Homologous recombination deficiency (HRD) is a phenotype that is characterized by the inability of a cell to effectively repair DNA double-strand breaks using the homologous recombination repair (HRR) pathway. Loss-of-function genes involved in this ...

Homologous Repair Deficiency (HRD) is the result of genetic alteration (s) in HR genes (eg, BRCA1, BRCA2 and others) or epigenetic factors. Dysfunctional HR genes result in genome-wide errors and tumorigenesis.

Jun 1, 2023 · Homologous recombination deficiency (HRD) causes faulty double-strand break repair and is a prevalent cause of tumorigenesis. However, the incidence of HRD and its clinical significance in...

Feb 22, 2017 · However, through germline and tumor sequencing an understanding of the larger phenomenon of homologous recombination deficiency (HRD) has emerged. HRD impairs normal DNA damage repair which results in loss or duplication of chromosomal regions, termed genomic loss of heterozygosity (LOH).

May 30, 2022 · Homologous recombination deficiency (HRD) is a biomarker present in most advanced stages of ovarian cancer. Its presence can help predict high-grade ovarian cancer and help guide treatment....

Different panel for the detection of Homologous recombination repair (HRR) genes and homologous recombination deficiency (HRD) including loss of heterozygosity (LOH), telomeric allelic imbalance (TAI) and large scale state transitions (LST).

Homologous recombination deficiency is the result of a dysfunctional DNA repair process known as homologous recombination repair (HRR). HRR is responsible for repairing DNA double-strand breaks. The HRR protein complex includes BRCA1, …

Jul 27, 2023 · HRD testing screens these genes to determine how well the HRR pathway is functioning. It then generates an HRD score, which doctors can use to assess ovarian cancer progression.

The most described etiology of HRD is the mutation of genes involved in HR repair. Mutations can occur in germline cells, which represent individual characteristics, or somatic cells, which is a trait of tumor cells. Germline BRCA 1 and BRCA 2 mutations are the most well-known HRD etiology.

Nov 4, 2020 · Homologous recombination deficiency (HRD) results in impaired double strand break repair and is a frequent driver of tumorigenesis. Here, we develop a genome-wide mutational scar-based...