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29 769 (0,154s)

Result

Strong preference of BRCA1 protein to topologically constrained non-B DNA structures

Background: The breast and ovarian cancer susceptibility gene BRCA1 encodes a multifunctional tumor suppressor protein BRCA1, which is involved in regulating cellular and chromatin remodeling. BRCA1 protein

BO - Biofyzika

  • 2016
  • Jx
  • Link
Result

The central region of BRCA1 binds preferentially to supercoiled DNA

BRCA1 is a multifunctional tumor suppressor protein with implications in regulating processes such as cell cycle, transcription, DNA repair and chromatin remodeling with preferential binding on superhelical DNA....

BO - Biofyzika

  • 2009
  • Jx
Result

Novel germline BRCA1 and BRCA2 mutations in breast and breast/ovarian cancer families from the Czech Republic

Germline mutations in breast cancer susceptibility genes, BRCA1 and BRCA2, are responsible for a substantial proportion of high-risk breast and breast/ovarian cancer families. To characterize the spectrum of BRCA1 and BRCA2 mutatio ...

FD - Onkologie a hematologie

  • 2001
  • Jx
Result

Detection of germ line mutations in the BRCA1 gene by the protein truncation test.

BRCA1, germ-line mutations, PTT test.

FD - Onkologie a hematologie

  • 1999
  • D
Result

Mutational analysis of BRCA1 gene in the families with hereditary breast and ovarian cancers.

BRCA1, cancer family, breast cancer, ovarian cancer, protein truncation test, mutational analysis.

FP - Ostatní lékařské obory

  • 2000
  • Jx
Result

The BRCA1 alternative splicing variant ?14-15 with an in-frame deletion of part of the regulatory serine-containing domain (SCD) impairs the DNA repair capacity in MCF-7 cells

The BRCA1 gene codes for a protein involved in the DNA double strand break (DDSB) repair. Alongside the dominant full-length splicing form of BRCA1, numerous of the resulting protein in the BRCA1-regulated...

FD - Onkologie a hematologie

  • 2012
  • Jx
  • Link
Result

A role of the 53BP1 protein in genome protection: structural and functional characteristics of 53BP1-dependent DNA repair

. These proteins are members of two protein complexes: 53BP1-RIF1-PTIP and BRCA1-CtIP, which. It is evident that proteins involved in DNA repair are compartmentalized in not only), but a specific clustering of thes...

Cell biology

  • 2019
  • Jimp
  • Link
Result

A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor-negative breast cancer in the general population

Germline BRCA1 mutations predispose to breast cancer. To identify genetic modifiers of this risk, we performed a genome-wide association study in 1,193 individuals with BRCA1 mutations who were diagnosed with invasive breast cancer ...

FD - Onkologie a hematologie

  • 2010
  • Jx
Result

Diagnostic Guidelines for High-Resolution Melting Curve (HRM) Analysis: An Interlaboratory Validation of BRCA1 Mutation Scanning Using the 96-Well LightScanner (TM)

Genetic analysis of BRCA1 by sequencing is often preceded by a scanning method like denaturing gradient gel electrophoresis (DGGE), protein truncation test (PTT) or DHPLC. High-resolution melting curve (HRM) analysis is a promising ...

EB - Genetika a molekulární biologie

  • 2009
  • Jx
Result

Contribution of massive parallel sequencing to diagnosis of hereditary ovarian cancer in the Czech Republic

development. Mutations in BRCA1, BRCA2, BRIP1, and Lynch syndrome genes (RAD51C, RAD51D, respectively. The most frequently mutated genes were BRCA1 and BRCA2. The overall frequency......

Oncology

  • 2019
  • JSC
  • Link
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