SwePub
Sök i LIBRIS databas

  Utökad sökning

onr:"swepub:oai:lup.lub.lu.se:93a1c597-ebeb-484f-8494-677ad6a72f47"
 

Sökning: onr:"swepub:oai:lup.lub.lu.se:93a1c597-ebeb-484f-8494-677ad6a72f47" > Functional analysis...

LIBRIS Formathandbok  (Information om MARC21)
FältnamnIndikatorerMetadata
00005857naa a2200709 4500
001oai:lup.lub.lu.se:93a1c597-ebeb-484f-8494-677ad6a72f47
003SwePub
008160401s2001 | |||||||||||000 ||eng|
0247 a https://lup.lub.lu.se/record/11201722 URI
0247 a https://doi.org/10.1093/hmg/10.4.3532 DOI
040 a (SwePub)lu
041 a engb eng
042 9 SwePub
072 7a art2 swepub-publicationtype
072 7a ref2 swepub-contenttype
1001 a Vallon-Christersson, Ju Lund University,Lunds universitet,Bröstcancer-genetik,Sektion I,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Breastcancer-genetics,Section I,Department of Clinical Sciences, Lund,Faculty of Medicine4 aut0 (Swepub:lu)onk-jvc
2451 0a Functional analysis of BRCA1 C-terminal missense mutations identified in breast and ovarian cancer families
264 1b Oxford University Press (OUP),c 2001
300 a 8 s.
520 a Germline mutations in the breast and ovarian cancer susceptibility gene BRCA1 are responsible for the majority of cases involving hereditary breast and ovarian cancer. Whereas all truncating mutations are considered as functionally deleterious, most of the missense variants identified to date cannot be readily distinguished as either disease-associated mutations or benign polymorphisms. The C-terminal domain of BRCA1 displays an intrinsic transactivation activity, and mutations linked to disease predisposition have been shown to confer loss of such activity in yeast and mammalian cells. In an attempt to clarify the functional importance of the BRCA1 C-terminus as a transcription activator in cancer predisposition, we have characterized the effect of C-terminal germline variants identified in Scandinavian breast and ovarian cancer families. Missense variants A1669S, C1697R, R1699W, R1699Q, A1708E, S1715R and G1738E and a truncating mutation, W1837X, were characterized using yeast- and mammalian-based transcription assays. In addition, four additional missense variants (V1665M, D1692N, S1715N and D1733G) and one in-frame deletion (V1688del) were included in the study. Our findings demonstrate that transactivation activity may reflect a tumor-suppressing function of BRCA1 and further support the role of BRCA1 missense mutations in disease predisposition. We also report a discrepancy between results from yeast- and mammalian-based assays, indicating that it may not be possible to unambiguously characterize variants with the yeast assay alone. We show that transcription-based assays can aid in the characterization of deleterious mutations in the C-terminal part of BRCA1 and may form the basis of a functional assay.
650 7a MEDICIN OCH HÄLSOVETENSKAPx Medicinska och farmaceutiska grundvetenskaperx Medicinsk genetik0 (SwePub)301072 hsv//swe
650 7a MEDICAL AND HEALTH SCIENCESx Basic Medicinex Medical Genetics0 (SwePub)301072 hsv//eng
653 a Adult
653 a Aged
653 a Aged, 80 and over
653 a Animals
653 a BRCA1 Protein
653 a Breast Neoplasms
653 a Cell Line
653 a Databases, Factual
653 a Dogs
653 a Exons
653 a Female
653 a Genes, BRCA1
653 a Genetic Variation
653 a Humans
653 a Mice
653 a Middle Aged
653 a Mutation, Missense
653 a Ovarian Neoplasms
653 a Pedigree
653 a Promoter Regions, Genetic
653 a Rats
653 a Recombinant Fusion Proteins
653 a Transcriptional Activation
7001 a Cayanan, C4 aut
7001 a Haraldsson, Ku Lund University,Lunds universitet,Bröstcancer-genetik,Sektion I,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Breastcancer-genetics,Section I,Department of Clinical Sciences, Lund,Faculty of Medicine4 aut0 (Swepub:lu)onk-kha
7001 a Loman, Nu Lund University,Lunds universitet,Tumörmikromiljö,Sektion I,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Bröstcancer-genetik,Institutionen för kliniska vetenskaper, Lund,Tumor microenvironment,Section I,Department of Clinical Sciences, Lund,Faculty of Medicine,Breastcancer-genetics,Department of Clinical Sciences, Lund4 aut0 (Swepub:lu)onk-nlo
7001 a Bergthorsson, J T4 aut
7001 a Brøndum-Nielsen, K4 aut
7001 a Gerdes, A M4 aut
7001 a Møller, P4 aut
7001 a Kristoffersson, Uu Lund University,Lunds universitet,Avdelningen för klinisk genetik,Institutionen för laboratoriemedicin,Medicinska fakulteten,Division of Clinical Genetics,Department of Laboratory Medicine,Faculty of Medicine4 aut0 (Swepub:lu)kgen-ukr
7001 a Olsson, Håkanu Lund University,Lunds universitet,Tumörmikromiljö,Sektion I,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Tumor microenvironment,Section I,Department of Clinical Sciences, Lund,Faculty of Medicine4 aut0 (Swepub:lu)onk-hol
7001 a Borg, Åkeu Lund University,Lunds universitet,Bröstcancer-genetik,Sektion I,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Familjär bröstcancer,Forskargrupper vid Lunds universitet,Breastcancer-genetics,Section I,Department of Clinical Sciences, Lund,Faculty of Medicine,Familial Breast Cancer,Lund University Research Groups4 aut0 (Swepub:lu)onk-abo
7001 a Monteiro, A N4 aut
7102 a Bröstcancer-genetikb Sektion I4 org
7730 t Human Molecular Geneticsd : Oxford University Press (OUP)g 10:4, s. 60-353q 10:4<60-353x 0964-6906x 1460-2083
8564 u http://dx.doi.org/10.1093/hmg/10.4.353y FULLTEXT
8564 u https://academic.oup.com/hmg/article-pdf/10/4/353/9464100/dde037.pdf
8564 8u https://lup.lub.lu.se/record/1120172
8564 8u https://doi.org/10.1093/hmg/10.4.353

Hitta via bibliotek

Till lärosätets databas

Kungliga biblioteket hanterar dina personuppgifter i enlighet med EU:s dataskyddsförordning (2018), GDPR. Läs mer om hur det funkar här.
Så här hanterar KB dina uppgifter vid användning av denna tjänst.

 
pil uppåt Stäng

Kopiera och spara länken för att återkomma till aktuell vy