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Encyclopedia > BRCA1
Breast cancer type 1 susceptibility protein

Location of the genes BRCA1 and BRCA2 on chromosomes 13 and 17 BRCA Genes-location of BRCA1 and BRCA2 on chromosomes 13 and 17. ...

Symbol(s): BRCA1
Other names: RING finger protein 53, Breast cancer 1 Early Onset, PSCP, RNF53
Genetic data
Locus: Chr. 17 q21-q24
Protein Structure/Function
Protein length: 1863 (Amino Acids)
Molecular Weight: 207732 (Da)
Functions: DNA repair, Tumor suppressor, Transcription regulator
Domains: ZFC3 domain, 2 BRCT domains
Motifs: 2NLS motifs, CC motif
Other
Taxa expressing: Homo sapiens
Cell types: many; ovaries, testis, mammary glands, lymphocyte, prostate, cervix
Subcellular localization: Primary: Nucleus; Secondary: Cytoplasm, Centrosome
Medical/Biotechnological data
Diseases: breast-ovarian cancer (BOC) Mendelian Inheritance in Man (OMIM) 113705
Database Links
Codes: EntrezGene 672, RefSeq NM_007295, UniProt P38398, Mendelian Inheritance in Man (OMIM) 113705

BRCA1 (breast cancer 1, early onset) is a human gene that belongs to a class of genes known as tumor suppressors, which regulate the cell cycle and prevent uncontrolled proliferation. The BRCA1 protein product of the gene is part of the DNA damage detection and repair system. Variation in the gene has been implicated in some cancers. The BRCA1 gene is located on the long (q) arm of chromosome 17 at position 21, from base pair 38,449,843 to base pair 38,530,933. Look up Hugo in Wiktionary, the free dictionary. ... This article is about the general scientific term. ... Short and long arms Chromosome. ... Chromosome 17 is one of the 23 pairs of chromosomes in humans. ... A representation of the 3D structure of myoglobin, showing coloured alpha helices. ... In chemistry, an amino acid is any molecule that contains both amino and carboxylic acid functional groups. ... The unified atomic mass unit (u), or Dalton (Da), is a small unit of mass used to express atomic and molecular masses. ... The structure of part of a DNA double helix Deoxyribonucleic acid, or DNA, is a nucleic acid molecule that contains the genetic instructions used in the development and functioning of all known living organisms. ... A tumor suppressor gene is a gene that reduces the probability that a cell in a multicellular organism will turn into a tumor cell. ... A micrograph of ongoing gene transcription of ribosomal RNA illustrating the growing primary transcripts. ... Within a protein, a structural domain (domain) is an element of overall structure that is self-stabilizing and often folds independently of the rest of the protein chain. ... It has been suggested that Supersecondary structure be merged into this article or section. ... A taxon (plural taxa), or taxonomic unit, is a grouping of organisms (named or unnamed). ... Homo sapiens (Latin: wise man) is the scientific name for the human species. ... There are about 210 distinct human cell types. ... Human female internal reproductive anatomy Ovaries are a part of a female organism that produces eggs. ... Human male anatomy The testicles, known medically as testes (singular testis), are the male generative glands in animals. ... Mammary glands are the organs that, in the female mammal, produce milk for the sustenance of the young. ... A scanning electron microscope (SEM) image of a single human lymphocyte. ... The prostate is a compound tubuloalveolar exocrine gland of the male mammalian reproductive system. ... The cervix (from Latin neck) is the lower, narrow portion of the uterus where it joins with the top end of the vagina. ... HeLa cells stained for DNA with the Blue Hoechst dye. ... It has been suggested that Cytoplast be merged into this article or section. ... The centrosome is the main microtubule organizing center (MTOC) of the cell as well as a regulator of cell-cycle progression. ... The term disease refers to an abnormal condition of an organism that impairs function. ... Ovarian and breast cancer patients in a pedigree chart of a family The term breast-ovarian cancer (BOC) refers to families in which individuals have suffered from breast cancer and ovarian cancer (either one individual suffered from both, or several individuals in the pedigree suffered from one or the other... The Mendelian Inheritance in Man project is a database that catalogues all the known diseases with a genetic component, and - when possible - links them to the relevant genes in the human genome. ... The Entrez logo The Entrez Global Query Cross-Database Search System allows access to databases at the National Center for Biotechnology Information (NCBI) website. ... National Center for Biotechnology Information logo The National Center for Biotechnology Information (NCBI) is part of the United States National Library of Medicine (NLM), a branch of the National Institutes of Health. ... Swiss-Prot is a curated biological database of protein sequences created in 1986 by Amos Bairoch during his PhD and developed by the Swiss Institute of Bioinformatics and the European Bioinformatics Institute. ... The Mendelian Inheritance in Man project is a database that catalogues all the known diseases with a genetic component, and - when possible - links them to the relevant genes in the human genome. ... This article is about modern humans. ... For a non-technical introduction to the topic, see Introduction to Genetics. ... A tumor suppressor gene is a gene that reduces the probability that a cell in a multicellular organism will turn into a tumor cell. ... The cell cycle, or cell-division cycle, is the series of events that take place in a eukaryotic cell leading to its replication. ... Chromosome 17 is one of the 23 pairs of chromosomes in humans. ... Base pairs, of a DNA molecule. ...

Contents

Function and mechanism

The BRCA1 protein is directly involved in the repair of damaged DNA. In the nucleus of many types of normal cells, the BRCA1 protein is thought to interact with RAD51 to mend breaks in DNA, though the details and significance of this interaction is the subject of debate.[1] These breaks can be caused by natural radiation or other exposures, but also occur when chromosomes exchange genetic material in preparation for cell division. The BRCA2 protein, which has a function similar to that of BRCA1, also interacts with the RAD51 protein. By repairing DNA, these three proteins play a role in maintaining the stability of the human genome. A representation of the 3D structure of myoglobin, showing coloured alpha helices. ... The structure of part of a DNA double helix Deoxyribonucleic acid, or DNA, is a nucleic acid molecule that contains the genetic instructions used in the development and functioning of all known living organisms. ... Rad51 is the eukaryotic homolog of the prokaryotic RecA protein. ... Figure 1: A representation of a condensed eukaryotic chromosome, as seen during cell division. ... BRCA2 refers to either a gene (BReast-CAncer susceptibility gene 2, located on human chromosome 13, 13q12-13) or the protein coded for by that gene. ...


Research suggests that both the BRCA1 and BRCA2 proteins regulate the activity of other genes and play a critical role in embryo development. The BRCA1 protein probably interacts with many other proteins, including tumor suppressors and regulators of the cell division cycle.


Mutations

Certain variations of the BRCA1 gene lead to an increased risk for breast cancer. Researchers have identified more than 600 mutations in the BRCA1 gene, many of which are associated with an increased risk of cancer. Breast cancer is cancer of breast tissue. ... It has been suggested that mutant be merged into this article or section. ...


These mutations can be changes in one or a small number of DNA base pairs (the building blocks of DNA). Those mutations can be looked for using PCR and sequencing. Base pairs, of a DNA molecule. ...


In some cases, large segments of DNA are rearranged. Those large segments, called also large rearrangements, can be a deletion or a duplication of one or several exons in the gene. Classical methods for mutations detection(sequencing) are unable to reveal those mutations.[2]. Other methods are proposed : Q-PCR[3], Multiplex Ligation-dependent Probe Amplification (MLPA)[4] , and Quantitative Multiplex PCR of Shorts Fluorescents Fragments (QMPSF)[5] . New methods have been recently proposed : heteroduplex analysis (HDA) by multi-capillary electrophoresis or also dedicated oligonucleotides array based on comparative genomic hybridization (array-CGH)[6] . Quantitative PCR (Q-PCR) is a modification of PCR used to rapidly measure the quantity of PCR product (preferably real-time), thus is an indirect method for quantitatively measuring starting amounts of DNA, cDNA or RNA. This is commonly used for the purpose of determening whether a sequence is present... Multiplex ligation-dependent probe amplification (MLPA) is a variation of the polymerase chain reaction that permits multiple targets to be amplified with only a single primer pair[1]. Each probe consists of a pair of primers that straddle the target site of interest and are subsequently ligated into a complete... Comparative genomic hybridization (CGH) is a molecular-cytogenetic method for the analysis of regional changes in the DNA content of tumor cells. ...


A mutated BRCA1 gene usually makes a protein that does not function properly because it is abnormally short. Researchers believe that the defective BRCA1 protein is unable to help fix mutations that occur in other genes. These defects accumulate and may allow cells to grow and divide uncontrollably to form a tumor. A representation of the 3D structure of myoglobin, showing coloured alpha helices. ...


In addition to breast cancer, mutations in the BRCA1 gene also increase the risk on ovarian, Fallopian tube, prostate and colon cancers. Moreover, precancerous lesions (dysplasia) within the Fallopian tube have been linked to BRCA1 gene mutations. Ovarian cancer is a malignant tumor (a kind of neoplasm) located on an ovary. ... The Fallopian tubes, also known as oviducts, uterine tubes, and salpinges (singular salpinx) are two very fine tubes leading from the ovaries of female mammals into the uterus. ... Prostate cancer is a disease in which cancer develops in the prostate, a gland in the male reproductive system. ... Diagram of the stomach, colon, and rectum Colorectal cancer includes cancerous growths in the colon, rectum and appendix. ... Dysplasia (from Greek, roughly: bad form) is a term used in pathology to refer to an abnormality in maturation of cells within a tissue. ...


See also

BRCA1 gene was discovered in 1994, by studying Mormon families in Utah, and that was done via linkage analysis. BRCA2 refers to either a gene (BReast-CAncer susceptibility gene 2, located on human chromosome 13, 13q12-13) or the protein coded for by that gene. ... Breast cancer is cancer of breast tissue. ... Mary-Claire King (1946- ) is an American human geneticist. ...


References

  1. ^ S.J. Boulton (2006). "Cellular functions of the BRCA tumour-suppressor proteins". Biochemical Society Transactions 34 (5): 633-645. PMID 17052168. 
  2. ^ Mazoyer S. (2005). "Genomic rearrangements in the BRCA1 and BRCA2 genes". Hum Mutat. 25 (5): 415-22. PMID: 15832305. 
  3. ^ Barrois M. et al (2004). "Real-time PCR-based gene dosage assay for detecting BRCA1 rearrangements in breast-ovarian cancer families". Clin Genet. 65 (2): 131-6. PMID: 14984472. 
  4. ^ Hogervorst FB. et al (2003). "Large genomic deletions and duplications in the BRCA1 gene identified by a novel quantitative method". Cancer Res. 63 (7): 1449-53. PMID: 12670888. 
  5. ^ Casilli F. et al (2002). "Rapid detection of novel BRCA1 rearrangements in high-risk breast-ovarian cancer families using multiplex PCR of short fluorescent fragments". Hum Mutat. 20 (3): 218-26. PMID: 12203994. 
  6. ^ Rouleau E. et al (2007). "High-resolution oligonucleotide array-CGH applied to the detection and characterization of large rearrangements in the hereditary breast cancer gene BRCA1". Clin Genet. 72 (3): 199-207. PMID: 17718857. 

Further reading

  • Antoniou A, Pharoah PD, Narod S, Risch HA, Eyfjord JE, Hopper JL, Loman N, Olsson H, Johannsson O, Borg A, Pasini B, Radice P, Manoukian S, Eccles DM, Tang N, Olah E, Anton-Culver H, Warner E, Lubinski J, Gronwald J, Gorski B, Tulinius H, Thorlacius S, Eerola H, Nevanlinna H, Syrjakoski K, Kallioniemi OP, Thompson D, Evans C, Peto J, Lalloo F, Evans DG, Easton DF (2003). "Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case Series unselected for family history: a combined analysis of 22 studies". Am J Hum Genet 72 (5): 1117-30. PMID 12677558. 
  • Barnett GL, Friedrich CA (2004). "Recent developments in ovarian cancer genetics". Curr Opin Obstet Gynecol 16 (1): 79-85. PMID 15128012. 
  • Daniel DC (2002). "Highlight: BRCA1 and BRCA2 proteins in breast cancer". Microsc Res Tech 59 (1): 68-83. PMID 12242698. 
  • Ding SL, Sheu LF, Yu JC, Yang TL, Chen BF, Leu FJ, Shen CY (2004). "Abnormality of the DNA double-strand-break checkpoint/repair genes, ATM, BRCA1 and TP53, in breast cancer is related to tumour grade". Br J Cancer 90 (10): 1995-2001. PMID 15138484. 
  • Foulkes WD, Metcalfe K, Sun P, Hanna WM, Lynch HT, Ghadirian P, Tung N, Olopade OI, Weber BL, McLennan J, Olivotto IA, Begin LR, Narod SA (2004). "Estrogen receptor status in BRCA1- and BRCA2-related breast cancer: the influence of age, grade, and histological type". Clin Cancer Res 10 (6): 2029-34. PMID 15041722. 
  • Hall JM, Lee MK, Newman B, Morrow JE, Anderson LA, Huey B, King MC (1990). "Linkage of early-onset familial breast cancer to chromosome 17q21". Science 250 (4988): 1684-89. PMID 2270482. 
  • Liede A, Karlan BY, Narod SA (2004). "Cancer risks for male carriers of germline mutations in BRCA1 or BRCA2: a review of the literature". J Clin Oncol 22 (4): 735-42. PMID 14966099. 
  • Metcalfe K, Lynch HT, Ghadirian P, Tung N, Olivotto I, Warner E, Olopade OI, Eisen A, Weber B, McLennan J, Sun P, Foulkes WD, Narod SA (2004). "Contralateral breast cancer in BRCA1 and BRCA2 mutation carriers". J Clin Oncol 22 (12): 2328-35. PMID 15197194. 
  • Parthasarathy, Shobita (2007). Building Genetic Medicine: Breast Cancer, Technology, and the Comparative Politics of Health Care. The MIT Press. ISBN 978-0-262-016242-5. 
  • Powell SN, Kachnic LA (2003). "Roles of BRCA1 and BRCA2 in homologous recombination, DNA replication fidelity and the cellular response to ionizing radiation". Oncogene 22 (37): 5784-91. PMID 12947386. 
  • Scully R, Puget N (2002). "BRCA1 and BRCA2 in hereditary breast cancer". Biochimie 84 (1): 95-102. PMID 11900881. 
  • Tutt A, Ashworth A (2002). "The relationship between the roles of BRCA genes in DNA repair and cancer predisposition". Trends Mol Med 8 (12): 571-6. PMID 12470990. 
  • Venkitaraman AR (2002). "Cancer susceptibility and the functions of BRCA1 and BRCA2". Cell 108 (2): 171-82. PMID 11832208. 
  • Zweemer RP, van Diest PJ, Verheijen RH, Ryan A, Gille JJ, Sijmons RH, Jacobs IJ, Menko FH, Kenemans P (2000). "Molecular evidence linking primary cancer of the fallopian tube to BRCA1 germline mutations". gynecol oncol 76 (1). PMID: 10620440. 
  • Piek JM, van Diest PJ, Zweemer RP, Jansen JW, Poort-Keesom RJ, Menko FH, Gille JJ, Jongsma AP, Pals G, Kenemans P, Verheijen RH (2001). "Dysplastic changes in prophylactically removed Fallopian tubes of women predisposed to developing ovarian cancer". J Pathol. 195 (4). PMID: 11745677. 

MIT Press Books The MIT Press is a university publisher affiliated with the Massachusetts Institute of Technology (MIT) in Cambridge, Massachusetts. ...

External links


  Results from FactBites:
 
BRCA1 - Breast cancer 1, early onset - Cancer GeneticsWeb (902 words)
Somatic mutations in the BRCA1 gene in chinese sporadic breast and ovarian cancer.
Somatic mutations in the BRCA1 gene in sporadic ovarian tumours.
BRCA1 gene mutations in sporadic ovarian carcinomas: detection by PCR and reverse allele-specific oligonucleotide hybridization.
BRCA1 and BRCA2 Hereditary Breast/Ovarian Cancer (4288 words)
BRCA1 cancer-predisposing mutations is therefore unclear, but recent studies suggest that it is probably not better than that for women without such mutations.
BRCA1 mutations in the general population is estimated to be between 1/500 and 1/1000.
BRCA1 may occur in other populations, but may not be identified by the more commonly used PCR-based mutation screening approaches, such as mutation scanning, protein truncation testing (PTT), and direct sequencing.
  More results at FactBites »

 
 

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