نتایج جستجو برای: brca2

تعداد نتایج: 4162  

Journal: :Journal of medical genetics 2014
Stefan Meyer Marc Tischkowitz Kate Chandler Alan Gillespie Jillian M Birch D Gareth Evans

Fanconi anaemia (FA) is an inherited condition characterised by congenital and developmental abnormalities and a strong cancer predisposition. In around 3-5% of cases FA is caused by biallelic mutations in the BRCA2 gene. Individuals heterozygous for BRCA2 mutations have an increased risk of inherited breast and ovarian cancer. We reviewed the mutation spectrum in BRCA2-associated FA, and the s...

Journal: :Cancer research 2005
Christine Abaji Isabelle Cousineau Abdellah Belmaaza

BRCA2 has been implicated in the maintenance of genome stability and RAD51-mediated homologous recombination repair of chromosomal double-strand breaks (DSBs), but its role in these processes is unclear. To gain more insight into its role in homologous recombination, we expressed wild-type BRCA2 in the well-characterized BRCA2-deficient human cell line CAPAN-1 containing, as homologous recombin...

Journal: :middle east journal of cancer 0
ahmad shabanizadeh department of anatomy, faculty of medicine, rafsanjan university of medical sciences, rafsanjan, iran hajar dahim department of pathology, shahid beheshti hospital, isfahan, iran reza salahshoor department of anatomy, faculty of medicine, kermanshah university of medical sciences, kermanshah, iran zahra taghipour department of anatomy, faculty of medicine, rafsanjan university of medical sciences, rafsanjan, iran mohammad mohsen taghavi department of anatomy, faculty of medicine, rafsanjan university of medical sciences, rafsanjan, iran hamidreza gafarineveh department of anatomy, faculty of medicine, rafsanjan university of medical sciences, rafsanjan, iran

background : ovarian cancer is the leading cause of death among gynecological cancers. changes in the methylation of brca1 and brca2 may be an effective mechanism for breast and ovarian cancer. this study evaluates the protein expression and methylation status of brca2 in iranian patients. methods : we assessed 60 mullerian-type ovarian cancers by methylation-specific pcr assays and immunohisto...

2016
Sadiya Malik Hiroko Saito Miho Takaoka Yoshio Miki Akira Nakanishi

BRCA2 is responsible for familial breast and ovarian cancer and has been linked to DNA repair and centrosome duplication. Here we analyzed the mechanism by which the centrosomal localization signal (CLS) of BRCA2 interacts with cytoplasmic dynein 1 to localize BRCA2 to the centrosome. In vitro pull-down assays demonstrated that BRCA2 directly binds to the cytoplasmic dynein 1 light intermediate...

2017
Stefan Meyer Adam Stevens Roberto Paredes Marion Schneider Michael J Walker Andrew J K Williamson Maria-Belen Gonzalez-Sanchez Stephanie Smetsers Vineet Dalal Hsiang Ying Teng Daniel J White Sam Taylor Joanne Muter Andrew Pierce Chiara de Leonibus Davy A P Rockx Martin A Rooimans Elaine Spooncer Stacey Stauffer Kajal Biswas Barbara Godthelp Josephine Dorsman Peter E Clayton Shyam K Sharan Anthony D Whetton

BRCA2 encodes a protein with a fundamental role in homologous recombination that is essential for normal development. Carrier status of mutations in BRCA2 is associated with familial breast and ovarian cancer, while bi-allelic BRCA2 mutations can cause Fanconi anemia (FA), a cancer predisposition syndrome with cellular cross-linker hypersensitivity. Cancers associated with BRCA2 mutations can a...

2015
Yasunaga Yoshikawa Masami Morimatsu Kazuhiko Ochiai Toshina Ishiguro-Oonuma Seiichi Wada Koichi Orino Kiyotaka Watanabe

BACKGROUND Mammary tumors are the most common tumor type in intact female dogs. Recently, the breast cancer 2 early onset (BRCA2) gene was proposed to be associated with tumorigenesis in dogs. The expression level of BRCA2 is important for its DNA repair function in mammalian cells, and its expression level is linked to tumorigenesis in mammary tissue. However, the expression of canine BRCA2 in...

Journal: :The Journal of veterinary medical science 2003
Toshina Oonuma Masami Morimatsu Kazuhiko Ochiai Bunei Syuto

Mammary tumors are common in cats. As mutations in human Brca2 confer an increased risk of breast cancer, the full-length cDNA of the feline homologue of Brca2 was sequenced to obtain a basis for studying the relationship between its function and susceptibility to mammary tumors. The feline Brca2 cDNA is 10 kb long, and encodes 3,371 amino acids. The amino acid sequence of feline Brca2 shares l...

Journal: :Cell 2001
Lihua Y Marmorstein Alexander V Kinev Gordon K.T Chan Daniel A Bochar Hideo Beniya Jonathan A Epstein Tim J Yen Ramin Shiekhattar

Germline mutations of the human BRCA2 gene confer susceptibility to breast cancer. Although the function of the BRCA2 protein remains to be determined, murine cells homozygous for BRCA2 inactivation display chromosomal aberrations. We have isolated a 2 MDa BRCA2-containing complex and identified a structural DNA binding component, designated as BRCA2-Associated Factor 35 (BRAF35). BRAF35 contai...

Journal: :Proceedings of the National Academy of Sciences of the United States of America 2001
F Xia D G Taghian J S DeFrank Z C Zeng H Willers G Iliakis S N Powell

Carriers of BRCA2 germline mutations are at high risk to develop early-onset breast cancer. The underlying mechanisms of how BRCA2 inactivation predisposes to malignant transformation have not been established. Here, we provide direct functional evidence that human BRCA2 promotes homologous recombination (HR), which comprises one major pathway of DNA double-strand break repair. We found that up...

Journal: :Proceedings of the National Academy of Sciences of the United States of America 1999
B H Spain C J Larson L S Shihabuddin F H Gage I M Verma

BRCA2 mutations predispose carriers mainly to breast cancer. The vast majority of BRCA2 mutations are predicted to result in a truncated protein product. The smallest known cancer-associated deletion removes from the C terminus only 224 of the 3,418 residues constituting BRCA2, suggesting that these terminal amino acids are crucial for BRCA2 function. A series of green fluorescent protein (GFP)...

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