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7 Νοε 2013 · The BC susceptibility gene, BRCA1, is located at chromosome 17q21 and codes for an 1863 amino acid protein involved in gene regulation processes following DNA damage. BRCA2 gene was mapped on chromosome 13q12.3 by positional cloning and translation following its transcription which leads to the formation of a protein with 3,418 amino acids.
- Low Frequency of Brca1 Germline Mutations in 45 German Breast/Ovarian Cancer Families
Hormone-dependent regulation of BRCA1 in human breast cancer...
- Penetrances of Brca1 1675delA and 1135insA With Respect to Breast Cancer and Ovarian Cancer
We have previously reported two BRCA1 founder mutations in...
- Evidence Against Palb2 Involvement in Icelandic Breast Cancer Susceptibility
A dominant pattern of inheritance is evident in...
- Brca1 and Brca2 Germline Mutation Analysis in The Indonesian Population
Introduction. Breast cancer is the most common cancer in...
- Li-Fraumeni-like Syndrome Associated With a Large Brca1 Intragenic Deletion
Background. Germline mutations of the tumor suppressor gene...
- PMC Free Article
Background. A large number of distinct mutations in the...
- Low Frequency of Brca1 Germline Mutations in 45 German Breast/Ovarian Cancer Families
BRCA1 and BRCA2 are genes involved in DNA repair. Constitutional (germline) pathogenic variants in these genes are associated with hereditary breast and ovarian cancer, as well as other cancers.
23 Ιουλ 2023 · Both BRCA1 and BRCA2 are thought to act as tumor suppressor genes. Over the decades, it has been shown that mutations in the BRCA genes can lead to the development of breast, ovarian, prostate and colon cancer. In excess of 100 discrete germline mutations in BRCA1 and BRCA2 have been identified.
BRCA1 is a pleiotropic DDR protein that functions in both checkpoint activation and DNA repair, whereas BRCA2 is a mediator of the core mechanism of homologous recombination.
The BRCA1 gene, mapped to chromosome 17q21, is a large one (Fig. 1). It spans 100 kb of genomic DNA and encodes a protein of 1863 amino acids. This gene, transcribed in several ...
12 Αυγ 2016 · BRCA1 and BRCA2 are tumour-suppressor genes encoding proteins that are essential for the repair of DNA double-strand breaks by homologous recombination (HR). Cells that lack either BRCA1 or...
21 Ιουν 2022 · BRCA1 and BRCA2 are tumour suppressor genes that play a critical role in maintaining genomic stability via the DNA repair mechanism. DNA repair defects caused by BRCA1 and BRCA2 missense...
