نتایج جستجو برای: brca1 protein

تعداد نتایج: 1240933  

Journal: :Oncology reports 2006
Barbara Quaresima Maria C Faniello Francesco Baudi Telma Crugliano Maddalena Di Sanzo Giovanni Cuda Francesco Costanzo Salvatore Venuta

Women with BRCA1 gene mutations have an increased risk for breast and ovarian cancer (BOC). Classification of missense variants as neutral or disease causing is still a challenge and has major implications for genetic counseling. BRCA1 is organized in an N-terminal ring-finger domain and two BRCT (breast cancer C-terminus) domains, involved in protein-protein interaction. The integrity of the C...

2015
Ankita Jhuraney Aneliya Velkova Randall C Johnson Bailey Kessing Renato S Carvalho Phillip Whiley Amanda B Spurdle Maaike P G Vreeswijk Sandrine M Caputo Gael A Millot Ana Vega Nicolas Coquelle Alvaro Galli Diana Eccles Marinus J Blok Tuya Pal Rob B van der Luijt Marta Santamariña Pena Susan L Neuhausen Talia Donenberg Eva Machackova Simon Thomas Maxime Vallée Fergus J Couch Sean V Tavtigian J N Mark Glover Marcelo A Carvalho Lawrence C Brody Shyam K Sharan Alvaro N Monteiro

BACKGROUND Inactivating germline mutations in the tumour suppressor gene BRCA1 are associated with a significantly increased risk of developing breast and ovarian cancer. A large number (>1500) of unique BRCA1 variants have been identified in the population and can be classified as pathogenic, non-pathogenic or as variants of unknown significance (VUS). Many VUS are rare missense variants leadi...

Journal: :Proceedings of the National Academy of Sciences of the United States of America 2001
J D Parvin

T breastand ovarian-specific tumor suppressor protein, BRCA1, has been implicated in regulating the nuclear processes of repair of damaged DNA, chromatin remodeling, and transcription. Although many have sought specific DNA sequences bound by BRCA1, no such sequences have been reported. In new research described in this issue of PNAS (1), BRCA1 protein is shown to bind to DNA with high affinity...

Journal: :Histology and histopathology 2009
A Mangia A Chiriatti S Tommasi F Menolascina S Petroni F A Zito G Simone F Schittulli A Paradiso

The aim of the study was to evaluate the performance of immunohistochemical MS110 expression in a series of familial and sporadic breast cancer patients. An immunohistochemical study was performed on TMA samples from 93 sporadic and 94 familial breast cancer patients with (7/94) and without BRCA1 germline mutations. BRCA1 protein expression level was evaluated using the monoclonal MS110 antibod...

Journal: :Cell 1999
D.Paul Harkin James M Bean David Miklos Young-Han Song Vivi B Truong Christoph Englert Fred C Christians Leif W Ellisen Shyamala Maheswaran Jonathan D Oliner Daniel A Haber

The breast cancer susceptibility gene BRCA1 encodes a protein implicated in the cellular response to DNA damage, with postulated roles in homologous recombination as well as transcriptional regulation. To identify downstream target genes, we established cell lines with tightly regulated inducible expression of BRCA1. High-density oligonucleotide arrays were used to analyze gene expression profi...

Journal: :Asian Pacific journal of cancer prevention : APJCP 2017
Mohit Kumar Ram Krishna Sahu Aditi Goyal Sonal Sharma Navneet Kaur Ravi Mehrotra Usha Rani Singh Suresh Hedau

Introduction: Considering the increasing trend in incidence rates, morbidity and mortality of breast cancer, there is an urgent need to identify and validate new biomarkers for early detection and better management. The purpose of the study was to investigate BRCA1 protein expression and promoter methylation of the BRCA1 gene and their association with molecular subtypes based on estrogen recep...

Journal: :Human molecular genetics 2002
Alexandra Folias Mara Matkovic Donald Bruun Sonja Reid James Hejna Markus Grompe Alan D'Andrea Robb Moses

Fanconi anemia (FA) is a rare autosomal recessive disease characterized by skeletal defects, anemia, chromosomal instability and increased risk of leukemia. At the cellular level FA is characterized by increased sensitivity to agents forming interstrand crosslinks (ICL) in DNA. Six FA genes have been cloned and interactions among individual FANC proteins have been found. The FANCD2 protein co-l...

Journal: :Cancer research 2008
Elizabeth M Swisher Wataru Sakai Beth Y Karlan Kaitlyn Wurz Nicole Urban Toshiyasu Taniguchi

Although ovarian carcinomas with mutated BRCA1 or BRCA2 are sensitive to platinum compounds, such carcinomas eventually develop platinum resistance. Previously, we showed that acquired resistance to cisplatin in BRCA2-mutated tumors can be mediated by secondary intragenic mutations in BRCA2 that restore the wild-type BRCA2 reading frame. Here, we show that secondary mutations of BRCA1 also occu...

Journal: :Cancer research 2009
Henne Holstege Simon A Joosse Conny Th M van Oostrom Petra M Nederlof Annemieke de Vries Jos Jonkers

Approximately half of all hereditary breast cancers are compromised in their DNA repair mechanisms due to loss of BRCA1 or BRCA2 function. Previous research has found a strong correlation between BRCA mutation and TP53 mutation. However, TP53 mutation status is often indirectly assessed by immunohistochemical staining of accumulated p53 protein. We sequenced TP53 exons 2 to 9 in 21 BRCA1-relate...

Journal: :Philosophical transactions of the Royal Society of London. Series B, Biological sciences 2004
Shridar Ganesan Daniel P Silver Ronny Drapkin Roger Greenberg Jean Feunteun David M Livingston

Breast cancer, early onset 1 (BRCA1) encodes a nuclear protein that participates in breast and ovarian cancer suppression. The molecular basis for the gender and tissue specificity of the BRCA1 cancer syndrome is unknown. Recently, we observed that a fraction of BRCA1 in female cells is localized on the inactive X chromosome (Xi). Chromatin immunoprecipitation (ChIP) experiments have demonstrat...

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