Results 71 to 80 of about 158,234 (188)
A Case of Triple-Negative Breast Cancer with Germline Pathogenic Variants in Both BRCA1 and BRCA2
Case Reports in Oncology, 2021 We report a rare case of hereditary breast and ovarian cancer syndrome (HBOC) with pathogenic variants in both BRCA1 and BRCA2. The patient was a 78-year-old woman who visited the hospital after noticing a lump in her left breast 6 months before, which ...
Miyuki Kitahara +3 more
doaj +1 more source
A theory for the tissue specificity of BRCA1/2 related and other hereditary cancers [PDF]
, 2010 Women who inherit a defective BRCA1 or BRCA2 gene have risks for breast and ovarian cancer that are so high and seem so selective that many mutation carriers choose to have prophylactic surgery. There has been much conjecture to explain such apparently
Bernard Friedenson
core +1 more source
Interplay among BRCA1, SIRT1, and Survivin during BRCA1-Associated Tumorigenesis [PDF]
Molecular Cell, 2008 Germline mutations of BRCA1 predispose women to breast and ovarian cancers. However, the downstream mediators of BRCA1 function in tumor suppression remain elusive. We found that human BRCA1-associated breast cancers have lower levels of SIRT1 than their normal controls. We further demonstrated that mammary tumors from Brca1 mutant mice have low levels
Wang, Rui-Hong +14 more
openaire +2 more sources
Functional analysis of BARD1 missense variants in homology-directed repair and damage sensitivity [PDF]
, 2019 The BARD1 protein, which heterodimerizes with BRCA1, is encoded by a known breast cancer susceptibility gene. While several BARD1 variants have been identified as pathogenic, many more missense variants exist that do not occur frequently enough to assign
Adamovich, Aleksandra I +10 more
core +3 more sources
PALB2 self-interaction controls homologous recombination. [PDF]
, 2012 PALB2 is essential for BRCA2 anchorage to nuclear structures and for homologous recombinational repair of DNA double-strand breaks. Here, we report that the N-terminal coiled-coil motif of PALB2 regulates its self-association and homologous recombination.
Buisson, Rémi, Masson, Jean-Yves
core +1 more source
The many-faced KSR1: a tumor suppressor in breast cancer [PDF]
, 2015 Emerging evidence supports the dual function of kinase suppressor of Ras 1 (KSR1) as an active kinase and a scaffold, although it has been extensively referred as a pseudokinase, due to the absence of key residues in its catalytic domain [1, 2].
Giamas, Georgios +2 more
core +2 more sources
Balkan Journal of Medical GeneticsThe purpose of our study is to expedite cancer diagnosis through the development of software for rapid detection of hereditary breast cancer (BC) with negative BRCA1/2 on MATLAB, utilizing a fuzzy logic system with several variants of genes associated ...
Senturk N +8 more
doaj +1 more source
Molecular & Cellular Oncology, 2019 Mutations caused by DNA damage are a main driver of cancer. We discovered that recognition of newly synthesised histone H4 directs breast cancer type 1 susceptibility protein (BRCA1) to post-replicative chromatin.
Till Bartke, Anja Groth
doaj +1 more source
Cells, 2020 Research on repurposing the old alcohol-aversion drug disulfiram (DSF) for cancer treatment has identified inhibition of NPL4, an adaptor of the p97/VCP segregase essential for turnover of proteins involved in multiple pathways, as an unsuspected cancer ...
Dusana Majera +5 more
doaj +1 more source
Role of Single Nucleotide Polymorphisms in BRCA1 and BRCA2 Genes Relative to Previous Studies in Pakistan in the Prognosis of Breast Cancer [PDF]
Journal of Liaquat National HospitalBreast cancer is a complex disease characterized by a myriad of genetic alterations. Single nucleotide polymorphisms are particularly relevant due to small allelic variations.
Saba Munir +6 more
doaj +1 more source