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References (37)
-
P. Lovelock, A. Spurdle, M. Mok, Daniel Farrugia, S. Lakhani, S. Healey, S. Arnold, D. Buchanan, kConFab investigators, F. Couch, B. Henderson, D. Goldgar, S. Tavtigian, G. Chenevix-Trench, Melissa Brown (2007)
Identification of BRCA1 missense substitutions that confer partial functional activity: potential moderate risk variants?Breast Cancer Research : BCR, 9
-
P. Ng, S. Henikoff (2003)
SIFT: predicting amino acid changes that affect protein functionNucleic acids research, 31 13
-
B. Leegte, A. Hout, Amie Deffenbaugh, Marian Bakker, Inge Mulder, A. Berge, EP Leenders, J. Wesseling, J. Hullu, N. Hoogerbrugge, M. Ligtenberg, A. Ardern-jones, E. Bancroft, A. Salmon, J. Barwell, Ros Eeles, Jan Oosterwijk (2005)
Phenotypic expression of double heterozygosity for BRCA1 and BRCA2 germline mutationsJournal of Medical Genetics, 42
-
A family with heterozygote mutations in BRCA1 and BRCA2 287 -
EB Gomez Garcia, JC Oosterwijk, M Timmermans (2009)
A method to assess the clinical significance of unclassified variants in the BRCA1 and BRCA2 genes based on cancer family historyBreast Cancer Res, 11
-
D. Baralle, M. Baralle (2005)
Splicing in action: assessing disease causing sequence changesJournal of Medical Genetics, 42
-
S. Thorlacius, G. Olafsdóttir, L. Tryggvadottir, S. Neuhausen, J. Jónasson, S. Tavtigian, H. Tulinius, H. Ögmundsdóttir, J. Eyfjörd (1996)
A single BRCA2 mutation in male and female breast cancer families from Iceland with varied cancer phenotypesNature Genetics, 13
-
S. Neuhausen, T. Gilewski, L. Norton, T. Tran, P. McGuire, J. Swensen, H. Hampel, P. Borgen, K. Brown, M. Skolnick, D. Shattuck-Eidens, S. Jhanwar, D. Goldgar, K. Offit (1996)
Recurrent BRCA2 6174delT mutations in Ashkenazi Jewish women affected by breast cancerNature Genetics, 13
-
D. Bell, J. Erban, D. Sgroi, D. Haber (2002)
Selective loss of heterozygosity in multiple breast cancers from a carrier of mutations in both BRCA1 and BRCA2.Cancer research, 62 10
-
E. Friedman, R. Bruchim, A. Kruglikova, S. Risel, E. Levy-Lahad, D. Halle, Elchanan Bar-On, R. Gershoni-baruch, Ephrat Dagan, I. Kepten, Tamar Peretz, I. Lerer, Naomi Wienberg, A. Shushan, D. Abeliovich (1998)
Double heterozygotes for the Ashkenazi founder mutations in BRCA1 and BRCA2 genes.American journal of human genetics, 63 4
-
M. Pensabene, I. Spagnoletti, I. Capuano, C. Condello, S. Pepe, A. Contegiacomo, G. Lombardi, G. Bevilacqua, M. Caligo (2009)
Two mutations of BRCA2 gene at exon and splicing site in a woman who underwent oncogenetic counseling.Annals of oncology : official journal of the European Society for Medical Oncology, 20 5
-
Carles Ferrer-Costa, J. Gelpí, Leire Zamakola, Ivan Parraga, X. Cruz, M. Orozco (2005)
PMUT: a web-based tool for the annotation of pathological mutations on proteinsBioinformatics, 21 14
-
D. Choi, M. Lee, A. Bale, D. Carter, B. Haffty (2004)
Incidence of BRCA1 and BRCA2 mutations in young Korean breast cancer patients.Journal of clinical oncology : official journal of the American Society of Clinical Oncology, 22 9
-
(http://www.research.nhgri.nih.gov/bic/)
http://www.research.nhgri.nih.gov/bic/http://www.research.nhgri.nih.gov/bic/, http://www.research.nhgri.nih.gov/bic/
-
T. Caldés, M. Hoya, A. Tosar, S. Sulleiro, J. Godino, D. Ibañez, M. Martín, P. Pérez-Segura, E. Díaz-Rubio (2002)
A breast cancer family from Spain with germline mutations in both the BRCA1 and BRCA2 genesJournal of Medical Genetics, 39
-
G. Chenevix-Trench, S. Healey, S. Lakhani, P. Waring, M. Cummings, R. Brinkworth, A. Deffenbaugh, L. Burbidge, D. Pruss, T. Judkins, T. Scholl, A. Békéssy, Anna Marsh, P. Lovelock, Ming Wong, A. Tesoriero, H. Renard, M. Southey, J. Hopper, Koulis Yannoukakos, Melissa Brown, D. Easton, S. Tavtigian, D. Goldgar, A. Spurdle (2006)
Genetic and histopathologic evaluation of BRCA1 and BRCA2 DNA sequence variants of unknown clinical significance.Cancer research, 66 4
-
D. Goldgar, D. Easton, A. Deffenbaugh, A. Monteiro, S. Tavtigian, F. Couch (2004)
Integrated evaluation of DNA sequence variants of unknown clinical significance: application to BRCA1 and BRCA2.American journal of human genetics, 75 4
-
T. Hansen, Ane Steffensen, L. Jønson, M. Andersen, B. Ejlertsen, F. Nielsen (2010)
The silent mutation nucleotide 744 G → A, Lys172Lys, in exon 6 of BRCA2 results in exon skippingBreast Cancer Research and Treatment, 119
-
J. Vallon-Christersson, C. Cayanan, Karin Haraldsson, N. Loman, J. Bergthórsson, K. Brøndum‐Nielsen, A. Gerdes, P. Møller, U. Kristoffersson, Hampus Olsson, Å. Borg, Alvaro Monteiro (2001)
Functional analysis of BRCA1 C-terminal missense mutations identified in breast and ovarian cancer families.Human molecular genetics, 10 4
-
M. Reese, F. Eeckman, D. Kulp, D. Haussler (1997)
Improved splice site detection in GenieJournal of computational biology : a journal of computational molecular cell biology, 4 3
-
J. Glover (2005)
Insights into the Molecular Basis of Human Hereditary Breast Cancer from Studies of the BRCA1 BRCT DomainFamilial Cancer, 5
-
Margaret Smith, S. Fawcett, E. Sigalas, Richard Bell, S. Devery, Nikolina Andrieska, I. Winship (2007)
Familial breast cancer: double heterozygosity for BRCA1 and BRCA2 mutations with differing phenotypesFamilial Cancer, 7
-
T. Hansen, B. Ejlertsen, A. Albrechtsen, Eva Bergsten, P. Bjerregaard, T. Hansen, T. Myrhøj, P. Nielsen, V. Timmermans-Wielenga, M. Andersen, L. Jønson, F. Nielsen (2009)
A common Greenlandic Inuit BRCA1 RING domain founder mutationBreast Cancer Research and Treatment, 115
-
V. Abkevich, A. Zharkikh, A. Deffenbaugh, D. Frank, Y. Chen, D. Shattuck, M. Skolnick, A. Gutin, S. Tavtigian (2004)
Analysis of missense variation in human BRCA1 in the context of interspecific sequence variationJournal of Medical Genetics, 41
-
M. Pyne, A. Brothman, B. Ward, D. Pruss, B. Hendrickson, T. Scholl (2000)
The BRCA2 genetic variant IVS7 + 2T → G is a mutationJournal of Human Genetics, 45
-
M. Thomassen, T. Hansen, Å. Borg, Henriette Lianee, F. Wikman, Inge Pedersen, Marie Bisgaard, F. Nielsen, T. Kruse, A. Gerdes (2008)
BRCA1 and BRCA2 mutations in Danish families with hereditary breast and/or ovarian cancerActa Oncologica, 47
-
Julie Clapperton, Isaac Manke, Drew Lowery, T. Ho, L. Haire, M. Yaffe, S. Smerdon (2004)
Structure and mechanism of BRCA1 BRCT domain recognition of phosphorylated BACH1 with implications for cancerNature Structural &Molecular Biology, 11
-
Gene Yeo, C. Burge (2003)
Maximum entropy modeling of short sequence motifs with applications to RNA splicing signalsJournal of computational biology : a journal of computational molecular cell biology, 11 2-3
-
G. Giannini, C. Capalbo, L. Ottini, Amelia Buffone, L. Marchis, E. Margaria, D. Vitolo, E. Ricevuto, Christian Rinaldi, M. Zani, S. Ferraro, P. Marchetti, E. Cortesi, L. Frati, I. Screpanti, A. Gulino (2008)
Clinical classification of BRCA1 DNA missense variants: H1686Q is a novel pathogenic mutation occurring in the ontogenetically invariant THV motif of the N-terminal BRCT domain.Journal of clinical oncology : official journal of the American Society of Clinical Oncology, 26 25
-
V. Ramensky, P. Bork, S. Sunyaev (2002)
Human non-synonymous SNPs: server and survey.Nucleic acids research, 30 17
-
T. Hansen, M. Bisgaard, L. Jønson, A. Albrechtsen, B. Filtenborg-Barnkob, H. Eiberg, B. Ejlertsen, F. Nielsen (2008)
Novel de novo BRCA2 mutation in a patient with a family history of breast cancerBMC Medical Genetics, 9
-
R. Williams, N. Bernstein, Megan Lee, Melissa Rakovszky, D. Cui, R. Green, M. Weinfeld, J. Glover (2005)
Structural basis for phosphorylation-dependent signaling in the DNA-damage response.Biochemistry and cell biology = Biochimie et biologie cellulaire, 83 6
-
T. Frank, A. Deffenbaugh, J. Reid, M. Hulick, B. Ward, B. Lingenfelter, K. Gumpper, T. Scholl, S. Tavtigian, D. Pruss, G. Critchfield (2002)
Clinical characteristics of individuals with germline mutations in BRCA1 and BRCA2: analysis of 10,000 individuals.Journal of clinical oncology : official journal of the American Society of Clinical Oncology, 20 6
-
T. Hansen, L. Jønson, A. Albrechtsen, M. Andersen, B. Ejlertsen, F. Nielsen (2009)
Large BRCA1 and BRCA2 genomic rearrangements in Danish high risk breast-ovarian cancer familiesBreast Cancer Research and Treatment, 115
-
Stefan Hebsgaard, Peter Korning, N. Tolstrup, J. Engelbrecht, P. Rouzé, S. Brunak (1996)
Splice site prediction in Arabidopsis thaliana pre-mRNA by combining local and global sequence information.Nucleic acids research, 24 17
-
E. Garcia, J. Oosterwijk, M. Timmermans, C. Asperen, Frans Hogervorst, N. Hoogerbrugge, R. Oldenburg, S. Verhoef, C. Dommering, M. Ausems, T. Os, Annemarie der, Hout, M. Ligtenberg, A. Ouweland, R. Luijt, J. Wijnen, Johan Gille, Patrick Lindsey, P. Devilee, M. Blok, M. Vreeswijk (2009)
UvA-DARE ( Digital Academic Repository ) A method to assess the clinical significance of unclassified variants in the BRCA 1 and BRCA 2 genes based on cancer family history -
(2001)
Breast cancer genetics: what we know and what we needNature Medicine, 7
- Publisher
- Springer Journals
- Copyright
- Copyright © 2010 by The Author(s)
- Subject
- Biomedicine; Biomedicine general; Epidemiology; Human Genetics ; Cancer Research
- ISSN
- 1389-9600
- eISSN
- 1573-7292
- DOI
- 10.1007/s10689-010-9345-6
- pmid
- 20455026
- Publisher site
- See Article on Publisher Site
Abstract
Mutations in the two breast cancer susceptibility genes BRCA1 and BRCA2 are associated with increased risk of breast and ovarian cancer. Patients with mutations in both genes are rarely reported and often involve Ashkenazi founder mutations. Here we report the first identification of a Danish breast and ovarian cancer family heterozygote for mutations in the BRCA1 and BRCA2 genes. The BRCA1 nucleotide 5215G > A/c.5096G > A mutation results in the missense mutation Arg1699Gln, while the BRCA2 nucleotide 859 + 4A > G/c.631 + 4A > G is novel. Exon trapping experiments and reverse transcriptase (RT)–PCR analysis revealed that the BRCA2 mutation results in skipping of exon 7, thereby introducing a frameshift and a premature stop codon. We therefore classify the mutation as disease causing. Since the BRCA1 Arg1699Gln mutation is also suggested to be disease-causing, we consider this family double heterozygote for BRCA1 and BRCA2 mutations.
Journal
Familial Cancer – Springer Journals
Published: May 9, 2010