Property Report: BRCA1

E	Experimentally determined
S	Predicted by sequence similarity
P	Predicted by analysis other than seq. similarity
K	Predicted by BioKnowledge^TM Transfer by BIOBASE
see	Indicates references that mention and cite a finding, but do not demonstrate it directly.

Human BRCA1	BRCA1 and Breast Neoplasms

Gene/Protein	Molecule	Alteration	Relationship	Sub-type / Linked disorders	Biological Process	Disease	Cell/Tissue Specificity	Annotation & Reference
BRCA1	DNA	gene mutation	may cause		chromatin remodeling	Breast Neoplasms		mutation in the BRCA1 gene may cause abnormal chromatin remodeling associated with breast neoplasms pid1160697, E
BRCA1	DNA	promoter hypermethylation	correlates with	non-familial/sporadic		Breast Neoplasms		hypermethylation of the BRCA1 promoter correlates with non-familial form of breast neoplasms pid1199410, E
BRCA1	DNA	gene mutation	correlates with	familial		Breast Neoplasms		mutation in the BRCA1 gene correlates with familial form of breast neoplasms pid1199447, E; pid1109980, E; pid1199380, E
BRCA1	DNA	gene deletion mutation	may cause	increased occurrence of familial form		Breast Neoplasms		deletion mutation in the BRCA1 gene may cause increased occurrence of familial form of breast neoplasms pid1006685, E; pid1109370, E
BRCA1	DNA	gene deletion mutation	may cause		transcription	Breast Neoplasms		deletion mutation in the BRCA1 gene may cause abnormal transcription associated with breast neoplasms pid1051870, E
BRCA1	DNA	gene mutation	may cause	increased occurrence of familial form		Breast Neoplasms		mutation in the BRCA1 gene may cause increased occurrence of familial form of breast neoplasms pid1199859, E
BRCA1	Protein	ubiquitin-protein ligase activity	may cause		protein polyubiquitination	Breast Neoplasms		absence of the ubiquitin-protein ligase activity of BRCA1 may cause decreased protein polyubiquitination associated with breast neoplasms pid1120457, E
BRCA1	DNA	gene deletion mutation	may cause		chromatin remodeling	Breast Neoplasms		deletion mutation in the BRCA1 gene may cause abnormal chromatin remodeling associated with breast neoplasms pid1051870, E
BRCA1	DNA	gene missense mutation	may cause	increased occurrence of familial form		Breast Neoplasms		missense mutation in the BRCA1 gene may cause increased occurrence of familial form of breast neoplasms pid1006685, E; pid1109370, E
BRCA1	Protein	increased protein expression	correlates with		response to drug	Breast Neoplasms		increased expression of BRCA1 protein correlates with increased response to drug associated with breast neoplasms pid1096046, E
BRCA1	DNA	promoter hypermethylation	correlates with			Breast Neoplasms		hypermethylation of the BRCA1 promoter correlates with carcinoma tumors associated with breast neoplasms pid1199410, E
BRCA1	Protein	decreased folding	may cause			Breast Neoplasms		decreased folding of BRCA1 may cause breast neoplasms pid1192607, E
BRCA1	mRNA	lack of mRNA expression	correlates with			Breast Neoplasms		lack of expression of BRCA1 mRNA correlates with carcinoma tumors associated with breast neoplasms pid1199410, E
BRCA1	DNA	gene mutation	causes	familial		Breast Neoplasms		mutation in the BRCA1 gene causes familial form of breast neoplasms pid1007158, E
BRCA1	DNA	gene mutation	correlates with			Breast Neoplasms		mutation in the BRCA1 gene correlates with carcinoma tumors associated with breast neoplasms pid1109980, E
BRCA1	DNA	mutation in PFAM domain	causes			Breast Neoplasms		mutation in the BRCA1 C Terminus (BRCT) domain of BRCA1 causes breast neoplasms pid1176377, E
BRCA1	DNA	gene mutation	correlates with	Disease Susceptibility		Breast Neoplasms		mutation in the BRCA1 gene correlates with increased occurrence of disease susceptibility associated with breast neoplasms pid1199413, E
BRCA1	Protein	altered protein stability	may cause			Breast Neoplasms		abnormal stability of BRCA1 may cause breast neoplasms pid1176377, E
BRCA1	DNA	gene mutation	correlates with		DNA repair	Breast Neoplasms		mutation in the BRCA1 gene correlates with decreased DNA repair associated with breast neoplasms pid1199377, E
BRCA1	DNA	gene loss of heterozygosity	correlates with	Carcinoma, Small Cell		Breast Neoplasms		loss of heterozygosity at the BRCA1 gene correlates with small cell carcinoma associated with breast neoplasms pid1184144, E
BRCA1	DNA	gene mutation	correlates with		protein metabolic process	Breast Neoplasms		mutation in the BRCA1 gene correlates with abnormal protein metabolic process associated with breast neoplasms pid1199447, E
BRCA1	DNA	gene mutation	may cause		protein polyubiquitination	Breast Neoplasms		mutation in the BRCA1 gene may cause decreased protein polyubiquitination associated with breast neoplasms pid1120457, E
BRCA1	DNA	gene mutation	causes	increased occurrence of early onset form		Breast Neoplasms		mutation in the BRCA1 gene causes increased occurrence of early onset form of breast neoplasms pid1199868, E; pid1199817, E
BRCA1	DNA	gene mutation	correlates with			Breast Neoplasms		mutation in the BRCA1 gene correlates with breast neoplasms pid1199411, E
BRCA1	DNA	promoter hypermethylation	may cause	non-familial/sporadic		Breast Neoplasms		hypermethylation of the BRCA1 promoter may cause non-familial form of breast neoplasms pid1199462, E
BRCA1	Protein	lack of protein expression	correlates with	Death		Breast Neoplasms		lack of expression of BRCA1 protein correlates with increased occurrence of death associated with breast neoplasms pid1199431, E
BRCA1	Protein	increased protein expression	correlates with		cell proliferation	Breast Neoplasms		increased expression of BRCA1 protein correlates with decreased cell proliferation associated with breast neoplasms pid1096046, E
BRCA1	DNA	gene nonsense mutation	may cause	increased occurrence of familial form		Breast Neoplasms		nonsense mutation in the BRCA1 gene may cause increased occurrence of familial form of breast neoplasms pid1006685, E; pid1109370, E
BRCA1	DNA	gene mutation	correlates with	early onset		Breast Neoplasms		mutation in the BRCA1 gene correlates with early onset form of breast neoplasms pid1199380, E
BRCA1	DNA	gene mutation	may cause		DNA repair	Breast Neoplasms		mutation in the BRCA1 gene may cause decreased DNA repair associated with breast neoplasms pid1179389, E
BRCA1	DNA	gene insertion mutation	may cause	increased occurrence of familial form		Breast Neoplasms		insertion mutation in the BRCA1 gene may cause increased occurrence of familial form of breast neoplasms pid1006685, E
BRCA1	mRNA	increased mRNA expression	may correlate with		response to organic substance	Breast Neoplasms		increased expression of BRCA1 mRNA may correlate with increased response to organic substance associated with breast neoplasms pid1199892, E
BRCA1	mRNA	lack of mRNA expression	correlates with	non-familial/sporadic		Breast Neoplasms		lack of expression of BRCA1 mRNA correlates with non-familial form of breast neoplasms pid1199410, E
BRCA1	DNA	gene mutation	correlates with		transcription	Breast Neoplasms		mutation in the BRCA1 gene correlates with abnormal transcription associated with breast neoplasms pid1167122, E
BRCA1	DNA	promoter hypermethylation	may cause			Breast Neoplasms		hypermethylation of the BRCA1 promoter may cause breast neoplasms pid1199462, E
BRCA1	Protein	transcription activator activity	may cause	increased occurrence of familial form		Breast Neoplasms		decreased transcription activator activity of BRCA1 may cause increased occurrence of familial form of breast neoplasms pid1109370, E
BRCA1	DNA	protein domain missense mutation	causes			Breast Neoplasms		missense mutation in the BRCA1 C Terminus (BRCT) domain of BRCA1 causes breast neoplasms pid1192607, E
BRCA1	Protein	decreased protein stability	may cause			Breast Neoplasms		decreased stability of BRCA1 may cause breast neoplasms pid1192607, E
BRCA1	DNA	gene mutation	may cause		transcription	Breast Neoplasms		mutation in the BRCA1 gene may cause abnormal transcription associated with breast neoplasms pid1199400, E

References [hide]

(26 entries)

[1] PMID 12838319 . Resveratrol increases BRCA1 and BRCA2 mRNA expression in breast tumour cell lines. British Journal Of Cancer 89(1) 168-72. (2003)

[2] PMID 12427738 . Structural consequences of a cancer-causing BRCA1-BRCT missense mutation. Journal Of Biological Chemistry 278(4) 2630-5. (2003)

[3] PMID 12845657 . Prevalence of BRCA1 and BRCA2 germline mutations in young breast cancer patients: a population-based study. International Journal Of Cancer 106(4) 588-93. (2003)

[4] PMID 11857015 . A comprehensive model for familial breast cancer incorporating BRCA1, BRCA2 and other genes. British Journal Of Cancer 86(1) 76-83. (2002)

[5] PMID 12195423 . BRCA1 induces DNA damage recognition factors and enhances nucleotide excision repair. Nature Genetics 32(1) 180-4. (2002)

[1] PMID 12838319 . Resveratrol increases BRCA1 and BRCA2 mRNA expression in breast tumour cell lines. British Journal Of Cancer 89(1) 168-72. (2003)

[2] PMID 12427738 . Structural consequences of a cancer-causing BRCA1-BRCT missense mutation. Journal Of Biological Chemistry 278(4) 2630-5. (2003)

[3] PMID 12845657 . Prevalence of BRCA1 and BRCA2 germline mutations in young breast cancer patients: a population-based study. International Journal Of Cancer 106(4) 588-93. (2003)

[4] PMID 11857015 . A comprehensive model for familial breast cancer incorporating BRCA1, BRCA2 and other genes. British Journal Of Cancer 86(1) 76-83. (2002)

[5] PMID 12195423 . BRCA1 induces DNA damage recognition factors and enhances nucleotide excision repair. Nature Genetics 32(1) 180-4. (2002)

[6] PMID 11823860 . Gene expression profiling predicts clinical outcome of breast cancer. Nature 415(6871) 530-6. (2002)

[7] PMID 11896095 . Clinical characteristics of individuals with germline mutations in BRCA1 and BRCA2: analysis of 10,000 individuals. J Clin Oncol 20(6) 1480-90. (2002)

[8] PMID 12096901 . Characterisation of the BRCT domains of the breast cancer susceptibility gene product BRCA1. Journal Of Molecular Biology 320(3) 431-42. (2002)

[9] PMID 11981002 . The pathology of familial breast cancer: predictive value of immunohistochemical markers estrogen receptor, progesterone receptor, HER-2, and p53 in patients with mutations in BRCA1 and BRCA2. J Clin Oncol 20(9) 2310-8. (2002)

[10] PMID 11927492 . Variation in BRCA1 cancer risks by mutation position. Cancer Epidemiol Biomarkers Prev 11(4) 329-36. (2002)

[11] PMID 11358831 . TP53 mutations in breast cancer associated with BRCA1 or BRCA2 germ-line mutations: distinctive spectrum and structural distribution. Cancer Research 61(10) 4092-7. (2001)

[12] PMID 11486176 . Primary mammary small-cell carcinoma: a molecular analysis of 2 cases. Hum Pathol 32(7) 753-7. (2001)

[13] PMID 11443609 . Prognostic significance of BRCA1 expression in Japanese sporadic breast carcinomas. Cancer 92(1) 54-60. (2001)

[14] PMID 11278247 . The RING heterodimer BRCA1-BARD1 is a ubiquitin ligase inactivated by a breast cancer-derived mutation. Journal Of Biological Chemistry 276(18) 14537-40. (2001)

[15] PMID 11207349 . Gene-expression profiles in hereditary breast cancer. N Engl J Med 344(8) 539-48. (2001)

[16] PMID 11504767 . Family history of breast and ovarian cancers and BRCA1 and BRCA2 mutations in a population-based series of early-onset breast cancer. Journal Of The National Cancer Institute 93(16) 1215-23. (2001)

[17] PMID 11739404 . BRCA1-induced large-scale chromatin unfolding and allele-specific effects of cancer-predisposing mutations. Journal Of Cell Biology 155(6) 911-21. (2001)

[18] PMID 11157798 . Functional analysis of BRCA1 C-terminal missense mutations identified in breast and ovarian cancer families. Human Molecular Genetics 10(4) 353-60. (2001)

[19] PMID 11042697 . The anti-proliferative effects of 1alpha,25(OH)2D3 on breast and prostate cancer cells are associated with induction of BRCA1 gene expression. Oncogene 19(44) 5091-7 (2000)

[20] PMID 10749912 . Promoter hypermethylation and BRCA1 inactivation in sporadic breast and ovarian tumors. Journal Of The National Cancer Institute 92(7) 564-9. (2000)

[21] PMID 10943845 . BRCA1 is associated with a human SWI/SNF-related complex: linking chromatin remodeling to breast cancer. Cell 102(2) 257-65 (2000)

[22] PMID 10657950 . Tumour-specific distribution of BRCA1 promoter region methylation supports a pathogenetic role in breast and ovarian cancer. Carcinogenesis 21(2) 147-51. (2000)

[23] PMID 10359546 . Prevalence of BRCA1 and BRCA2 gene mutations in patients with early-onset breast cancer. Journal Of The National Cancer Institute 91(11) 943-9. (1999)

[24] PMID 10630170 . Clinical impact of molecular genetic diagnosis, genetic counseling, and management of hereditary cancer. Part I: Studies of cancer in families. Cancer 86(11) 2449-56. (1999)

[25] PMID 7545954 . A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1. Science 266(5182) 66-71 (1994)

[26] PMID 7939630 . BRCA1 mutations in primary breast and ovarian carcinomas. Science 266(5182) 120-2 (1994)

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