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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 (BReast CAncer gene 1) and BRCA2 (BReast CAncer gene 2) are genes that produce proteins that help repair damaged DNA. Everyone has two copies of each of these genes—one copy inherited from each parent.
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.
6 Αυγ 2024 · BRCA1 and BRCA2 gene mutations can occur at any location within the gene structure. It has been discovered that these genes possess a range of mutations that can increase susceptibility to BC and OC to different extents.
The proteins encoded by the two major breast cancer susceptibility genes, BRCA1 and BRCA2, work in a common pathway of genome protection. However, the two proteins work at different stages in the DNA damage response (DDR) and in DNA repair.
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.
4 Απρ 2015 · In BRCA1, we identified 3 breast cancer cluster regions (BCCRs) located at c.179 to c.505 (BCCR1; RHR = 1.46; 95% CI, 1.22–1.74; P = 2 × 10 −6), c.4328 to c.4945 (BCCR2; RHR = 1.34; 95% CI, 1.01–1.78; P = .04), and c. 5261 to c.5563 (BCCR23, RHR = 1.38; 95% CI, 1.22–1.55; P = 6 × 10 −9).
