Genes (50)
Species:
human : 50 | |
| Human | PPARGC1B | 133522 | peroxisome proliferator-activated receptor gamma, coactivator 1 beta | PPARGC1A, PPARGC1B, and EP300 may have roles for familial breast cancer susceptibility | | Human | SCGB3A1 | 92304 | secretoglobin, family 3A, member 1 | To establish whether germ-line mutations in HIN-1 may influence breast cancer risk, we sequenced the HIN-1 coding region in 10 familial breast cancer patients with positive logarithm of the odds scores of at least one of the markers flanking HIN-1. | | Human | PALB2 | 79728 | partner and localizer of BRCA2 | Here we show, by screening for PALB2 mutations in Finland that a frameshift mutation, c.1592delT, is present at significantly elevated frequency in familial breast cancer cases compared with ancestry-matched population controls. We identified monoallelic truncating PALB2 mutations in 10/923 individuals with familial breast cancer compared with 0/1,084 controls (P = 0.0004) and show that such mutations confer a 2.3-fold higher risk of breast cancer (95% confidence interval (c.i.) = 1.4-3.9, P = 0.0025). | | Human | AKAP10 | 11216 | A kinase (PRKA) anchor protein 10 | We tested the hypothesis whether the functional amino acid exchange Ile646Val, located in the kinase-binding domain of AKAP10, is a low-penetrance familial breast cancer risk factor. Our results indicate for the first time the importance of AKAP10 Ile646Val for familial breast cancer susceptibility. The analysis of 787 BRCA1/2 mutation-negative familial breast cancer patients and 993 controls revealed an association of the AKAP10 Ile646Val polymorphism with increased familial breast cancer risk [odds ratio (OR)=1.25, 95% confidence interval (CI) 1.03-1.51, P=0.024]. | | Human | CHEK2 | 11200 | checkpoint kinase 2 | Click here to display 27 evidence detail records. | | Human | PPARGC1A | 10891 | peroxisome proliferator-activated receptor gamma, coactivator 1 alpha | PPARGC1A, PPARGC1B, and EP300 may have roles for familial breast cancer susceptibility | | Human | SAFB2 | 9667 | scaffold attachment factor B2 | SAFB2 is not likely to be causative of the hereditary breast cancer syndrome in west Swedish breast cancer families | | Human | NMI | 9111 | N-myc (and STAT) interactor | Two mutated forms of BRCA1, a missense (A1708E) and a nonsense (Y1853X) that have been identified in familial breast cancers, associated with Nmi and c-Myc but failed to suppress c-Myc-induced hTERT promoter activity. | | Human | CLDN1 | 9076 | claudin 1 | In the sporadic tumors and hereditary breast cancer patients, we have found no evidence to support the involvement of aberrant CLDN1 in breast tumorigenesis. In order to evaluate the CLDN-1 gene in sporadic and hereditary breast cancer, we have characterized its genomic organization and have screened the four coding exons for somatic mutations in 96 sporadic breast carcinomas and for germline mutations in 93 breast cancer patients with a strong family history of breast cancer. | | Human | PER2 | 8864 | period circadian clock 2 | a role for both Per1 and Per2 in normal breast function and show for the first time that deregulation of the circadian clock may be an important factor in the development of familial breast cancer | | Human | PCGF2 | 7703 | polycomb group ring finger 2 | To investigate this possibility, we examined the expression of mel-18 mRNA in human breast cancer cell lines and searched for mel-18 gene mutations in sporadic and familial breast cancers. | | Human | XRCC1 | 7515 | X-ray repair complementing defective repair in Chinese hamster cells 1 | XRCC1 IVS10+141G>A is an intronic polymorphism that is associated with XRCC1 expression, apoptosis and familial breast cancer | | Human | WRN | 7486 | Werner syndrome, RecQ helicase-like | Genotyping analyses, performed on 816 BRCA1/2 mutation-negative German familial breast cancer patients and 1012 German controls, revealed a significant association of the WRN Cys1367Arg polymorphism with familial breast cancer (OR = 1.28, 95% CI 1.06-1.54) and high-risk familial breast cancer (OR = 1.32, 95% CI 1.06-1.65). In conclusion, our study indicates the importance of inherited variants in the WRN and p53 genes for familial breast cancer susceptibility. We tested the hypothesis whether three polymorphic, non-conservative amino acid exchanges in WRN and BLM act as low-penetrance familial breast cancer risk factors. | | Human | TP53 | 7157 | tumor protein p53 | Stroma-specific loss of heterozygosity or allelic imbalance is associated with somatic TP53 mutations and regional lymph-node metastases in sporadic breast cancer but not in hereditary breast cancer | | Human | TNF | 7124 | tumor necrosis factor | Polymorphism of 308 (G/A) TNFalpha and TNFa depended, first of all, on patterns of breast and, secondly, on the elevated TNFalpha expression as a factor of pathogenesis of hereditary breast cancer | | Human | TGFBR1 | 7046 | transforming growth factor, beta receptor 1 | the TGFBR1(*)6A variant may be associated with an increased risk of low-risk familial breast cancer and might be a marker for poorly differentiated breast cancer | | Human | TFF1 | 7031 | trefoil factor 1 | To evaluate the expected impact of Tamoxifen in preventing hereditary breast cancers, a modelling was made according to the efficacy of the treatment with respect to biological predictors of response: estrogen receptor (ER) and pS2 status of a series of 33 BRCA1-related breast cancers (BRCA1-BCs), and using data on BRCA1-BCs penetrance, as well as compliance and acceptability of the strategy. | | Human | TCF7L2 | 6934 | transcription factor 7-like 2 (T-cell specific, HMG-box) | METHODS: We investigated the effect of the TCF7L2 rs12255372 variant on familial breast cancer (BC) risk by means of TaqMan allelic discrimination, analyzing BRCA1/2 mutation-negative index patients of 592 German BC families and 735 control individuals. Transcription factor 7-like 2 (TCF7L2) variant is associated with familial breast cancer risk: a case-control study. results suggest a possible influence of TCF7L2 rs12255372 on the risk of familial breast cancer | | Human | STK11 | 6794 | serine/threonine kinase 11 | To establish whether germline mutations of STK11/LKB1 account for familial breast cancer, 22 patients from 14 breast cancer families with LOH on 19p and one PJS family were selected for screening for germline mutations of LKB1/STK11. Germline mutation screening of the STK11/LKB1 gene in familial breast cancer with LOH on 19p. | | Human | SKP2 | 6502 | S-phase kinase-associated protein 2, E3 ubiquitin protein ligase | In contrast, most BRCA2-associated carcinomas grouped in a branch composed by ER/PR/BCL2-positive tumors with a higher expression of the cell cycle proteins cyclin D1, cyclin D3, p27, p16, p21, CDK4, CDK2 and CDK1.In conclusion, our study in hereditary breast cancer tumors analyzing 37 immunohistochemical markers, define the molecular differences between BRCA1 and BRCA2 tumors with respect to hormonal receptors, cell cycle, apoptosis and basal cell markers. | | Human | SHC1 | 6464 | SHC (Src homology 2 domain containing) transforming protein 1 | A non-significant trend for a protective effect of the SHC1 Val300 allele was also seen in an independent population consisting of German familial breast cancer cases and matched controls. | | Human | SAFB | 6294 | scaffold attachment factor B | SAFB1 is not likely to be causative of the hereditary breast cancer syndrome in west Swedish breast cancer families | | Human | RAD51L3 | 5892 | | E233G single nucleotide polymorphism is a low-penetrance susceptibility gene in the specific subgroup of high-risk familial breast cancer cases that are not related to BRCA1/2 The novel variant E233G in RAD51D is more highly represented in high-risk, site-specific, familial breast cancer cases that are not associated with the BRCA1/2 genes, with a frequency of 5.74% (n = 174) compared to a control population (n = 567) and another subset of breast cancer patients (n = 765) with a prevalence of around 2% only (comparison to controls, OR = 2.6, 95% CI 1.12-6.03; p < 0.021). | | Human | RAD51 | 5888 | RAD51 recombinase | To establish whether polymorphic variation of RAD51 modifies risk for hereditary breast cancer, we conducted a matched case-control study on 83 pairs of female carriers of the BRCA1 5382insC mutation. To investigate this possibility, we screened Japanese patients with hereditary breast cancer for Rad51 mutations and found a single alteration in exon 6. RAD51 135G>C polymorphism has a role in familial breast cancer in a South American population It is therefore possible that alterations of the Rad51 gene may be involved in the development of hereditary breast cancer. | | Human | PTPRG | 5793 | protein tyrosine phosphatase, receptor type, G | The FHIT and PTPRG genes are deleted in benign proliferative breast disease associated with familial breast cancer and cytogenetic rearrangements of chromosome band 3p14. |
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