BRCA1 and BRCA2 - breast cancer susceptibility genes

Hofmann, Wera; Schlag, Peter M.

doi:10.1007/s004320000140

Cited by 35 publications

(22 citation statements)

References 37 publications

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“…Together, mutations in BRCA1 and BRCA2 account for the majority of families with hereditary susceptibility to breast and ovarian cancer (Hall et al, 1990;Hofmann and Schlag, 2000;Paakkonen et al, 2001). Carriers of the BRCA gene mutations are heterozygous (one normal copy and one mutated copy) within the germ line.…”

Section: Identification Of the Brca Genesmentioning

confidence: 99%

Roles of BRCA1 and BRCA2 in homologous recombination, DNA replication fidelity and the cellular response to ionizing radiation

2003

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Inheritance of one defective copy of either of the two breast cancer susceptibility genes, BRCA1 and BRCA2, predisposes individuals to breast and ovarian cancers. Current progress in determining the function of these genes suggests that they participate in a common pathway to facilitate orderly homologous recombination and thereby maintain genomic integrity. As a consequence of this defect in homologous recombination, tumors that arise in BRCA carriers are likely to be more sensitive to ionizing radiation. This review summarizes recent investigations about the nature of the defect in DNA repair, and highlights the unanswered questions about the tumor suppressor paradox of BRCA genes. The unsolved mystery is the other genetic changes that must occur to turn a BRCA-deficient cell from a nonviable cell into a tumor cell capable of endless growth.

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Section: Identification Of the Brca Genesmentioning

confidence: 99%

Roles of BRCA1 and BRCA2 in homologous recombination, DNA replication fidelity and the cellular response to ionizing radiation

2003

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“…Breast cancer, like other tumor types, is developed as a result of cumulative genetic and epigenetic changes. Although the majority of inherited breast carcinomas caused by germline mutations in the BRCA1 and BRCA2 tumor suppressor genes (Miki et al, 1994;Wooster and Stratton, 1995;Hofmann and Schlag, 2000), the involvement of these genes in sporadic cancers is still uncertain (Yao and Polyak, 2004).Sporadic breast cancers result from a serial multi step accumulation of acquired mutations in somatic genes, without any germ line mutations (Kenemans et al, 2004).…”

Section: Discussionmentioning

confidence: 99%

Expression of EMSY, a Novel BRCA2-link Protein, is Associated with Lymph Node Metastasis and Increased Tumor Size in Breast Carcinomas

Madjd

Akbari²,

Zarnani³

et al. 2014

Asian Pacific Journal of Cancer Prevention

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“…Moreover, one mutant RBI allele is inherited and the second allele is lost somatically in tumors in patients with hereditary retinoblastoma, whereas both alleles are lost somatically in sporadic retinoblastomas, as predicted [Knudson, 1996]. Many other hereditary tumors, including those associated with Li-Praumeni syndrome [Evans and Lozano, 1997], hereditary breast and ovarian cancer syndrome [Hofmann and Schlag, 2000], hereditary adenomatous polyposis [Aaltonen, 2000] and neurofibromatosis 1 [Parada, 2000] have been shown to involve a similar "2-hit" mechanism. Functional or actual loss of both alleles of these and other tumor supressor genes is now known to be an important pathogenic mechanism in most neoplasms [Fearon, 2001].…”

Section: Introductionmentioning

confidence: 99%

Statistical Methods for Analysis of Neurofibromatosis Clinical Data

Joe¹

2002

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Public reporting burden for this collection of information is estimated to average 1 hour per response, including the time for reviewing instructions, searching existing data sources gathering and maintaining the data needed, and completing and reviewing this collection of information. Send comments regarding this burden estimate or any other aspect of this collection of information' including suggestions for reducing this burden to Washington Headquarters Services, Directorate for Infonrafion Operations and Reports, 1215 Jefferson Davis Highway, Suite 1204. Ariington VA 22202-4302 and to the Offirp nf Management and Budget, Paperworl< Reduction Project (0704-0188), Washington, DC 20503 AGENCY USE ONLY (Leave blank) 2. REPORT DATE August 2002 TITLE AND SUBTITLE Statistical Methods for Analysis of Neurofibromatosis Clinical Data REPORT TYPE AND DATES COVEREDAnnual (1 Aug 01 -31 Jul 02) AUTHOR(S)Harry Joe, Ph.D. PERFORMING ORGANIZATION NAME(S) AND ADDRESS(ES)The University of British Columbia Vancouver, British Columbia, Canada E-MAIL:harry @stat.ubc.ca VST 1Z3 SPONSORING / MONITORING AGENCY NAME(S) AND ADDRESS(ES)U ABSTRACT ('Maximum 200 Words)The large phenotypic variability of NFl and NF2 complicates clinical management, confounds analysis of clinical treatment trials, limits the prognostic value of genetic counselling and adds substantially to the burden of the disease. The goals of this project are to devise new statistical methods to find patterns and relationships within the phenotypes and genotypes of people with NF, and to effectively model tumour formation in these disorders. In this way, we hope to be able to provide methods to better predict phenotype, enhance the effectiveness of genetic counselling and clinical screening, and aid in analysis of clinical trials' results.This project describes research in statistical methods that would be usefiil for statistical modelling and analysis of clinical data from NFl and NF2 subjects. The statistical methods are classified into the areas: (a) estimation of familial correlation for different types of data, (b) assessment of multi-hit mutation models for incidence of tumours.Many of the statistical methods to be developed are either new or partly new and require ftirther research for computer software implementation. (B) To develop methods to elaborate on the standard two-hit model of tumour formation, taking into account additional pathogenic factors and allelic differences for tumours in NFl and NF2. SUBJECT TERMS Research AccomplishmentsThe research accomplishments associated with each objective from the statement of work are summarized below. Most of the progress in the past year, in the accepted papers and continuing PhD thesis work, has been in this objective. A summary of the statistical aspects of relevant accepted papers is given, followed by a report of newer statistical methods that are being developed for ftiture use when the databases are larger.In Baser et al AJHG (2002), a study was done of risk factors for mortality in people with neurofibroma...

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BRCA1 and BRCA2 - breast cancer susceptibility genes

Cited by 35 publications

References 37 publications

Roles of BRCA1 and BRCA2 in homologous recombination, DNA replication fidelity and the cellular response to ionizing radiation

Roles of BRCA1 and BRCA2 in homologous recombination, DNA replication fidelity and the cellular response to ionizing radiation

Expression of EMSY, a Novel BRCA2-link Protein, is Associated with Lymph Node Metastasis and Increased Tumor Size in Breast Carcinomas

Statistical Methods for Analysis of Neurofibromatosis Clinical Data

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