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gene

BRCA2

HGNC:1101 · 95 retained evidence mentions

Supporting evidence

TypeEntitySource evidenceConfidenceExtractor
geneBRCA2“Prevalence of BRCA1 and BRCA2 Germline Mutations in Western Saudi Patients with Epithelial Tubo-Ovarian Carcinoma.”0.98hgnc_dict_v1
geneBRCA2“Low Frequency of Pathogenic Variants in BRCA1 Exons 11/20 and BRCA2 Exon 11 Suggests Divergent Mutational Hotspots in Sudanese Breast Cancer Patients: A Case-Control Study.”0.98hgnc_dict_v1
geneBRCA2“The genes associated with tumor suppression (p53, BRCA1, and BRCA2), telomere length maintenance (TERT), DNA damage response (FGFR2), and DNA repair (CHD1) are recognized for their intricate function in tumor genesis and progression.”0.98hgnc_dict_v1
geneBRCA2“Eleven patients (4.5%) harbored germline PVs/LPVs in cancer susceptibility genes including STK11, TP53, BRCA1, BRCA2, FANCA, SLX4, RAD50, MSH6, POLD1 and NF1.”0.98hgnc_dict_v1
geneBRCA2“PALB2 plays a crucial role in DNA repair by interacting with BRCA1 and BRCA2.”0.98hgnc_dict_v1
geneBRCA2“BACKGROUND: The breast cancer (BC) susceptibility genes 1 (BRCA1) and BC susceptibility genes 2 (BRCA2) are critical genes associated with hereditary breast cancer, and their mutation prevalence might greatly vary across different ethnic populations.”0.98hgnc_dict_v1
geneBRCA2“Identification of BRCA1 and BRCA2 Germline Mutations in Female Breast Cancer Patients Using Next Generation Sequencing.”0.98hgnc_dict_v1
geneBRCA2“The status of the BRCA1 and BRCA2 genes was determined by DNA sequencing in all patients.”0.98hgnc_dict_v1
geneBRCA2“ML identified three BC-CML clusters: (1) Cluster 1 [breast cancer susceptibility gene 2 (BRCA2), TP53]; (2) Cluster 2 [isocitrate dehydrogenase (IDH) 1/2, ten-eleven translocation 2]; and (3) Cluster 3 [Janus kinase (JAK) 2, colony-stimulating factor 3 receptor], with distinct COSMIC signatures.”0.98hgnc_dict_v1
geneBRCA2“RESULTS: Somatic variants were identified in 23 tumors, with recurrent mutations in BRCA2 (61%), TCF7L2 (52%), EGFR (43%), and SOS1 (43%).”0.98hgnc_dict_v1
geneBRCA2“High-risk genes, including BRCA1, BRCA2, PALB2, TP53 and PTEN, with germline pathogenic or likely pathogenic variants (PVs/LPVs), substantially increase the risk of breast cancer and other malignancies.”0.98hgnc_dict_v1
geneBRCA2“Moreover, it can inhibit inflammatory markers (IL-6, TNF-α, and IL-1β), downregulate oncogenes (Ras, HER2, MYC, and BCR/ABL1), and upregulate tumor suppressor genes (TSGs) such as TP53, PTEN, and BRCA1 and BRCA2 expression.”0.98hgnc_dict_v1
geneBRCA2“Overall, 34, 10, and 7 PV/LPV were identified in BRCA1, BRCA2, and other genes, respectively.”0.98hgnc_dict_v1
geneBRCA2“Breast Cancer Risk Modification in Women with Pathogenic Variants in BRCA1, BRCA2, ATM, CHEK2, and PALB2.”0.98hgnc_dict_v1
geneBRCA2“Risk-benefits assessment of tamoxifen or raloxifene as chemoprevention for risk reduction of breast cancer among BRCA1 and BRCA2 carriers: a meta-analysis.”0.98hgnc_dict_v1
geneBRCA2“Mutations in the BRCA1 and BRCA2 genes are well-established in hereditary breast cancer.”0.98hgnc_dict_v1
geneBRCA2“The individual-patient data confirmed the poorer prognosis of BRCA2 MT and RB1 Alt, but not BRCA1 MT, and a significant co-occurrence of RB1 loss of heterozygosity (LOH) among BRCA2 MT carriers.”0.98hgnc_dict_v1
geneBRCA2“RAD51 facilitates homology search and strand invasion, while PALB2 links BRCA1 and BRCA2, stabilizing RAD51 filaments.”0.98hgnc_dict_v1
geneBRCA2“Unique or novel PSVs, particularly in BRCA2 and AKT1, were also reported, suggesting potential founder effects or region-specific genetic risks.”0.98hgnc_dict_v1
geneBRCA2“Prostate cancer commonly involves TMPRSS2-ERG fusions and BRCA2 mutations, affecting treatment strategies, and penile squamous cell carcinoma follows distinct HPV-dependent and HPV-independent pathways, with mutations in TP53 and CDKN2A genes.”0.98hgnc_dict_v1
geneBRCA2“NGS already has the capacity to ameliorate genetic screening in families with previous histories of the high occurrence of various cancer-associated genes, including TP53, APC, BRCA2, and BRCA1.”0.98hgnc_dict_v1
geneBRCA2“Individuals with TP53 mutations also have an elevated probability of carrying mutations in BRCA1 and BRCA2 genes.”0.98hgnc_dict_v1
geneBRCA2“Notably, the BRCA1, BRCA2, and HOXB13 genes exhibited significant variants in 20% of the prostate cancer patients.”0.98hgnc_dict_v1
geneBRCA2“Detection of genomic variants in BRCA1 and BRCA2 across gastric cancer patients using next generation sequencing.”0.98hgnc_dict_v1
geneBRCA2“Exploration of BRCA1 and BRCA2 mutations in gastric cancer patients through next generation sequencing: implications for diagnosis and therapy.”0.98hgnc_dict_v1
geneBRCA2“Various risk factors contributing to breast cancer include age, family history, genetic mutations (chiefly in BRCA1 and BRCA2 genes) along with hormonal imbalances (oestrogen, progesterone, HER2).”0.98hgnc_dict_v1
geneBRCA2“RESULTS: Our study identified genetic mutations in BRCA1, BRCA2, TP53, and PMS2.”0.98hgnc_dict_v1
geneBRCA2“HRT directly alleviated the levels of urogenital symptoms (β = -0.195, p = 0.005), which mediated its indirect significant effects on the somatic-vegetative and psychological symptoms of menopause (β = -0.046, -0.067; both p values = 0.004, respectively), especially in BRCA2 carriers and in women who were currently physically active, premenopausal at the time of RRSO, had a high BMI, and had no history of breast cancer.”0.98hgnc_dict_v1
geneBRCA2“Newly synthesized chitosan nanoparticles loaded with caffeine/moringa leaf extracts Halt Her2, BRCA1, and BRCA2 expressions.”0.98hgnc_dict_v1
geneBRCA2“Sanger sequencing was used to analyze peripheral blood DNA from these individuals to detect disease-causing mutations in the BRCA1, BRCA2, PTEN, TP53, and ATM genes.”0.98hgnc_dict_v1
geneBRCA2“BReast CAncer (BRCA)1 and BRCA2 gene pathogenic variants account for most hereditary breast cancers (BC).”0.98hgnc_dict_v1
geneBRCA2“Breast and ovarian cancers are prevalent worldwide, with genetic factors such as BRCA1 and BRCA2 mutations playing a significant role.”0.98hgnc_dict_v1
geneBRCA2“BRCA2 Polymorphisms and Breast Cancer Susceptibility: a Multi-Tools Bioinformatics Approach.”0.98hgnc_dict_v1
geneBRCA2“Preliminary insights on the mutational spectrum of BRCA1 and BRCA2 genes in Pakhtun ethnicity breast cancer patients from Khyber Pakhtunkhwa (KP), Pakistan.”0.98hgnc_dict_v1
geneBRCA2“Partner and localiser of BRCA2 (PALB2), also known as FANCN, is a key tumour suppressor gene in maintaining genome integrity.”0.98hgnc_dict_v1
geneBRCA2“Exploring Citrus sinensis Phytochemicals as Potential Inhibitors for Breast Cancer Genes BRCA1 and BRCA2 Using Pharmacophore Modeling, Molecular Docking, MD Simulations, and DFT Analysis.”0.98hgnc_dict_v1
geneBRCA2“Ki-67 was high in 19 cases (31.1%); six (9.8%) had BRCA1 mutations, and six (9.8%) had BRCA2 mutations.”0.98hgnc_dict_v1
geneBRCA2“As we did not find other conclusive candidates, we then performed a candidate gene approach to identify other candidate variants in genes involved in the FANCI protein interactome in OC families negative for pathogenic variants in BRCA1, BRCA2, BRIP1, RAD51C, RAD51D, and FANCI, which identified four candidate variants.”0.98hgnc_dict_v1
geneBRCA2“Multiple synchronous malignancies in an infant with concomitant homozygous BRCA2 and PMS2 mutations with Fanconi anemia phenotype.”0.98hgnc_dict_v1
geneBRCA2“Frequent mutations were observed in BRCA2 (79%), CHEK1 (78%), ATM (76%), PMS2 (76%), ATR (74%), and MYCL (73%).”0.98hgnc_dict_v1
geneBRCA2“After collecting the colon samples, it was analyzed histologically and immunohistochemically with the help of Breast Cancer antibodies (BRCA2 and 1 correspondingly) and H&M staining (hematoxylin and eosin).”0.98hgnc_dict_v1
geneBRCA2“Of the 310 subjects, 119 (38.4%) were carriers of pathogenic or likely pathogenic variants (PVs) affecting one or more of the following genes: TP53, ATM, CHEK2, CDH1, CDKN2A, BRCA1, BRCA2, PALB2, BRIP1, RAD51D, APC, MLH1, MSH2, MSH6, PMS2, PTEN, NBN/NBS1 and MUTYH.”0.98hgnc_dict_v1
geneBRCA2“Probably pathogenic alterations occurred in 13/19 tumors (68.4%) and included variants in POLE (31.6%), CDKN2A (26%), NF1 (21%), BRCA2 (15.8%), SETD2 (5.3%), ATM (5.3%), FLT3 (5.3%), and ROS1 (5.3%).”0.98hgnc_dict_v1
geneBRCA2“The present review discusses candidate genes such as HOXB13, BRCA1, BRCA2, ATM, MMR gene, RAD51C, CHECK2, etc., and family-based linkage studies which defined the location of loci on chromosomal regions like 1q24-25, 1q42-43, Xq27-28, 1p36, 20q13, 17q21.”0.98hgnc_dict_v1
geneBRCA2“BRCA1 and BRCA2 carriers with breast, ovarian and prostate cancer demonstrate a different pattern of metastatic disease compared with non-carriers: results from a rapid autopsy programme.”0.98hgnc_dict_v1
geneBRCA2“Obesity promotes breast epithelium DNA damage in women carrying a germline mutation in BRCA1 or BRCA2.”0.98hgnc_dict_v1
geneBRCA2“Mutations in the BRCA1 and BRCA2 tumour suppressor genes are associated with prostate cancer risk; however, optimal screening protocols for individuals with these mutations have been a subject of debate.”0.98hgnc_dict_v1
geneBRCA2“A bibliometric analysis of the top 100 most cited papers and research trends in breast cancer related BRCA1 and BRCA2 genes.”0.98hgnc_dict_v1
geneBRCA2“Low BRCA1 and BRCA2 Germline Mutation Rates in a French-Canadian Population with a Diagnosis of Epithelial Tubo-Ovarian Carcinoma.”0.98hgnc_dict_v1
geneBRCA2“Breast cancer type 1 susceptibility protein (BRCA1) is closely related to the BRCA2 (breast cancer type 2 susceptibility protein) and BARD1 (BRCA1-associated RING domain-1) proteins.”0.98hgnc_dict_v1
geneBRCA2“Case Review: Whole-Exome Sequencing Analyses Identify Carriers of a Known Likely Pathogenic Intronic BRCA1 Variant in Ovarian Cancer Cases Clinically Negative for Pathogenic BRCA1 and BRCA2 Variants.”0.98hgnc_dict_v1
geneBRCA2“Comparing breast cancer imaging characteristics of CHEK2 with BRCA1 and BRCA2 gene mutation carriers.”0.98hgnc_dict_v1
geneBRCA2“All the patients carrying TP53 mutations were negative for BRCA1 and BRCA2 mutations.”0.98hgnc_dict_v1
geneBRCA2“BACKGROUND: Familial ovarian cancer (OC) cases not harbouring pathogenic variants in either of the BRCA1 and BRCA2 OC-predisposing genes, which function in homologous recombination (HR) of DNA, could involve pathogenic variants in other DNA repair pathway genes.”0.98hgnc_dict_v1
geneBRCA2“We have protein expression profiled for MRN and a panel of DNA repair factors involved in double-strand break repair (BRCA1, BRCA2, ATM, CHK2, ATR, Chk1, pChk1, RAD51, γH2AX, RPA1, RPA2, DNA-PKcs), RECQ DNA helicases (BLM, WRN, RECQ1, RECQL4, RECQ5), nucleotide excision repair (ERCC1) and base excision repair (SMUG1, APE1, FEN1, PARP1, XRCC1, Pol β) in 1650 clinical breast cancers.”0.98hgnc_dict_v1
geneBRCA2“Genetic sequencing showed a point mutation in the CTNNB1 gene, with no mutations in the APC, BRCA1, and BRCA2 genes.”0.98hgnc_dict_v1
geneBRCA2“Multiple carriers of a limited number of pathogenic variants in BRCA1 and BRCA2, the major risk genes for hereditary breast and/or ovarian cancer syndrome families, have been identified in French Canadians, which is in stark contrast to the array of over 2000 different pathogenic variants reported in each of these genes in other populations.”0.98hgnc_dict_v1
geneBRCA2“Representing a complex and heterogeneous type of cancer, its occurrence is attributed by both genetic (gene mutations, e.g., BRCA1, BRCA2) and non-genetic (race, ethnicity, etc.) risk factors.”0.98hgnc_dict_v1
geneBRCA2“Among the genes analyzed, the highest mutation rates were found in PIK3CA (12.9%), BRCA2 (11.7%), BRCA1 (10.2%), TP53 (6.0%), MSH2 (3.8%), PMS2 (3.8%), BARD1 (3.8%), MLH1 (3.4%), CDH1 (3.0%), RAD50 (3.0%), MSH6 (3.0%), NF1 (2.6%), in addition to others.”0.98hgnc_dict_v1
geneBRCA2“Polβ small molecular inhibitors (Pamoic acid and NSC666719) were selectively toxic to BRCA2 deficient cells and associated with double-strand breaks (DSB) accumulation, cell cycle arrest and increased apoptosis.”0.98hgnc_dict_v1
geneBRCA2“Comprehensive study for BRCA1 and BRCA2 entire coding regions in breast cancer.”0.98hgnc_dict_v1
geneBRCA2“A small molecule inhibitor of LIG1 (L82) was tested for synthetic lethality application in XRCC1, BRCA2 or ATM deficient cancer cells.”0.98hgnc_dict_v1
geneBRCA2“BRCA2 deficient cells exhibited synthetic lethality upon treatment with a FEN1 inhibitor.”0.98hgnc_dict_v1
geneBRCA2“BRCA1 and BRCA2 genes mutations among high risk breast cancer patients in Jordan.”0.98hgnc_dict_v1
geneBRCA2“We identified a total of 14 point mutations and one deletion in BRCA1, BRCA2, and RAD50 genes from the BRCA panel analysis of breast cancer samples.”0.98hgnc_dict_v1
geneBRCA2“Soon after the discovery of BRCA1 and BRCA2 over 20 years ago, it became apparent that not all hereditary breast and/or ovarian cancer syndrome families were explained by germline variants in these cancer predisposing genes, suggesting that other such genes have yet to be discovered.”0.98hgnc_dict_v1
geneBRCA2“Three patients with B-ALL had heterozygous pathogenic mutations in TP53, BRCA1, and BRCA2; one patient with B-ALL had homozygous pathogenic mutation in PMS2; and one patient with T-ALL had LP homozygous mutation in AK2 that was associated with reticular dysgenesis.”0.98hgnc_dict_v1
geneBRCA2“Upregulated genes preferentially associated with other gene ontologies (GO) were, e.g., STAT1, MMP9, TOP2A, and BRCA2.”0.98hgnc_dict_v1
geneBRCA2“BRCA2 gene mutation and prostate cancer risk.”0.98hgnc_dict_v1
geneBRCA2“BACKGROUND: To systematically assess the prevalence of BRCA1 and BRCA2 gene mutations in women with Hereditary Breast and/or Ovarian Cancer (HBOC) in Arab countries and to describe the variability in the BRCA gene mutations in different regions of the Arab world.”0.98hgnc_dict_v1
geneBRCA2“METHODS: We have utilized a cost-effective targeted sequencing approach of high priority actionable BC genes (BRCA1, BRCA2, ERBB2 and TP53) in a homogeneous patient cohort from Bangladesh (n = 52) by using tumor and blood samples.”0.98hgnc_dict_v1
geneBRCA2“Prevalence, spectrum, and founder effect of BRCA1 and BRCA2 mutations in epithelial ovarian cancer from the Middle East.”0.98hgnc_dict_v1
geneBRCA2“This study aim to investigate the association of breast cancer risk and prognostic factors with single nucleotide variants of the BRCA1, BRCA2, DAPK1, MMP9, TOX3, and TP53 genes in Jordanian women.”0.98hgnc_dict_v1
geneBRCA2“The ratio of BRCA1 (77.3%) mutations was higher than BRCA2 mutations (22.7%).”0.98hgnc_dict_v1
geneBRCA2“The inheritance of mutated suppressor genes, such as BRCA1 and BRCA2, is acknowledged as an etiological factor in hereditary breast carcinoma (HBC).”0.98hgnc_dict_v1
geneBRCA2“The association of BRCA1 and BRCA2 mutations with prostate cancer risk, frequency, and mortality: A meta-analysis.”0.98hgnc_dict_v1
geneBRCA2“CDH1 copy number was associated with copy number loss of TP53, ATM, BRCA1, and BRCA2 (p < 0.001).”0.98hgnc_dict_v1
geneBRCA2“AKR1C3, BRCA1, BRCA2, CHGA, CYP19A1, HOXB13, KLK3, and PTEN contained the highest number of 3'UTR, 5'UTR, CDs, Intergenic, and Intronic variants.”0.98hgnc_dict_v1
geneBRCA2“Prevalence of BRCA1 and BRCA2 Mutations Among High-Risk Saudi Patients With Breast Cancer.”0.98hgnc_dict_v1
geneBRCA2“High prevalence of deleterious BRCA1 and BRCA2 germline mutations in arab breast and ovarian cancer patients.”0.98hgnc_dict_v1
geneBRCA2“Remarkably, pathogenic or likely pathogenic alleles in DNA repair/genomic instability genes (other than BRCA2, ATM and PALB2) accounted for at least 16.8, 11.1, 50 and 45.5% of mutation-positive breast, ovarian, thyroid and colorectal cancer patients, respectively.”0.98hgnc_dict_v1
geneBRCA2“Important cancer genes affected by CNVs included TP53, BRCA1, BRCA2, ERBB2, IDH1, and IDH2.”0.98hgnc_dict_v1
geneBRCA2“We also find that 18 VOUS BRCA1 and BRCA2 variants that are listed in BRCA Exchange are present at least once in the homozygous state in patients who lack features of Fanconi anemia.”0.98hgnc_dict_v1
geneBRCA2“Three patients presented with early onset of cancer, two had BRCA2 mutation c.7007G > A (p.Arg2336His) and one had a novel c.3425del (p.Leu1142Tyrfs*21) PALB2 mutation.”0.98hgnc_dict_v1
geneBRCA2“Ethnic differences of breast cancer genomics have prompted us to investigate the spectra of BRCA1 and BRCA2 mutations in different populations.”0.98hgnc_dict_v1
geneBRCA2“Inhibitors of poly(ADP-ribose) polymerase (PARP) are clinically used as single-agent therapy for tumors with BRCA1 or BRCA2 mutations.”0.98hgnc_dict_v1
geneBRCA2“At the same time, highly heterogeneous short structural variants were discovered in PTEN, RB1, and BRCA2 in all tumor and CTC samples.”0.98hgnc_dict_v1
geneBRCA2“In the present study, breast tumor samples from Canadian and Saudi Arabian patients were screened for known and unknown mutations within BRCA1 and BRCA2 as well as 21 additional genes, including, ATM, BARD1, CDH1, P53, EPCAM, MSH6, and RAD50, which have been implicated in breast and ovarian cancer predisposition.”0.98hgnc_dict_v1
geneBRCA2“Our analysis also reveals, in addition to mutations in known PD disease genes, the first instance of biallelic truncating BRCA2 mutation causing PD with normal bone marrow analysis.”0.98hgnc_dict_v1
geneBRCA2“Association of BRCA2 variants with cardiovascular disease in Saudi Arabia.”0.98hgnc_dict_v1
geneBRCA2“Lack of association of BRCA1 and BRCA2 variants with breast cancer in an ethnic population of Saudi Arabia, an emerging high-risk area.”0.98hgnc_dict_v1
geneBRCA2“The BRCA2 mutation was observed in 4 cases (40%) while no patient presented with the BRCA1 mutation.”0.98hgnc_dict_v1
geneBRCA2“Penetrance of BRCA1/BRCA2 specific gene mutations in Iranian women with breast cancer.”0.98hgnc_dict_v1
geneBRCA2“BRCA1 and BRCA2 mutations in breast cancer patients from Saudi Arabia.”0.98hgnc_dict_v1
geneBRCA2“BRCA1 and BRCA2 mutations in breast cancer patients from Saudi Arabia.”0.98hgnc_dict_v1