Results 31 to 40 of about 44,727 (269)

Determination of BRCA1 and BRCA2 Gene Mutations in Patients at Risk of Breast and/or Ovarian Cancer by Next Generation Sequencing in the Isparta Region

open access: yesBatı Karadeniz Tıp Dergisi, 2021
and/or ovarian cancers. BRCA1 / BRCA2 genes are associated with 20-25% of these diseases. Thespectrum and prevalence of BRCA1 and BRCA2 gene mutations are different in each population.Determining the prevalence of pathogenic mutations in susceptibility ...
Muhammet Yusuf Tepebaşı   +3 more
doaj   +1 more source

Log odds of carrying an Ancestral Mutation in BRCA1 or BRCA2 for a defined personal and family history in an Ashkenazi Jewish woman (LAMBDA) [PDF]

open access: yes, 2003
INTRODUCTION: Ancestral mutations in BRCA1 and BRCA2 are common in people of Ashkenazi Jewish descent and are associated with a substantially increased risk of breast and ovarian cancer.
Ellen Solomon   +30 more
core   +1 more source

Genetic predisposition to male breast cancer in Poland

open access: yesBMC Cancer, 2021
Background Breast cancer in men accounts for fewer than 1 % of all breast cancer cases diagnosed in men and women. Genes which predispose to male breast cancer include BRCA1 and BRCA2. The role of other genes is less clear.
Marek Szwiec   +12 more
doaj   +1 more source

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 [PDF]

open access: yes, 2022
Background: Detecting pathogenic intronic variants resulting in aberrant splicing remains a challenge in routine genetic testing. We describe germline whole-exome sequencing (WES) analyses and apply in silico predictive tools of familial ovarian cancer ...
El Haffaf, Z   +19 more
core   +1 more source

Use of DNA-damaging agents and RNA pooling to assess expression profiles associated with BRCA1 and BRCA2 mutation status in familial breast cancer patients. [PDF]

open access: yesPLoS Genetics, 2010
A large number of rare sequence variants of unknown clinical significance have been identified in the breast cancer susceptibility genes, BRCA1 and BRCA2.
Logan C Walker   +5 more
doaj   +1 more source

Overexpression of BRCA2 gene in sporadic breast tumours [PDF]

open access: yesOncogene, 1999
The breast cancer susceptibility gene BRCA2 is expressed in a wide range of tissues as an 11-kb mRNA transcript that encodes a 3418-amino acid protein involved in the response to DNA damage. To obtain better a molecular characterization of BRCA2 expression in sporadic breast cancer, we quantified BRCA2 mRNA by means of RT - PCR in a large series of ...
I, Bièche, C, Noguès, R, Lidereau
openaire   +2 more sources

Evaluation of a candidate breast cancer associated SNP in ERCC4 as a risk modifier in BRCA1 and BRCA2 mutation carriers. Results from the Consortium of Investigators of Modifiers of BRCA1/BRCA2 (CIMBA) [PDF]

open access: yes, 2009
BACKGROUND: In this study we aimed to evaluate the role of a SNP in intron I of the ERCC4 gene (rs744154), previously reported to be associated with a reduced risk of breast cancer in the general population, as a breast cancer risk modifier in BRCA1 and ...
Rodriguez, GC   +809 more
core   +1 more source

BRCA-deficient metastatic prostate cancer has an adverse prognosis and distinct genomic phenotypeResearch in context

open access: yesEBioMedicine, 2023
Summary: Background: Genomic alterations in DNA damage response (DDR) genes are common in metastatic castration-resistant prostate cancer (mCRPC). Understanding how these genomic events impact prognosis and/or treatment response is vital for optimising ...
Heidi Fettke   +16 more
doaj   +1 more source

BRCA2 and Smad3 synergize in regulation of gene transcription [PDF]

open access: yesOncogene, 2002
Smad3 is an essential component in the intracellular signaling of transforming growth factor-beta (TGFbeta), which is a potent inhibitor of tumor cell proliferation. BRCA2 is a tumor suppressor involved in early onset of breast, ovarian and prostate cancer. Both Smad3 and BRCA2 possess transcription activation domains.
Olena, Preobrazhenska   +6 more
openaire   +2 more sources

Hypersensitivity of BRCA1 heterozygote lymphoblastoid cells to gamma radiation and PARP inhibitors [PDF]

open access: yes, 2013
This article is made available through the Brunel Open Access Publishing Fund. Copyright @ 2013 Bourton EC, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use ...
Bourton, EC   +5 more
core   +1 more source

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