-Binding Proteins - genetics familial breast cancer Fanconi Anemia Complementation Group N Protein Fanconi Anemia Complementation Group Proteins Female Genetic Predisposition to Disease Genetic Testing Hamartoma Syndrome, Multiple - genetics Hereditary Breast and Ovarian Cancer Syndrome - genetics hereditary breast cancer Humans Li-Fraumeni Syndrome - genetics Mutation Neoplastic Syndromes, Hereditary - genetics Nuclear Proteins - genetics Peutz-Jeghers Syndrome - genetics Protein-Serine-Threonine Kinases - genetics PTEN Phosphohydrolase - genetics RNA Helicases - genetics Translational Medical Research - trends Tumor Suppressor Protein p53 - genetics Tumor Suppressor Proteins - genetics |
| title | Translational advances regarding hereditary breast cancer syndromes |
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