Xcode Life

Gene: NBR2

Alternate names for this Gene: NCRNA00192

Gene Summary: This gene was identified by its close proximity on chromosome 17 to tumor suppressor gene BRCA1. Experimental evidence indicates that the two genes share a bi-directional promoter. Transcription for either gene is controlled individually by distinct transcriptional repressor factors. A short (112 amino acid) open reading frame is observed which includes a region derived from a LINE1 element. A strong Kozak signal is not observed for the putative ORF and the stop codon is more than 55 nucleotides upstream of the last splice site for the transcript, suggesting that the transcript is subject to nonsense-mediated decay. Therefore, this gene does not appear to encode a protein. Glucose starvation induces the expression of this gene and the long non-coding RNA transcribed by it functions with AMP-activated protein kinase in mediating the energy stress response.

Gene is located in Chromosome: 17

Location in Chromosome : 17q21.31

Description of this Gene: neighbor of BRCA1 lncRNA 2

Type of Gene: ncRNA

Gene: BRCA1

Alternate names for this Gene: BRCAI|BRCC1|BROVCA1|FANCS|IRIS|PNCA4|PPP1R53|PSCP|RNF53

Gene Summary: This gene encodes a 190 kD nuclear phosphoprotein that plays a role in maintaining genomic stability, and it also acts as a tumor suppressor. The BRCA1 gene contains 22 exons spanning about 110 kb of DNA. The encoded protein combines with other tumor suppressors, DNA damage sensors, and signal transducers to form a large multi-subunit protein complex known as the BRCA1-associated genome surveillance complex (BASC). This gene product associates with RNA polymerase II, and through the C-terminal domain, also interacts with histone deacetylase complexes. This protein thus plays a role in transcription, DNA repair of double-stranded breaks, and recombination. Mutations in this gene are responsible for approximately 40% of inherited breast cancers and more than 80% of inherited breast and ovarian cancers. Alternative splicing plays a role in modulating the subcellular localization and physiological function of this gene. Many alternatively spliced transcript variants, some of which are disease-associated mutations, have been described for this gene, but the full-length natures of only some of these variants has been described. A related pseudogene, which is also located on chromosome 17, has been identified.

Gene is located in Chromosome: 17

Location in Chromosome : 17q21.31

Description of this Gene: BRCA1 DNA repair associated

Type of Gene: protein-coding

rs8176071 in NBR2;BRCA1 gene and Age at menopause

PMID 29773799 2018 Elucidating the genetic architecture of reproductive ageing in the Japanese population.

rs1555600876 in NBR2;BRCA1 gene and BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1

PMID 22763381 2013 Haplotype analysis of the 185delAG BRCA1 mutation in ethnically diverse populations.

PMID 24737347 2014 BRCA1 and BRCA2 germline mutations are frequently demonstrated in both high-risk pancreatic cancer screening and pancreatic cancer cohorts.

PMID 7611277 1995 Detection of eight BRCA1 mutations in 10 breast/ovarian cancer families, including 1 family with male breast cancer.

PMID 22009639 2012 Predictive factors for BRCA1/BRCA2 mutations in women with ductal carcinoma in situ.

PMID 23658460 2013 High prevalence of BRCA1 and BRCA2 germline mutations with loss of heterozygosity in a series of resected pancreatic adenocarcinoma and other neoplastic lesions.

PMID 19906413 2010 BRCA1 185delAG mutant protein, BRAt, up-regulates maspin in ovarian epithelial cells.

PMID 18594935 2009 BRCA1 185delAG truncation protein, BRAt, amplifies caspase-mediated apoptosis in ovarian cells.

PMID 23086583 2013 Absence of loss of heterozygosity of BRCA1 in a renal tumor from a BRCA1 germline mutation carrier.

PMID 21503673 2011 Prevalence of the most frequent BRCA1 mutations in Polish population.

PMID 20711688 2011 A 67-year-old woman with BRCA 1 mutation associated with pancreatic adenocarcinoma.

PMID 22752604 2012 BRCA1/BRCA2 gene mutations/SNPs and BRCA1 haplotypes in early-onset breast cancer patients of Indian ethnicity.

PMID 23633455 2013 Nonequivalent gene expression and copy number alterations in high-grade serous ovarian cancers with BRCA1 and BRCA2 mutations.

PMID 22703879 2012 Secondary variants in individuals undergoing exome sequencing: screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genes.

PMID 22516946 2012 Germline BRCA1 mutations increase prostate cancer risk.

PMID 22535016 2012 Double heterozygosity for mutations in BRCA1 and BRCA2 in German breast cancer patients: implications on test strategies and clinical management.

PMID 23867111 2013 A high-throughput functional complementation assay for classification of BRCA1 missense variants.

PMID 22430266 2012 Breast and ovarian cancer risk and risk reduction in Jewish BRCA1/2 mutation carriers.

PMID 22006311 2011 Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing.

PMID 21990134 2012 A review of a multifactorial probability-based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS).

PMID 9609997 1998 High proportion of missense mutations of the BRCA1 and BRCA2 genes in Japanese breast cancer families.

PMID 24489791 2014 Multifactorial likelihood assessment of BRCA1 and BRCA2 missense variants confirms that BRCA1:c.122A>G(p.His41Arg) is a pathogenic mutation.

PMID 21990165 2012 Classification of missense substitutions in the BRCA genes: a database dedicated to Ex-UVs.

PMID 19543972 2010 Characterization of BRCA1 ring finger variants of uncertain significance.

PMID 18627636 2008 Evaluation of BRCA1 and BRCA2 mutations and risk-prediction models in a typical Asian country (Malaysia) with a relatively low incidence of breast cancer.

PMID 16683254 2006 A DGGE system for comprehensive mutation screening of BRCA1 and BRCA2: application in a Dutch cancer clinic setting.

PMID 16998791 2006 Prevalence of BRCA1 and BRCA2 mutations in Pakistani breast and ovarian cancer patients.

rs80357134 in NBR2;BRCA1 gene and Hereditary Breast and Ovarian Cancer Syndrome

PMID 16777318 2007 BRCA1/BRCA2 mutation status and analysis of cancer family history in participants of the Royal Marsden Hospital tamoxifen chemoprevention trial.

PMID 12097257 2002 TBX2 is preferentially amplified in BRCA1- and BRCA2-related breast tumors.

PMID 26187060 2016 Comprehensive spectrum of BRCA1 and BRCA2 deleterious mutations in breast cancer in Asian countries.

PMID 16615107 2006 Low prevalence of (pre) malignant lesions in the breast and high prevalence in the ovary and Fallopian tube in women at hereditary high risk of breast and ovarian cancer.

PMID 12672316 2003 Prediction of pathogenic mutations in patients with early-onset breast cancer by family history.

PMID 16644204 2006 BRCA1, BRCA2 and TP53 mutations in very early-onset breast cancer with associated risks to relatives.

PMID 12491499 2003 Pathologic characteristics of breast parenchyma in patients with hereditary breast carcinoma, including BRCA1 and BRCA2 mutation carriers.

PMID 25823446 2015 Massively Parallel Functional Analysis of BRCA1 RING Domain Variants.

PMID 27225819 2016 BRCA1-2 diagnostic workflow from next-generation sequencing technologies to variant identification and final report.

PMID 25452441 2015 Inherited mutations in 17 breast cancer susceptibility genes among a large triple-negative breast cancer cohort unselected for family history of breast cancer.

PMID 19543972 2010 Characterization of BRCA1 ring finger variants of uncertain significance.

PMID 9609997 1998 High proportion of missense mutations of the BRCA1 and BRCA2 genes in Japanese breast cancer families.

PMID 27741520 2016 Prevalence of BRCA1/BRCA2 mutations in a Brazilian population sample at-risk for hereditary breast cancer and characterization of its genetic ancestry.

PMID 11597388 2001 Large regional differences in the frequency of distinct BRCA1/BRCA2 mutations in 517 Dutch breast and/or ovarian cancer families.

PMID 16267036 2005 Application of embryonic lethal or other obvious phenotypes to characterize the clinical significance of genetic variants found in trans with known deleterious mutations.

PMID 11606101 2001 Germline BRCA1-2 mutations in non-Ashkenazi families with double primary breast and ovarian cancer.

PMID 20189727 2010 Low-grade adenosquamous carcinoma of the breast--A case report with a BRCA1 germline mutation.

PMID 16998791 2006 Prevalence of BRCA1 and BRCA2 mutations in Pakistani breast and ovarian cancer patients.

PMID 8595420 1995 Mutation analysis of the BRCA1 gene in 76 Japanese ovarian cancer patients: four germline mutations, but no evidence of somatic mutation.

PMID 24916970 2015 The role of targeted BRCA1/BRCA2 mutation analysis in hereditary breast/ovarian cancer families of Portuguese ancestry.

PMID 12181777 2002 Contribution of BRCA1 and BRCA2 mutations to breast and ovarian cancer in Pakistan.

rs80357438 in NBR2;BRCA1 gene and Malignant neoplasm of breast

PMID 14722926 2004 Novel germline mutations in the BRCA1 and BRCA2 genes in Indian breast and breast-ovarian cancer families.

PMID 8776600 1996 Comparison of BRCA1 polymorphisms, rare sequence variants and/or missense mutations in unaffected and breast/ovarian cancer populations.

PMID 8723683 1996 Mutations in the BRCA1 gene in Japanese breast cancer patients.

PMID 7939630 1994 BRCA1 mutations in primary breast and ovarian carcinomas.

PMID 9760198 1998 A high proportion of mutations in the BRCA1 gene in German breast/ovarian cancer families with clustering of mutations in the 3' third of the gene.

PMID 7894493 1994 Confirmation of BRCA1 by analysis of germline mutations linked to breast and ovarian cancer in ten families.

PMID 9482581 1998 Constant denaturant gel electrophoresis (CDGE) in BRCA1 mutation screening.

PMID 28364669 2017 Suggestion of BRCA1 c.5339T>C (p.L1780P) variant confer from 'unknown significance' to 'Likely pathogenic' based on clinical evidence in Korea.

PMID 7545954 1994 A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1.

PMID 23867111 2013 A high-throughput functional complementation assay for classification of BRCA1 missense variants.

PMID 7894491 1994 Mutations in the BRCA1 gene in families with early-onset breast and ovarian cancer.

PMID 15133502 2004 Structure and mechanism of BRCA1 BRCT domain recognition of phosphorylated BACH1 with implications for cancer.

PMID 12427738 2003 Structural consequences of a cancer-causing BRCA1-BRCT missense mutation.

PMID 21473589 2011 Impact of BRCA1 BRCT domain missense substitutions on phosphopeptide recognition.

PMID 12938098 2003 Twenty-three novel BRCA1 and BRCA2 sequence alterations in breast and/or ovarian cancer families in Southern Germany.

PMID 18285836 2008 Pathogenicity of the BRCA1 missense variant M1775K is determined by the disruption of the BRCT phosphopeptide-binding pocket: a multi-modal approach.

PMID 11114888 2000 Functional interactions between BRCA1 and the checkpoint kinase ATR during genotoxic stress.

PMID 10323242 1999 Molecular characterization of germline mutations in the BRCA1 and BRCA2 genes from breast cancer families in Taiwan.

PMID 11301010 2001 BACH1, a novel helicase-like protein, interacts directly with BRCA1 and contributes to its DNA repair function.

PMID 12442275 2002 BRCA1 and BRCA2 mutation analysis of early-onset and familial breast cancer cases in Mexico.

rs80357783 in NBR2;BRCA1 gene and Mammary Neoplasms

PMID 27257965 2016 Prevalence and Prognostic Role of BRCA1/2 Variants in Unselected Chinese Breast Cancer Patients.

rs397509332 in NBR2;BRCA1 gene and Neoplastic Syndromes, Hereditary

PMID 21918854 2012 BRCA1 and BRCA2 germline mutations in 85 Iranian breast cancer patients.

PMID 22006311 2011 Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing.

PMID 24504028 2014 Clinical characteristics of ovarian cancer classified by BRCA1, BRCA2, and RAD51C status.

PMID 20180971 2010 High penetrances of BRCA1 and BRCA2 mutations confirmed in a prospective series.

PMID 21709188 2011 Secondary somatic mutations restoring BRCA1/2 predict chemotherapy resistance in hereditary ovarian carcinomas.

PMID 11802209 2002 Comprehensive analysis of 989 patients with breast or ovarian cancer provides BRCA1 and BRCA2 mutation profiles and frequencies for the German population.

PMID 9609997 1998 High proportion of missense mutations of the BRCA1 and BRCA2 genes in Japanese breast cancer families.

PMID 25823446 2015 Massively Parallel Functional Analysis of BRCA1 RING Domain Variants.

PMID 27225819 2016 BRCA1-2 diagnostic workflow from next-generation sequencing technologies to variant identification and final report.

PMID 27272900 2016 Functional Assessment of Genetic Variants with Outcomes Adapted to Clinical Decision-Making.

PMID 25452441 2015 Inherited mutations in 17 breast cancer susceptibility genes among a large triple-negative breast cancer cohort unselected for family history of breast cancer.

PMID 19543972 2010 Characterization of BRCA1 ring finger variants of uncertain significance.

PMID 24489791 2014 Multifactorial likelihood assessment of BRCA1 and BRCA2 missense variants confirms that BRCA1:c.122A>G(p.His41Arg) is a pathogenic mutation.

PMID 21990134 2012 A review of a multifactorial probability-based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS).

PMID 21990165 2012 Classification of missense substitutions in the BRCA genes: a database dedicated to Ex-UVs.

PMID 11573085 2001 Structure of a BRCA1-BARD1 heterodimeric RING-RING complex.

PMID 16403807 2006 Genetic analysis of BRCA1 ubiquitin ligase activity and its relationship to breast cancer susceptibility.

PMID 20189727 2010 Low-grade adenosquamous carcinoma of the breast--A case report with a BRCA1 germline mutation.

PMID 25863477 2015 The prevalence and spectrum of BRCA1 and BRCA2 mutations in Korean population: recent update of the Korean Hereditary Breast Cancer (KOHBRA) study.

PMID 8807330 1996 Mutations and polymorphisms in the familial early-onset breast cancer (BRCA1) gene. Breast Cancer Information Core.

PMID 16998791 2006 Prevalence of BRCA1 and BRCA2 mutations in Pakistani breast and ovarian cancer patients.