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Exon-Specific Targeted Analysis of and Mutations in Bangladeshi Breast Cancer Patients [PDF]

open access: yesCancer Informatics
Background: Breast cancer (BC) is a leading cause of death among women. Pathogenic variations (PVs) in BRCA1 and BRCA2 genes increase the risk of hereditary and Triple-negative breast cancer (TNBC). Despite its great importance, NGS-based genetic testing
Shuvra Dutta   +4 more
doaj   +2 more sources

BRCA2 Regulates Transcription Elongation by RNA Polymerase II to Prevent R-Loop Accumulation

open access: yesCell Reports, 2018
The controlled release of RNA polymerase II (RNAPII) from promoter-proximal pausing (PPP) sites is critical for transcription elongation in metazoans. We show that the human tumor suppressor BRCA2 interacts with RNAPII to regulate PPP release, thereby ...
Xavier Renaudin, Ashok R Venkitaraman
exaly   +3 more sources

BRCA-mutated gastric adenocarcinomas are associated with chromosomal instability and responsiveness to platinum-based chemotherapy [PDF]

open access: yesJournal of Pathology and Translational Medicine, 2023
Background Homologous recombination defect is an important biomarker of chemotherapy in certain tumor types, and the presence of pathogenic or likely pathogenic mutations involving BRCA1 or BRCA2 (p-BRCA) mutations is the most well-established marker for
Ji Hyun Oh   +4 more
doaj   +1 more source

BRCA2 gene mutation in cancer

open access: yesMedicine, 2022
Breast cancer susceptibility gene 2 (BRCA2) is the main gene associated with hereditary breast cancers. However, a mutation in BRCA2 has also been found in other tumors, such as ovarian, pancreatic, thyroid, gastric, laryngeal, and prostate cancers. In this review, we discuss the biological functions of BRCA2 and the role of BRCA2 mutations in tumor ...
Chunbao Xie   +5 more
openaire   +2 more sources

BRCA1, BRCA2 and primary ovarian insufficiency [PDF]

open access: yesE3S Web of Conferences, 2020
BRCA1 and BRCA2 genes belong to the family of ataxia-telangiectasia-mutated (ATM)-mediated DNA DSB repair genes that play a critical role in the DNA double-strand break (DSB) repair.
Zhang Yinuo
doaj   +1 more source

BRCA2 and TP53 collaborate in tumorigenesis in zebrafish. [PDF]

open access: yesPLoS ONE, 2014
Germline mutations in the tumor suppressor genes BRCA2 and TP53 significantly influence human cancer risk, and cancers from humans who inherit one mutant allele for BRCA2 or TP53 often display loss of the wildtype allele.
Heather R Shive   +4 more
doaj   +1 more source

Germline sequence variants contributing to cancer susceptibility in South African breast cancer patients of African ancestry

open access: yesScientific Reports, 2022
Since the discovery of the breast cancer susceptibility genes, BRCA1 and BRCA2, various other genes conferring an increased risk for breast cancer have been identified.
Dewald Eygelaar   +2 more
doaj   +1 more source

Investigation of the relationship of TNFRSF11A gene polymorphisms with breast cancer development and metastasis risk in patients with BRCA1 or BRCA2 pathogenic variants living in the Trakya region of Turkey

open access: yesBalkan Journal of Medical Genetics, 2021
Modifying genes play an exclusive role in the genetic regulation of the risk of breast cancer development in women with a pathogenic variation of BRCA1 or BRCA2.
Özdemir K   +7 more
doaj   +1 more source

Clinicopathological characteristics of -associated breast cancer in Asian patients [PDF]

open access: yesJournal of Pathology and Translational Medicine, 2020
BRCA1/2 germline mutations account for the majority of hereditary breast cancers. Since the identification of the BRCA genes, several attempts have been made to define the clinicopathological characteristics of BRCA-associated breast cancer in comparison
Eun-Kyu Kim, So Yeon Park, Sung-Won Kim
doaj   +1 more source

Frequency of BRCA1 and BRCA2 mutations in ovarian cancer patients in South-East Poland

open access: yesHereditary Cancer in Clinical Practice, 2022
Background Mutations in BRCA1 and BRCA2 genes are well-established risk factors of breast and ovarian cancer. In our former study, we observed that approximately 6% of unselected ovarian cancer patients in the region of Podkarpacie (South-East Poland ...
Andrzej Jasiewicz   +8 more
doaj   +1 more source

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