Cover Image

Double germline mutations in APC and BRCA2 in an individual with a pancreatic tumor

We report on three brothers affected by pancreatic tumors, all due to different causes, including mutations associated with two different cancer predisposition syndromes in the same individual. In the index patient a germline mutation both in the APC and BRCA2 gene was identified while one affected...

Full description

Saved in:
Bibliographic Details
Main Authors: Göhringer, Caroline (Author) , Sutter, Christian (Author) , Kloor, Matthias (Author) , Gebert, Johannes (Author) , Keller, Monika (Author) , Treiber, Irmgard (Author) , Ganschow, Petra (Author) , Kadmon, Martina (Author) , Moog, Ute (Author)
Format: Article (Journal)
Language:English
Published: 2017
In: Familial cancer
Year: 2016, Volume: 16, Issue: 2, Pages: 303-309
ISSN:1573-7292
DOI:10.1007/s10689-016-9952-y
Online Access:Verlag, Volltext: http://dx.doi.org/10.1007/s10689-016-9952-y
Verlag, Volltext: https://doi.org/10.1007/s10689-016-9952-y
Get full text
Author Notes:Caroline Goehringer, Christian Sutter, Matthias Kloor, Johannes Gebert, Emily P. Slater, Monika Keller, Irmgard Treiber, Petra Ganschow, Martina Kadmon, Ute Moog

MARC

LEADER 00000caa a2200000 c 4500
001 1580770584
003 DE-627
005 20241028121831.0
007 cr uuu---uuuuu
008 180907r20172016xx |||||o 00| ||eng c
024 7 |a 10.1007/s10689-016-9952-y  |2 doi 
035 |a (DE-627)1580770584 
035 |a (DE-576)510770584 
035 |a (DE-599)BSZ510770584 
035 |a (OCoLC)1341018315 
040 |a DE-627  |b ger  |c DE-627  |e rda 
041 |a eng 
084 |a 33  |2 sdnb 
100 1 |a Göhringer, Caroline  |d 1981-  |e VerfasserIn  |0 (DE-588)1023644126  |0 (DE-627)718422244  |0 (DE-576)367201127  |4 aut 
245 1 0 |a Double germline mutations in APC and BRCA2 in an individual with a pancreatic tumor  |c Caroline Goehringer, Christian Sutter, Matthias Kloor, Johannes Gebert, Emily P. Slater, Monika Keller, Irmgard Treiber, Petra Ganschow, Martina Kadmon, Ute Moog 
264 1 |c 2017 
300 |b Illustrationen 
300 |a 7 
336 |a Text  |b txt  |2 rdacontent 
337 |a Computermedien  |b c  |2 rdamedia 
338 |a Online-Ressource  |b cr  |2 rdacarrier 
500 |a Online veröffentlicht: 12. November 2016 
500 |a Gesehen am 28.10.2024 
520 |a We report on three brothers affected by pancreatic tumors, all due to different causes, including mutations associated with two different cancer predisposition syndromes in the same individual. In the index patient a germline mutation both in the APC and BRCA2 gene was identified while one affected brother showed the BRCA2 mutation only and another brother is supposed to have developed pancreatic cancer due to multiple non-genetic risk factors. We outline the impact of a double germline mutation in two tumor predisposition genes in one individual and proven heterogeneity of multiple cases of pancreatic tumors in one family. With the growing implementation of next generation sequence based panel testing for multiple genes involved in tumor predisposition syndromes, relevant variants in two (or more) genes will be found more frequently. This family illustrates the importance of family studies, especially when using gene panel tests. 
534 |c 2016 
650 4 |a APC gene 
650 4 |a BRCA2 gene 
650 4 |a Double germline mutation 
650 4 |a Familial adenomatous polyposis 
650 4 |a Familial pancreatic cancer 
650 4 |a Hereditary breast and ovarian cancer syndrome 
650 4 |a Hereditary pancreatic cancer 
650 4 |a Pancreatic cancer 
650 4 |a Tumor disposition syndrome 
700 1 |a Sutter, Christian  |e VerfasserIn  |0 (DE-588)1067529160  |0 (DE-627)818862068  |0 (DE-576)42671993X  |4 aut 
700 1 |a Kloor, Matthias  |d 1972-  |e VerfasserIn  |0 (DE-588)124552803  |0 (DE-627)363416609  |0 (DE-576)294228616  |4 aut 
700 1 |a Gebert, Johannes  |e VerfasserIn  |0 (DE-588)1033923567  |0 (DE-627)743674731  |0 (DE-576)381600688  |4 aut 
700 1 |a Keller, Monika  |e VerfasserIn  |0 (DE-588)1067877975  |0 (DE-627)819322253  |0 (DE-576)427031575  |4 aut 
700 1 |a Treiber, Irmgard  |d 1964-  |e VerfasserIn  |0 (DE-588)141469706  |0 (DE-627)703986236  |0 (DE-576)324023162  |4 aut 
700 1 |a Ganschow, Petra  |d 1978-  |e VerfasserIn  |0 (DE-588)137649983  |0 (DE-627)695945386  |0 (DE-576)304516651  |4 aut 
700 1 |a Kadmon, Martina  |d 1961-  |e VerfasserIn  |0 (DE-588)115093419  |0 (DE-627)644710055  |0 (DE-576)174135343  |4 aut 
700 1 |a Moog, Ute  |d 1954-  |e VerfasserIn  |0 (DE-588)1054047170  |0 (DE-627)791007480  |0 (DE-576)409968501  |4 aut 
773 0 8 |i Enthalten in  |t Familial cancer  |d Dordrecht [u.a.] : Springer Science + Business Media B.V, 2000  |g 16(2017), 2 vom: Apr., Seite 303-309  |h Online-Ressource  |w (DE-627)320528324  |w (DE-600)2015448-3  |w (DE-576)121465721  |x 1573-7292  |7 nnas  |a Double germline mutations in APC and BRCA2 in an individual with a pancreatic tumor 
773 1 8 |g volume:16  |g year:2017  |g number:2  |g month:04  |g pages:303-309  |g extent:7  |a Double germline mutations in APC and BRCA2 in an individual with a pancreatic tumor 
856 4 0 |u http://dx.doi.org/10.1007/s10689-016-9952-y  |x Verlag  |x Resolving-System  |3 Volltext 
856 4 0 |u https://doi.org/10.1007/s10689-016-9952-y  |x Verlag  |3 Volltext 
951 |a AR 
992 |a 20180907 
993 |a Article 
994 |a 2017 
998 |g 1054047170  |a Moog, Ute  |m 1054047170:Moog, Ute  |d 910000  |d 911500  |e 910000PM1054047170  |e 911500PM1054047170  |k 0/910000/  |k 1/910000/911500/  |p 10  |y j 
998 |g 115093419  |a Kadmon, Martina  |m 115093419:Kadmon, Martina  |p 9 
998 |g 137649983  |a Ganschow, Petra  |m 137649983:Ganschow, Petra  |p 8 
998 |g 141469706  |a Treiber, Irmgard  |m 141469706:Treiber, Irmgard  |d 910000  |d 910200  |e 910000PT141469706  |e 910200PT141469706  |k 0/910000/  |k 1/910000/910200/  |p 7 
998 |g 1067877975  |a Keller, Monika  |m 1067877975:Keller, Monika  |d 910000  |d 910600  |e 910000PK1067877975  |e 910600PK1067877975  |k 0/910000/  |k 1/910000/910600/  |p 6 
998 |g 1033923567  |a Gebert, Johannes  |m 1033923567:Gebert, Johannes  |d 910000  |d 912000  |e 910000PG1033923567  |e 912000PG1033923567  |k 0/910000/  |k 1/910000/912000/  |p 4 
998 |g 124552803  |a Kloor, Matthias  |m 124552803:Kloor, Matthias  |d 910000  |d 912000  |e 910000PK124552803  |e 912000PK124552803  |k 0/910000/  |k 1/910000/912000/  |p 3 
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 2 
998 |g 1023644126  |a Göhringer, Caroline  |m 1023644126:Göhringer, Caroline  |d 910000  |d 911500  |e 910000PG1023644126  |e 911500PG1023644126  |k 0/910000/  |k 1/910000/911500/  |p 1  |x j 
999 |a KXP-PPN1580770584  |e 302494091X 
BIB |a Y 
SER |a journal 
JSO |a {"physDesc":[{"extent":"7 S.","noteIll":"Illustrationen"}],"id":{"doi":["10.1007/s10689-016-9952-y"],"eki":["1580770584"]},"person":[{"role":"aut","given":"Caroline","display":"Göhringer, Caroline","family":"Göhringer"},{"family":"Sutter","role":"aut","given":"Christian","display":"Sutter, Christian"},{"family":"Kloor","given":"Matthias","display":"Kloor, Matthias","role":"aut"},{"family":"Gebert","role":"aut","given":"Johannes","display":"Gebert, Johannes"},{"role":"aut","given":"Monika","display":"Keller, Monika","family":"Keller"},{"family":"Treiber","role":"aut","display":"Treiber, Irmgard","given":"Irmgard"},{"given":"Petra","display":"Ganschow, Petra","role":"aut","family":"Ganschow"},{"display":"Kadmon, Martina","given":"Martina","role":"aut","family":"Kadmon"},{"given":"Ute","display":"Moog, Ute","role":"aut","family":"Moog"}],"title":[{"title":"Double germline mutations in APC and BRCA2 in an individual with a pancreatic tumor","title_sort":"Double germline mutations in APC and BRCA2 in an individual with a pancreatic tumor"}],"language":["eng"],"name":{"displayForm":["Caroline Goehringer, Christian Sutter, Matthias Kloor, Johannes Gebert, Emily P. Slater, Monika Keller, Irmgard Treiber, Petra Ganschow, Martina Kadmon, Ute Moog"]},"type":{"media":"Online-Ressource","bibl":"article-journal"},"relHost":[{"physDesc":[{"extent":"Online-Ressource"}],"disp":"Double germline mutations in APC and BRCA2 in an individual with a pancreatic tumorFamilial cancer","title":[{"title_sort":"Familial cancer","title":"Familial cancer"}],"part":{"issue":"2","volume":"16","extent":"7","text":"16(2017), 2 vom: Apr., Seite 303-309","year":"2017","pages":"303-309"},"type":{"bibl":"periodical","media":"Online-Ressource"},"id":{"issn":["1573-7292"],"eki":["320528324"],"zdb":["2015448-3"]},"language":["eng"],"recId":"320528324","pubHistory":["1.2000 -"],"note":["Gesehen am 02.03.05"],"origin":[{"publisherPlace":"Dordrecht [u.a.] ; Dordrecht [u.a.]","dateIssuedKey":"2000","publisher":"Springer Science + Business Media B.V ; Kluwer","dateIssuedDisp":"2000-"}]}],"recId":"1580770584","note":["Online veröffentlicht: 12. November 2016","Gesehen am 28.10.2024"],"origin":[{"dateIssuedKey":"2017","dateIssuedDisp":"2017"}]} 
SRT |a GOEHRINGERDOUBLEGERM2017 

Similar Items