Identification and in silico analysis of functional SNPs of the BRCA1 gene.
TLDR
It is proposed that an nsSNP (rs1800751) could be an important candidate for the breast cancer caused by the BRCA1 gene from a comparison of the stabilizing residues of the native and mutant proteins.About:
This article is published in Genomics.The article was published on 2007-10-01 and is currently open access. It has received 79 citations till now. The article focuses on the topics: Nonsynonymous substitution & Untranslated region.read more
Citations
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Journal ArticleDOI
The BRCA1 c.5434C→G (p.Pro1812Ala) variant induces a deleterious exon 23 skipping by affecting exonic splicing regulatory elements
Pascaline Gaildrat,Sophie Krieger,Jean-Christophe Thery,Audrey Killian,Antoine Rousselin,Pascaline Berthet,Thierry Frebourg,Agnès Hardouin,Alexandra Martins,Mario Tosi +9 more
TL;DR: The classification of BRCA1 c.5434C→G as a pathogenic splicing mutation is argued and results suggest that UVs in highly conserved nucleotide sequences of short exons may be good candidates for detecting functionally relevant splicing regulatory elements.
Journal ArticleDOI
Computational approach to unravel the impact of missense mutations of proteins (D2HGDH and IDH2) causing D-2-hydroxyglutaric aciduria 2
D Thirumal Kumar,L Jerushah Emerald,C. George Priya Doss,P. Sneha,Ramamoorthy Siva,W. Charles E. Jebaraj,Hatem Zayed +6 more
TL;DR: In this study, six mutations in the D2HGDH and IDH2 proteins were studied and results revealed the mutation R140Q to be more destabilizing (higher RMSD values, decrease in compactness and number of intramolecular hydrogen bonds) compared to the mutations R140G of the IDH 2 protein.
Journal ArticleDOI
A yeast recombination assay to characterize human BRCA1 missense variants of unknown pathological significance
TL;DR: Results clearly showed that this genetic system can be useful to discriminate between neutral and deleterious BRCA1 missense variants.
Journal ArticleDOI
Computational and structural investigation of deleterious functional SNPs in breast cancer BRCA2 gene.
R. Rajasekaran,George Priya Doss,C. Sudandiradoss,K. Ramanathan,Purohit Rituraj,Rao Sethumadhavan +5 more
TL;DR: It is proposed that this most deleterious nsSNP with an SNPid rs28897759 is an important candidate for the cause of breast cancer by BRCA2 gene.
Journal ArticleDOI
BRCA2 mutations and triple-negative breast cancer.
TL;DR: Although the study group was small, results point to BRCA2 mutations being important in TNBC.
References
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Journal ArticleDOI
dbSNP: the NCBI database of genetic variation
Stephen T. Sherry,Minghong Ward,Michael Kholodov,Jonathan Baker,Lon Phan,Elizabeth M. Smigielski,Karl Sirotkin +6 more
TL;DR: The dbSNP database is a general catalog of genome variation to address the large-scale sampling designs required by association studies, gene mapping and evolutionary biology, and is integrated with other sources of information at NCBI such as GenBank, PubMed, LocusLink and the Human Genome Project data.
Journal ArticleDOI
A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1
Yoshio Miki,Jeff Swensen,Donna M Shattuck-Eidens,P. Andrew Futreal,Keith D Harshman,Sean V. Tavtigian,Qingyun Liu,Charles Cochran,L. Michelle Bennett,Wei Ding,Russell Bell,Judith Rosenthal,Charles E. Hussey,Thanh Tran,Melody McClure,Cheryl Frye,Tom Hattier,Robert Phelps,Astrid Haugen-Strano,Harold Katcher,Kazuko Yakumo,Zahra Gholami,Daniel Shaffer,Steven Stone,Steven Bayer,Christian Wray,Robert Bogden,Priya Dayananth,John R. Ward,Patricia N. Tonin,Steven A. Narod,Pam K. Bristow,Frank H. Norris,Leah M. Helvering,Paul Morrison,Paul Robert Rosteck,Mei Lai,J. Carl Barrett,Cathryn M. Lewis,Susan L. Neuhausen,Lisa A. Cannon-Albright,David E. Goldgar,Roger W. Wiseman,Alexander Kamb,Mark H. Skolnick +44 more
TL;DR: A strong candidate for the 17q-linked BRCA1 gene, which influences susceptibility to breast and ovarian cancer, has been identified by positional cloning methods.
Journal ArticleDOI
SIFT: predicting amino acid changes that affect protein function
Pauline C. Ng,Steven Henikoff +1 more
TL;DR: SIFT is a program that predicts whether an amino acid substitution affects protein function so that users can prioritize substitutions for further study and can distinguish between functionally neutral and deleterious amino acid changes in mutagenesis studies and on human polymorphisms.
Journal ArticleDOI
Estrogen Resistance Caused by a Mutation in the Estrogen-Receptor Gene in a Man
Eric P. Smith,Jeff Boyd,Graeme R. Frank,Hiroyuki Takahashi,Robert M. Cohen,Bonny Specker,Timothy C. Williams,Dennis B. Lubahn,Kenneth S. Korach +8 more
TL;DR: Disruption of the estrogen receptor in humans need not be lethal and is important for bone maturation and mineralization in men as well as women.
Journal ArticleDOI
Predicting Deleterious Amino Acid Substitutions
Pauline C. Ng,Steven Henikoff +1 more
TL;DR: A tool that uses sequence homology to predict whether a substitution affects protein function is constructed, which may be used to identify plausible disease candidates among the SNPs that cause missense substitutions.
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