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
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TLDR
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.Abstract:
Loss of heterozygosity data from familial tumors suggest that BRCA1, a gene that confers susceptibility to ovarian and early-onset breast cancer, encodes a tumor suppressor. The BRCA1 region is also subject to allelic loss in sporadic breast and ovarian cancers, an indication that BRCA1 mutations may occur somatically in these tumors. The BRCA1 coding region was examined for mutations in primary breast and ovarian tumors that show allele loss at the BRCA1 locus. Mutations were detected in 3 of 32 breast and 1 of 12 ovarian carcinomas; all four mutations were germline alterations and occurred in early-onset cancers. These 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.read more
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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
A census of human cancer genes
P. Andrew Futreal,Lachlan J. M. Coin,Mhairi Marshall,Thomas A. Down,Tim Hubbard,Richard Wooster,Nazneen Rahman,Michael R. Stratton +7 more
TL;DR: A 'census' of cancer genes is conducted that indicates that mutations in more than 1% of genes contribute to human cancer.
Journal ArticleDOI
ABC of breast diseases. Breast cancer--epidemiology, risk factors and genetics.
TL;DR: Studies of migrants from Japan to Hawaii show that the rates of breast cancer in migrants assume the rate in the host country within one or two generations, indicating that environmental factors are of greater importance than genetic factors.
Journal ArticleDOI
Hallmarks of 'BRCAness' in sporadic cancers
TL;DR: There are properties that define 'BRCAness' — that is, traits that some sporadic cancers share with those occurring in either BRCA1- or BRCa2-mutation carriers, which might have important implications for the clinical management of these cancers.
Journal ArticleDOI
BASC, a super complex of BRCA1-associated proteins involved in the recognition and repair of aberrant DNA structures
TL;DR: The results suggest that BRCA1 may function as a coordinator of multiple activities required for maintenance of genomic integrity during the process of DNA replication and point to a central role for BRC a1 in DNA repair.
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
Risks of cancer in BRCA1-mutation carriers
TL;DR: In this paper, the risks of breast and ovarian cancer from the occurrence of second cancers in individuals with breast cancer, and examined the risk of other cancers in BRCA1 carriers.
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.
Journal ArticleDOI
Somatic mutations of the APC gene in colorectal tumors: mutation cluster region in the APC gene
Yasuo Mori,Hiroki Nagse,Hiroshi Ando,Akira Horii,Shigetoshi Ichii,Shuichi Nakatsuru,Takahisa Aoki,Yoshio Miki,Takesada Mori,Yusuke Nakamura +9 more
TL;DR: The results strongly suggest that somatic mutations of the APC gene are associated with development of a great majority of colorectal tumors.
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