Molecular and clinical characterization of an in frame deletion of uncertain clinical significance in the BRCA2 gene
In this study, we analyzed a “variant of uncertain significance” (VUS) located in exon 23 of the BRCA2 gene exhibited by six members of five distinct families with hereditary breast cancer (BC). The variant was identified by DNA sequencing, and cDNA analysis revealed its co-expression with wild-type...
Gespeichert in:
| Hauptverfasser: | , , , , , , , , , , , , , , , , , , |
|---|---|
| Dokumenttyp: | Article (Journal) |
| Sprache: | Englisch |
| Veröffentlicht: |
8 January 2012
|
| In: |
Breast cancer research and treatment
Year: 2012, Jahrgang: 133, Heft: 2, Pages: 725-734 |
| ISSN: | 1573-7217 |
| DOI: | 10.1007/s10549-011-1917-0 |
| Online-Zugang: | Verlag, Volltext: http://dx.doi.org/10.1007/s10549-011-1917-0 Verlag, Volltext: https://link.springer.com/article/10.1007/s10549-011-1917-0 
|
| Verfasserangaben: | Michelle G. Rath, Farnoosh Fathali-Zadeh, Anne Langheinz, Sandrine Tchatchou, Theda Voigtländer, Jörg Heil, Michael Golatta, Sarah Schott, Teresa Drasseck, Anne Behnecke, Anna-Lena Burgemeister, Christina Evers, Peter Bugert, Hans Junkermann, Andreas Schneeweiss, Claus R. Bartram, Christof Sohn, Christian Sutter, Barbara Burwinkel |
MARC
| LEADER | 00000caa a2200000 c 4500 | ||
|---|---|---|---|
| 001 | 1571752390 | ||
| 003 | DE-627 | ||
| 005 | 20220814105452.0 | ||
| 007 | cr uuu---uuuuu | ||
| 008 | 180405s2012 xx |||||o 00| ||eng c | ||
| 024 | 7 | |a 10.1007/s10549-011-1917-0 |2 doi | |
| 035 | |a (DE-627)1571752390 | ||
| 035 | |a (DE-576)501752390 | ||
| 035 | |a (DE-599)BSZ501752390 | ||
| 035 | |a (OCoLC)1341001687 | ||
| 040 | |a DE-627 |b ger |c DE-627 |e rda | ||
| 041 | |a eng | ||
| 084 | |a 33 |2 sdnb | ||
| 084 | |a 33 |2 sdnb | ||
| 100 | 1 | |a Rath, Michèlle Geneviève |d 1981- |e VerfasserIn |0 (DE-588)1015982379 |0 (DE-627)705465063 |0 (DE-576)351372598 |4 aut | |
| 245 | 1 | 0 | |a Molecular and clinical characterization of an in frame deletion of uncertain clinical significance in the BRCA2 gene |c Michelle G. Rath, Farnoosh Fathali-Zadeh, Anne Langheinz, Sandrine Tchatchou, Theda Voigtländer, Jörg Heil, Michael Golatta, Sarah Schott, Teresa Drasseck, Anne Behnecke, Anna-Lena Burgemeister, Christina Evers, Peter Bugert, Hans Junkermann, Andreas Schneeweiss, Claus R. Bartram, Christof Sohn, Christian Sutter, Barbara Burwinkel |
| 264 | 1 | |c 8 January 2012 | |
| 300 | |a 10 | ||
| 336 | |a Text |b txt |2 rdacontent | ||
| 337 | |a Computermedien |b c |2 rdamedia | ||
| 338 | |a Online-Ressource |b cr |2 rdacarrier | ||
| 500 | |a Gesehen am 05.04.2018 | ||
| 520 | |a In this study, we analyzed a “variant of uncertain significance” (VUS) located in exon 23 of the BRCA2 gene exhibited by six members of five distinct families with hereditary breast cancer (BC). The variant was identified by DNA sequencing, and cDNA analysis revealed its co-expression with wild-type mRNA. We analyzed co-occurrence with other pathological mutations in BRCA1/2, performed a case-control study, looked for evolutionary data and used in-silico analyses to predict its potential clinical significance. Sequencing revealed an in frame deletion of 126 nucleotides in exon 23, leading to a deletion of 42 amino acids (c.9203_9328del126, p.Pro2992_Thr3033del). All of the VUS-carriers suffered from either BC or ovarian/pancreatic cancer. No other definite pathologic mutation of BRCA genes was found in the five families. The identified deletion could not be observed in a control cohort of 2,652 healthy individuals, but in 5 out of 916 (0.5%) tested BC families without a bona fide pathogenic BRCA1/2 mutation (P = 0.0011). According to these results, the in frame deletion c.9203_9328del126 is a rare mutation strongly associated with familial BC. In summary, our investigations indicate that this BRCA2 deletion is pathogenic. | ||
| 700 | 1 | |a Fathali Zadeh, Farnoosh |e VerfasserIn |0 (DE-588)115555860X |0 (DE-627)1017833389 |0 (DE-576)501751696 |4 aut | |
| 700 | 1 | |a Langheinz, Anne |e VerfasserIn |0 (DE-588)1103035649 |0 (DE-627)860642968 |0 (DE-576)47044066X |4 aut | |
| 700 | 1 | |a Tchatchou, Sandrine |d 1979- |e VerfasserIn |0 (DE-588)138116601 |0 (DE-627)696352168 |0 (DE-576)306572095 |4 aut | |
| 700 | 1 | |a Voigtländer, Theda |e VerfasserIn |0 (DE-588)1144653312 |0 (DE-627)1004945035 |0 (DE-576)495461091 |4 aut | |
| 700 | 1 | |a Heil, Jörg |d 1978- |e VerfasserIn |0 (DE-588)132580187 |0 (DE-627)52396160X |0 (DE-576)299238679 |4 aut | |
| 700 | 1 | |a Golatta, Michael |d 1974- |e VerfasserIn |0 (DE-588)132350386 |0 (DE-627)521535727 |0 (DE-576)299091392 |4 aut | |
| 700 | 1 | |a Schott, Sarah |d 1981- |e VerfasserIn |0 (DE-588)133730816 |0 (DE-627)552697281 |0 (DE-576)27460678X |4 aut | |
| 700 | 1 | |a Drasseck, Teresa |d 1981- |e VerfasserIn |0 (DE-588)13750439X |0 (DE-627)69583763X |0 (DE-576)303233648 |4 aut | |
| 700 | 1 | |a Behnecke, Anne |d 1978- |e VerfasserIn |0 (DE-588)129808636 |0 (DE-627)480703353 |0 (DE-576)297846329 |4 aut | |
| 700 | 1 | |a Burgemeister, Anna Lena |d 1981- |e VerfasserIn |0 (DE-588)136054757 |0 (DE-627)574434763 |0 (DE-576)300804148 |4 aut | |
| 700 | 1 | |a Evers, Christina |d 1978- |e VerfasserIn |0 (DE-588)13388340X |0 (DE-627)557870518 |0 (DE-576)300169620 |4 aut | |
| 700 | 1 | |a Bugert, Peter |d 1964- |e VerfasserIn |0 (DE-588)1025332342 |0 (DE-627)722074018 |0 (DE-576)370212169 |4 aut | |
| 700 | 1 | |a Junkermann, Hans |e VerfasserIn |0 (DE-588)1032985402 |0 (DE-627)739849565 |0 (DE-576)380461684 |4 aut | |
| 700 | 1 | |a Schneeweiss, Andreas |d 1961- |e VerfasserIn |0 (DE-588)109972554 |0 (DE-627)632849630 |0 (DE-576)327251859 |4 aut | |
| 700 | 1 | |a Bartram, Claus R. |d 1952- |e VerfasserIn |0 (DE-588)139758518 |0 (DE-627)613089502 |0 (DE-576)312997159 |4 aut | |
| 700 | 1 | |a Sohn, Christof |d 1961- |e VerfasserIn |0 (DE-588)131349287 |0 (DE-627)507642902 |0 (DE-576)298422255 |4 aut | |
| 700 | 1 | |a Sutter, Christian |e VerfasserIn |0 (DE-588)1067529160 |0 (DE-627)818862068 |0 (DE-576)42671993X |4 aut | |
| 700 | 1 | |a Burwinkel, Barbara |d 1969- |e VerfasserIn |0 (DE-588)120685760 |0 (DE-627)704924005 |0 (DE-576)292337752 |4 aut | |
| 773 | 0 | 8 | |i Enthalten in |t Breast cancer research and treatment |d Dordrecht [u.a.] : Springer Science + Business Media B.V., 1981 |g 133(2012), 2, Seite 725-734 |h Online-Ressource |w (DE-627)320433722 |w (DE-600)2004077-5 |w (DE-576)104194162 |x 1573-7217 |7 nnas |a Molecular and clinical characterization of an in frame deletion of uncertain clinical significance in the BRCA2 gene |
| 773 | 1 | 8 | |g volume:133 |g year:2012 |g number:2 |g pages:725-734 |g extent:10 |a Molecular and clinical characterization of an in frame deletion of uncertain clinical significance in the BRCA2 gene |
| 856 | 4 | 0 | |u http://dx.doi.org/10.1007/s10549-011-1917-0 |x Verlag |x Resolving-System |3 Volltext |
| 856 | 4 | 0 | |u https://link.springer.com/article/10.1007/s10549-011-1917-0 |x Verlag |3 Volltext |
| 951 | |a AR | ||
| 992 | |a 20180406 | ||
| 992 | |a 20180405 | ||
| 993 | |a Article | ||
| 993 | |a Article | ||
| 994 | |a 2012 | ||
| 994 | |a 2012 | ||
| 998 | |g 120685760 |a Burwinkel, Barbara |m 120685760:Burwinkel, Barbara |d 910000 |d 910400 |e 910000PB120685760 |e 910400PB120685760 |k 0/910000/ |k 1/910000/910400/ |p 19 |y j | ||
| 998 | |g 1067529160 |a Sutter, Christian |m 1067529160:Sutter, Christian |d 910000 |d 911500 |e 910000PS1067529160 |e 911500PS1067529160 |k 0/910000/ |k 1/910000/911500/ |p 18 | ||
| 998 | |g 131349287 |a Sohn, Christof |m 131349287:Sohn, Christof |d 910000 |d 910400 |e 910000PS131349287 |e 910400PS131349287 |k 0/910000/ |k 1/910000/910400/ |p 17 | ||
| 998 | |g 139758518 |a Bartram, Claus R. |m 139758518:Bartram, Claus R. |d 910000 |d 911500 |e 910000PB139758518 |e 911500PB139758518 |k 0/910000/ |k 1/910000/911500/ |p 16 | ||
| 998 | |g 109972554 |a Schneeweiss, Andreas |m 109972554:Schneeweiss, Andreas |d 910000 |d 910400 |e 910000PS109972554 |e 910400PS109972554 |k 0/910000/ |k 1/910000/910400/ |p 15 | ||
| 998 | |g 1032985402 |a Junkermann, Hans |m 1032985402:Junkermann, Hans |d 910000 |d 910400 |e 910000PJ1032985402 |e 910400PJ1032985402 |k 0/910000/ |k 1/910000/910400/ |p 14 | ||
| 998 | |g 1025332342 |a Bugert, Peter |m 1025332342:Bugert, Peter |d 60000 |d 63500 |e 60000PB1025332342 |e 63500PB1025332342 |k 0/60000/ |k 1/60000/63500/ |p 13 | ||
| 998 | |g 13388340X |a Evers, Christina |m 13388340X:Evers, Christina |d 910000 |d 911500 |e 910000PE13388340X |e 911500PE13388340X |k 0/910000/ |k 1/910000/911500/ |p 12 | ||
| 998 | |g 136054757 |a Burgemeister, Anna Lena |m 136054757:Burgemeister, Anna Lena |d 910000 |d 911500 |e 910000PB136054757 |e 911500PB136054757 |k 0/910000/ |k 1/910000/911500/ |p 11 | ||
| 998 | |g 129808636 |a Behnecke, Anne |m 129808636:Behnecke, Anne |d 910000 |d 911500 |e 910000PB129808636 |e 911500PB129808636 |k 0/910000/ |k 1/910000/911500/ |p 10 | ||
| 998 | |g 13750439X |a Drasseck, Teresa |m 13750439X:Drasseck, Teresa |d 910000 |d 910400 |e 910000PD13750439X |e 910400PD13750439X |k 0/910000/ |k 1/910000/910400/ |p 9 | ||
| 998 | |g 133730816 |a Schott, Sarah |m 133730816:Schott, Sarah |d 910000 |d 910400 |e 910000PS133730816 |e 910400PS133730816 |k 0/910000/ |k 1/910000/910400/ |p 8 | ||
| 998 | |g 132350386 |a Golatta, Michael |m 132350386:Golatta, Michael |d 910000 |d 910400 |e 910000PG132350386 |e 910400PG132350386 |k 0/910000/ |k 1/910000/910400/ |p 7 | ||
| 998 | |g 132580187 |a Heil, Jörg |m 132580187:Heil, Jörg |d 910000 |d 910400 |e 910000PH132580187 |e 910400PH132580187 |k 0/910000/ |k 1/910000/910400/ |p 6 | ||
| 998 | |g 1144653312 |a Voigtländer, Theda |m 1144653312:Voigtländer, Theda |d 910000 |d 911500 |e 910000PV1144653312 |e 911500PV1144653312 |k 0/910000/ |k 1/910000/911500/ |p 5 | ||
| 998 | |g 138116601 |a Tchatchou, Sandrine |m 138116601:Tchatchou, Sandrine |d 910000 |d 910400 |e 910000PT138116601 |e 910400PT138116601 |k 0/910000/ |k 1/910000/910400/ |p 4 | ||
| 998 | |g 1103035649 |a Langheinz, Anne |m 1103035649:Langheinz, Anne |d 910000 |d 910400 |e 910000PL1103035649 |e 910400PL1103035649 |k 0/910000/ |k 1/910000/910400/ |p 3 | ||
| 998 | |g 115555860X |a Fathali Zadeh, Farnoosh |m 115555860X:Fathali Zadeh, Farnoosh |d 910000 |d 911500 |e 910000PF115555860X |e 911500PF115555860X |k 0/910000/ |k 1/910000/911500/ |p 2 | ||
| 998 | |g 1015982379 |a Rath, Michèlle Geneviève |m 1015982379:Rath, Michèlle Geneviève |d 910000 |d 910400 |e 910000PR1015982379 |e 910400PR1015982379 |k 0/910000/ |k 1/910000/910400/ |p 1 |x j | ||
| 999 | |a KXP-PPN1571752390 |e 3005263541 | ||
| 999 | |a KXP-PPN1571752390 |e 3005214613 | ||
| BIB | |a Y | ||
| SER | |a journal | ||
| JSO | |a {"language":["eng"],"person":[{"family":"Rath","display":"Rath, Michèlle Geneviève","role":"aut","given":"Michèlle Geneviève"},{"role":"aut","given":"Farnoosh","family":"Fathali Zadeh","display":"Fathali Zadeh, Farnoosh"},{"display":"Langheinz, Anne","family":"Langheinz","role":"aut","given":"Anne"},{"family":"Tchatchou","display":"Tchatchou, Sandrine","given":"Sandrine","role":"aut"},{"role":"aut","given":"Theda","family":"Voigtländer","display":"Voigtländer, Theda"},{"given":"Jörg","role":"aut","family":"Heil","display":"Heil, Jörg"},{"display":"Golatta, Michael","family":"Golatta","role":"aut","given":"Michael"},{"role":"aut","given":"Sarah","family":"Schott","display":"Schott, Sarah"},{"given":"Teresa","role":"aut","display":"Drasseck, Teresa","family":"Drasseck"},{"display":"Behnecke, Anne","family":"Behnecke","role":"aut","given":"Anne"},{"family":"Burgemeister","display":"Burgemeister, Anna Lena","given":"Anna Lena","role":"aut"},{"display":"Evers, Christina","family":"Evers","role":"aut","given":"Christina"},{"family":"Bugert","display":"Bugert, Peter","role":"aut","given":"Peter"},{"family":"Junkermann","display":"Junkermann, Hans","given":"Hans","role":"aut"},{"given":"Andreas","role":"aut","display":"Schneeweiss, Andreas","family":"Schneeweiss"},{"family":"Bartram","display":"Bartram, Claus R.","given":"Claus R.","role":"aut"},{"family":"Sohn","display":"Sohn, Christof","role":"aut","given":"Christof"},{"given":"Christian","role":"aut","family":"Sutter","display":"Sutter, Christian"},{"role":"aut","given":"Barbara","display":"Burwinkel, Barbara","family":"Burwinkel"}],"id":{"eki":["1571752390"],"doi":["10.1007/s10549-011-1917-0"]},"name":{"displayForm":["Michelle G. Rath, Farnoosh Fathali-Zadeh, Anne Langheinz, Sandrine Tchatchou, Theda Voigtländer, Jörg Heil, Michael Golatta, Sarah Schott, Teresa Drasseck, Anne Behnecke, Anna-Lena Burgemeister, Christina Evers, Peter Bugert, Hans Junkermann, Andreas Schneeweiss, Claus R. Bartram, Christof Sohn, Christian Sutter, Barbara Burwinkel"]},"physDesc":[{"extent":"10 S."}],"recId":"1571752390","relHost":[{"language":["eng"],"part":{"year":"2012","pages":"725-734","text":"133(2012), 2, Seite 725-734","issue":"2","extent":"10","volume":"133"},"title":[{"title_sort":"Breast cancer research and treatment","title":"Breast cancer research and treatment"}],"origin":[{"publisherPlace":"Dordrecht [u.a.] ; Dordrecht [u.a.]","dateIssuedDisp":"1981-","publisher":"Springer Science + Business Media B.V. ; Kluwer","dateIssuedKey":"1981"}],"pubHistory":["1.1981 -"],"note":["Gesehen am 02.12.05","Fortsetzung der Druck-Ausgabe"],"type":{"bibl":"periodical","media":"Online-Ressource"},"disp":"Molecular and clinical characterization of an in frame deletion of uncertain clinical significance in the BRCA2 geneBreast cancer research and treatment","recId":"320433722","physDesc":[{"extent":"Online-Ressource"}],"id":{"zdb":["2004077-5"],"issn":["1573-7217"],"eki":["320433722"]}}],"type":{"media":"Online-Ressource","bibl":"article-journal"},"origin":[{"dateIssuedDisp":"8 January 2012","dateIssuedKey":"2012"}],"note":["Gesehen am 05.04.2018"],"title":[{"title_sort":"Molecular and clinical characterization of an in frame deletion of uncertain clinical significance in the BRCA2 gene","title":"Molecular and clinical characterization of an in frame deletion of uncertain clinical significance in the BRCA2 gene"}]} | ||
| SRT | |a RATHMICHELMOLECULARA8201 | ||