Journal ArticleDOI
Common origins of BRCA1 mutations in Canadian breast and ovarian cancer families
Jacques Simard,Patricia N. Tonin,Francine Durocher,Kenneth Morgan,Johanna M. Rommens,Sebastien Gingras,Chantal Samson,J.-F. Leblanc,Carole Bélanger,F. Dion,Qingyun Liu,Mark H. Skolnick,Mark H. Skolnick,David E. Goldgar,Donna M Shattuck-Eidens,Fernand Labrie,Steven A. Narod +16 more
TLDR
This article identified BRCA1 mutations in 12 of 30 (40%) Canadian families with breast and/or ovarian cancer, including six of the eight families (75%) that contained two cases of early-onset breast cancer.Abstract:
Women who carry mutations in the BRCA1 gene on chromosome 17q have an 85% lifetime risk of breast cancer, and a 60% risk of ovarian cancer. We have identified BRCA1 mutations in 12 of 30 (40%) Canadian families with breast and/or ovarian cancer, including six of the eight families (75%) that contained two cases of early-onset breast cancer and two cases of ovarian cancer. Six frameshift mutations account for all 12 mutant alleles, including nucleotide insertions (two mutations) and deletions (four mutations). Four independent families carried the same 1 basepair (bp) insertion mutation in codon 1755 and four other families shared a 2 bp deletion mutation in codons 22-23. These families were not known to be related, but haplotype analysis suggests that the carriers of each of these mutations have common ancestors.read more
Citations
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Journal ArticleDOI
Association of BRCA1 with Rad51 in Mitotic and Meiotic Cells
Ralph Scully,Junjie Chen,Annemieke W. Plug,Yonghong Xiao,David R. Weaver,Jean Feunteun,Terry Ashley,David M. Livingston +7 more
TL;DR: Findings suggest a functional interaction between BRCA1 and Rad51 in the meiotic and mitotic cell cycles, which, in turn, suggests a role for BRC a1 in the control of recombination and of genome integrity.
Journal ArticleDOI
A census of human RNA-binding proteins.
TL;DR: This work presents a census of 1,542 manually curated RBPs that are analysed for their interactions with different classes of RNA, their evolutionary conservation, their abundance and their tissue-specific expression, a critical step towards the comprehensive characterization of proteins involved in human RNA metabolism.
Journal ArticleDOI
Cancer Incidence in BRCA1 Mutation Carriers
TL;DR: In carriers of BRCA1 mutations, the overall increased risk of cancer at sites other than breast and ovary is small and is observed in women but generally not in men.
Journal ArticleDOI
BRCA1 and BRCA2 : 1994 and beyond
TL;DR: The discovery of the first gene associated with hereditary breast cancer, BRCA1, was anticipated to greatly increase the understanding of both hereditary and sporadic forms of breast cancers, and to lead to therapeutic and preventive breakthroughs.
Journal ArticleDOI
Identification of a RING protein that can interact in vivo with the BRCA1 gene product.
Leeju C. Wu,Zhuo Wei Wang,Julia Tsou Tsan,Monique A. Spillman,Anne Phung,Xie L. Xu,Meng-Chun W. Yang,Larn-Yuan Hwang,Anne M. Bowcock,Richard Baer +9 more
TL;DR: This BRCA1–associated RING domain (BARD1) protein contains an N–terminal RING motif, three tandem ankyrin repeats, and a C-terminal sequence with significant homology to the phylogenetically conserved BRCT domains that lie near the C terminus of BRCa1.
References
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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
Linkage of early-onset familial breast cancer to chromosome 17q21
TL;DR: Ch Chromosome 17q21 appears to be the locale of a gene for inherited susceptibility to breast cancer in families with early-onset disease, and genetic analysis yields a lod score of 5.98 for linkage of breast cancer susceptibility to D17S74 in early-ONSet families and negative lod scores in familiesWith late-onsets disease.
Journal ArticleDOI
Localization of a breast cancer susceptibility gene, BRCA2, to chromosome 13q12-13
Richard Wooster,Susan L. Neuhausen,Jonathan Mangion,Yvette Quirk,D Ford,N. Collins,K. Nguyen,Sheila Seal,T.D. Tran,D. Averill,P Fields,Gill Marshall,Steven A. Narod,Gilbert M. Lenoir,Henry T. Lynch,Jean Feunteun,Peter Devilee,Cees J. Cornelisse,Fred H. Menko,Peter A. Daly,Wilma Ormiston,Ross McManus,Carole Pye,Cathryn M. Lewis,Lisa A. Cannon-Albright,Julian Peto,Bruce A.J. Ponder,Mark H. Skolnick,Douglas F. Easton,David E. Goldgar,Michael R. Stratton +30 more
TL;DR: This analysis localized a second breast cancer susceptibility locus, BRCA2, to a 6-centimorgan interval on chromosome 13q12-13, which preliminary evidence suggests suggests confers a high risk of breast cancer but does not confer a substantially elevated risk of ovarian cancer.
Journal ArticleDOI
BRCA1 mutations in primary breast and ovarian carcinomas
P. Andrew Futreal,Qingyun Liu,Donna M Shattuck-Eidens,Charles Cochran,Keith D Harshman,Sean V. Tavtigian,L. Michelle Bennett,Astrid Haugen-Strano,Jeff Swensen,Yoshio Miki,Ken Eddington,Melody McClure,Cheryl Frye,Jane Weaver-Feldhaus,Wei Ding,Zahra Gholami,Peter Söderkvist,Lori A. Terry,Suresh C. Jhanwar,Andrew Berchuck,J. Dirk Iglehart,Jeffrey R. Marks,Dennis G. Ballinger,J. Cari Barrett,Mark H. Skolnick,Mark H. Skolnick,Alexander Kamb,Roger W. Wiseman +27 more
TL;DR: Results suggest that mutation of BRCA1 may not be critical in the development of the majority of breast and ovarian cancers that arise in the absence of a mutant germline allele.
Journal Article
Genetic linkage analysis in familial breast and ovarian cancer: results from 214 families. The Breast Cancer Linkage Consortium.
TL;DR: The results suggest that a gene(s) on chromosome 17q accounts for the majority of families in which both early-onset breast cancer and ovarian cancer occur but that other genes predisposing to breast cancer exist.
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