| Featuring BRCA1 and BRCA2 germline mutational landscape from Asturias (North Spain). | Featuring BRCA1 and BRCA2 germline mutational landscape from Asturias (North Spain).
Pitiot AS, Blay P, Díaz-Navarro A, Fernández-Arrojo S, Romero R, Álvarez-Eguiluz Á, Alvarado MG, Álvarez N, García-Teijido P, Fernández Y, Palacio I, Puente XS, Balbín M. | 10/10/2024 |
| Mutation spectra of the BRCA1/2 genes in human breast and ovarian cancer and germline. | Mutation spectra of the BRCA1/2 genes in human breast and ovarian cancer and germline.
Koi Y, Watanabe A, Kawasaki A, Ideo S, Matsutani N, Miyashita K, Shioi S, Tokunaga E, Shimokawa M, Nakatsu Y, Kuraoka I, Oda S. | 09/30/2024 |
| Incidence of endometrial cancer in BRCA mutation carriers. | Incidence of endometrial cancer in BRCA mutation carriers.
Kotsopoulos J, Lubinski J, Huzarski T, Bychkovsky BL, Moller P, Kim RH, Tung N, Eisen A, Foulkes W, Singer CF, Aeilts A, Neuhausen SL, Bordeleau L, Karlan B, Fruscio R, Eng C, Olopade O, Zakalik D, Couch F, Y Cajal TR, Sun P, Gronwald J, Narod SA. | 09/24/2024 |
| Hypermethylation of the BRCA2 gene promoter and its co-hypermethylation with the BRCA1 gene promoter in patients with breast cancer. | Hypermethylation of the BRCA2 gene promoter and its co-hypermethylation with the BRCA1 gene promoter in patients with breast cancer.
Fishchuk L, Rossokha Z, Lobanova O, Cheshuk V, Vereshchako R, Vershyhora V, Medvedieva N, Dubitskaa O, Gorovenko N., Free PMC Article | 09/4/2024 |
| Distinct mobility patterns of BRCA2 molecules at DNA damage sites. | Distinct mobility patterns of BRCA2 molecules at DNA damage sites.
Paul MW, Aaron J, Wait E, Van Genderen RM, Tyagi A, Kabbech H, Smal I, Chew TL, Kanaar R, Wyman C., Free PMC Article | 08/22/2024 |
| DSS1 restrains BRCA2's engagement with dsDNA for homologous recombination, replication fork protection, and R-loop homeostasis. | DSS1 restrains BRCA2's engagement with dsDNA for homologous recombination, replication fork protection, and R-loop homeostasis.
Huang Y, Li W, Foo T, Ji JH, Wu B, Tomimatsu N, Fang Q, Gao B, Long M, Xu J, Maqbool R, Mukherjee B, Ni T, Alejo S, He Y, Burma S, Lan L, Xia B, Zhao W., Free PMC Article | 08/22/2024 |
| Hereditary breast cancer next-generation sequencing panel evaluation in the south region of Brazil: A novel BRCA2 candidate pathogenic variant is reported. | Hereditary breast cancer next-generation sequencing panel evaluation in the south region of Brazil: A novel BRCA2 candidate pathogenic variant is reported.
Duarte CAB, Dos Santos CA, de Oliveira CDD, Spautz CC, Sumita LM, Nakatani SM., Free PMC Article | 08/12/2024 |
| [Prostate cancer with BRCA2 pathogenic mutation: a clinicopathological analysis]. | [Prostate cancer with BRCA2 pathogenic mutation: a clinicopathological analysis].
Wang DH, Yin WL, Pan XY, Zhang MN, Nie L, Chen XQ, Zeng H, Zhou Q, Chen N. | 08/7/2024 |
| The BRCA2 R2645G variant increases DNA binding and induces hyper-recombination. | The BRCA2 R2645G variant increases DNA binding and induces hyper-recombination.
Alvaro-Aranda L, Petitalot A, Djeghmoum Y, Panigada D, Singh JK, Ehlén Å, Vugic D, Martin C, Miron S, Contreras-Perez A, Nhiri N, Boucherit V, Lafitte P, Dumoulin I, Quiles F, Rouleau E, Jacquet E, Feliubadaló L, Del Valle J, Sharan SK, Stoppa-Lyonnet D, Zinn-Justin S, Lázaro C, Caputo SM, Carreira A., Free PMC Article | 08/1/2024 |
| CRIP1 cooperates with BRCA2 to drive the nuclear enrichment of RAD51 and to facilitate homologous repair upon DNA damage induced by chemotherapy. | CRIP1 cooperates with BRCA2 to drive the nuclear enrichment of RAD51 and to facilitate homologous repair upon DNA damage induced by chemotherapy.
Sun H, Zhou R, Zheng Y, Wen Z, Zhang D, Zeng D, Wu J, Huang Z, Rong X, Huang N, Sun L, Bin J, Liao Y, Shi M, Liao W., Free PMC Article | 07/25/2024 |
| BRCA1/2 Haploinsufficiency: Exploring the Impact of Losing one Allele. | BRCA1/2 Haploinsufficiency: Exploring the Impact of Losing one Allele.
Minello A, Carreira A. | 07/3/2024 |
| Subset of retinoblastoma tumours is associated with BRCA1/2 mutations. | Subset of retinoblastoma tumours is associated with BRCA1/2 mutations.
Kim YJ, Park HS, Youk J, Han JW, Byeon SH, Kim SS, Ju YS, Lee CS. | 07/2/2024 |
| Presence of crown-like structures in breast adipose tissue; differences between healthy controls, BRCA1/2 gene mutation carriers and breast cancer patients. | Presence of crown-like structures in breast adipose tissue; differences between healthy controls, BRCA1/2 gene mutation carriers and breast cancer patients.
Zwager MC, Holt-Kedde I, Timmer-Bosscha H, de Bock GH, Werker PMN, Schröder CP, van der Vegt B, Arjaans M. | 06/28/2024 |
| Germline biallelic BRCA2 pathogenic variants and medulloblastoma: an international cohort study. | Germline biallelic BRCA2 pathogenic variants and medulloblastoma: an international cohort study.
Kastellan S, Kalb R, Sajjad B, McReynolds LJ, Giri N, Samuel D, Milde T, Elbracht M, Holzhauer S, Niewisch MR, Kratz CP., Free PMC Article | 05/1/2024 |
| Preliminary insights on the mutational spectrum of BRCA1 and BRCA2 genes in Pakhtun ethnicity breast cancer patients from Khyber Pakhtunkhwa (KP), Pakistan. | Preliminary insights on the mutational spectrum of BRCA1 and BRCA2 genes in Pakhtun ethnicity breast cancer patients from Khyber Pakhtunkhwa (KP), Pakistan.
Ahmad H, Ali A, Ali R, Khalil AT, Khan I, Khan MM, Alorini M., Free PMC Article | 04/27/2024 |
| Beyond BRCA: Diagnosis and management of homologous recombination repair deficient pancreatic cancer. | Beyond BRCA: Diagnosis and management of homologous recombination repair deficient pancreatic cancer.
LaRose M, Manji GA, Bates SE. | 04/25/2024 |
| The Tumor Suppressor BRCA1/2, Cancer Susceptibility and Genome Instability in Gynecological and Mammary Cancers. | The Tumor Suppressor BRCA1/2, Cancer Susceptibility and Genome Instability in Gynecological and Mammary Cancers.
Oubaddou Y, Ben Ali F, Oubaqui FE, Qmichou Z, Bakri Y, Ameziane El Hassani R., Free PMC Article | 04/24/2024 |
| Longitudinal profiling identifies co-occurring BRCA1/2 reversions, TP53BP1, RIF1 and PAXIP1 mutations in PARP inhibitor-resistant advanced breast cancer. | Longitudinal profiling identifies co-occurring BRCA1/2 reversions, TP53BP1, RIF1 and PAXIP1 mutations in PARP inhibitor-resistant advanced breast cancer.
Harvey-Jones E, Raghunandan M, Robbez-Masson L, Magraner-Pardo L, Alaguthurai T, Yablonovitch A, Yen J, Xiao H, Brough R, Frankum J, Song F, Yeung J, Savy T, Gulati A, Alexander J, Kemp H, Starling C, Konde A, Marlow R, Cheang M, Proszek P, Hubank M, Cai M, Trendell J, Lu R, Liccardo R, Ravindran N, Llop-Guevara A, Rodriguez O, Balmana J, Lukashchuk N, Dorschner M, Drusbosky L, Roxanis I, Serra V, Haider S, Pettitt SJ, Lord CJ, Tutt ANJ. | 04/15/2024 |
| Deleterious and ethnic-related BRCA1/2 mutations in tissue and blood of Egyptian colorectal cancer patients and its correlation with human papillomavirus. | Deleterious and ethnic-related BRCA1/2 mutations in tissue and blood of Egyptian colorectal cancer patients and its correlation with human papillomavirus.
Youssef ASE, Zekri ARN, Mohanad M, Loutfy SA, Abdel Fattah NF, Elberry MH, El Leithy AA, El-Touny A, Rabie AS, Shalaby M, Hanafy A, Lotfy MM, El-Sisi ER, El-Sayyad GS, Nassar A., Free PMC Article | 04/12/2024 |
| Contralateral breast cancer risk in patients with breast cancer and a germline-BRCA1/2 pathogenic variant undergoing radiation. | Contralateral breast cancer risk in patients with breast cancer and a germline-BRCA1/2 pathogenic variant undergoing radiation.
van Barele M, Akdeniz D, Heemskerk-Gerritsen BAM, Genepso, Andrieu N, Noguès C, HEBON, van Asperen CJ, Wevers M, Ausems MGEM, de Bock GH, Dommering CJ, Gómez-García EB, van Leeuwen FE, Mooij TM, EMBRACE, Easton DF, Antoniou AC, Evans DG, Izatt L, Tischkowitz M, Frost D, Brewer C, Olah E, Simard J, Singer CF, Thomassen M, Kast K, Rhiem K, Engel C, de la Hoya M, Foretová L, Jakubowska A, Jager A, Sattler MGA, Schmidt MK, Hooning MJ., Free PMC Article | 03/21/2024 |
| CRISPR/Cas9-mediated knock-in of BRCA1/2 mutations restores response to olaparib in pancreatic cancer cell lines. | CRISPR/Cas9-mediated knock-in of BRCA1/2 mutations restores response to olaparib in pancreatic cancer cell lines.
Witz A, Dardare J, Francois A, Husson M, Rouyer M, Demange J, Merlin JL, Gilson P, Harlé A., Free PMC Article | 03/15/2024 |
| Functional analysis and clinical classification of 462 germline BRCA2 missense variants affecting the DNA binding domain. | Functional analysis and clinical classification of 462 germline BRCA2 missense variants affecting the DNA binding domain.
Hu C, Huang H, Na J, Lumby C, Abozaid M, Holdren MA, Rao TJ, Karam R, Pesaran T, Weyandt JD, Csuy CM, Seelaus CA, Young CC, Fulk K, Heidari Z, Morais Lyra PC Jr, Couch RE, Persons B, Polley EC, Gnanaolivu RD, Boddicker NJ, Monteiro ANA, Yadav S, Domchek SM, Richardson ME, Couch FJ., Free PMC Article | 03/11/2024 |
| BRCA1, BRCA2, and TP53 germline and somatic variants and clinicopathological characteristics of Brazilian patients with epithelial ovarian cancer. | BRCA1, BRCA2, and TP53 germline and somatic variants and clinicopathological characteristics of Brazilian patients with epithelial ovarian cancer.
Richau CS, Scherer NM, Matta BP, de Armas EM, de Barros Moreira FC, Bergmann A, Pereira Chaves CB, Boroni M, Dos Santos ACE, Moreira MAM., Free PMC Article | 03/4/2024 |
| Central nervous system metastases in breast cancer patients with germline BRCA pathogenic variants compared to non-carriers: a matched-pair analysis. | Central nervous system metastases in breast cancer patients with germline BRCA pathogenic variants compared to non-carriers: a matched-pair analysis.
Ben-Zion Berliner M, Yust-Katz S, Lavie I, Goldberg Y, Kedar I, Yerushalmi R., Free PMC Article | 03/1/2024 |
| Prevalence and spectrum of germline BRCA1 and BRCA2 in a cohort of ovarian cancer patients from the Salento peninsula (Southern Italy): a matter of preventive health. | Prevalence and spectrum of germline BRCA1 and BRCA2 in a cohort of ovarian cancer patients from the Salento peninsula (Southern Italy): a matter of preventive health.
De Matteis E, Tumolo MR, Tarantino P, Ciccarese M, Grassi T, Bagordo F, De Giorgio MR, Rizzo E, Ronzino G., Free PMC Article | 02/27/2024 |