Talk:BRCA1

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Some text in this article was originally taken from http://ghr.nlm.nih.gov/gene=brca1 (public domain)

I altered this article by adding "faulty" into the sentence "Women and men who inherit a copy of this gene...". This is because it is not the gene which causes an increased risk of cancer, but the presence of a faulty copy of the gene. A faulty copy means the gene's tumour-suppressing abilities cannot be expressed.

It is good that at least a stub is present on the BRCA genes. However, it would be best if both of these were extensively modified. As a first pass, I'd like to see the following: 1. Differential between genetic/familial breast csncers in age of onset (BRCA mutations are far more common in early onset disease) 2. Discussion of associated risks including recurrence on the other side, risks to males carrying mutations, and risks to first degree relatives. 3. Discussion of other cancers at increased risk in BRCA mutaion carriers 4. discussion of differences in clinical presentation of BRCA1 vs BRCA2 carriers 5. Increased prevalence of mutations in Ashkenazi jews This is not my specific field, and it would be great for a specialist to edit these.

[edit] adding ProteinBoxBot content

Anyone have any thoughts on how/if we should merge the existing infobox with the one generated using the ProteinBoxBot (shown at right)?

Breast cancer 1, early onset
PDB rendering based on 1jm7.
Available structures: 1jm7, 1jnx, 1n5o, 1oqa, 1t15, 1t29, 1t2u, 1t2v, 1y98
Identifiers
Symbol(s)	BRCA1; BRCAI; BRCC1; IRIS; PSCP; RNF53
External IDs	OMIM: 113705 MGI: 104537 HomoloGene: 5276
Gene ontology Molecular Function: • molecular_function • DNA binding • damaged DNA binding • transcription coactivator activity • ubiquitin-protein ligase activity • protein binding • zinc ion binding • tubulin binding • enzyme binding • metal ion binding • androgen receptor binding Cellular Component: • ubiquitin ligase complex • condensed chromosome • cellular_component • intracellular • nucleus • cytoplasm • gamma-tubulin ring complex • BRCA1-BARD1 complex Biological Process: • cell cycle checkpoint • DNA replication • DNA repair • regulation of transcription from RNA polymerase II promoter • regulation of transcription from RNA polymerase III promoter • fatty acid biosynthetic process • DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator • cell cycle • chromosome segregation • centrosome cycle • DNA damage response, signal transduction resulting in induction of apoptosis • dosage compensation, by inactivation of X chromosome • negative regulation of transcription • protein ubiquitination • androgen receptor signaling pathway • positive regulation of protein ubiquitination • regulation of cell proliferation • regulation of apoptosis • negative regulation of fatty acid biosynthetic process • positive regulation of DNA repair • negative regulation of progression through cell cycle • positive regulation of transcription, DNA-dependent • negative regulation of centriole replication
RNA expression pattern
More reference expression data
Orthologs
	Human	Mouse
Entrez	672	12189
Ensembl	ENSG00000012048	ENSMUSG00000017146
Uniprot	P38398	Q3UMS5
Refseq	NM_007294 (mRNA) NP_009225 (protein)	NM_009764 (mRNA) NP_033894 (protein)
Location	Chr 17: 38.45 - 38.53 Mb	Chr 11: 101.31 - 101.37 Mb
Pubmed search	[1]	[2]

AndrewGNF 22:47, 14 September 2007 (UTC)

[edit] Hispanics

JAMA - Hispanics in Northern California have a lot of BRCA1. JFW | T@lk 18:49, 2 January 2008 (UTC)

Well, according to a forward article, those Hispanics are descendents of conversos who fled the Spanish Inquisition. Further, it refers to BCRA1 is a Jewish marker. See http://www.forward.com/articles/how-do-sephardic-jews-figure-into-the-genetic-equa/ Mulp (talk) 04:11, 15 May 2008 (UTC)