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BIOMARKER:

BRCA1 2080delA

i
Other names: BRCA1, BRCC1, PPP1R53, RNF53, Breast cancer 1, early onset
Entrez ID:
12ms
Genetic Analysis of Multiple Primary Malignant Tumors in Women with Breast and Ovarian Cancer. (PubMed, Int J Mol Sci)
Two or more tumors of HBOC-spectrum were only in five out of nine families of mutation carriers. Nevertheless, every mutation carrier has relatives who have developed malignant tumors.
Journal • BRCA Biomarker
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BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • CHEK2 (Checkpoint kinase 2)
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BRCA1 mutation • CHEK2 mutation • BLM mutation • BRCA1 2080delA
almost2years
BRCA1/2 genes mutations frequency in patients with various histological types of ovarian cancer (data for South of Russia). (ASCO 2022)
Thus, frequency of BRCA1/2 gene mutations in OC patients living in the South of Russia was 16.0%. Distribution of mutation types in the BRCA1 gene, with a predominance of 5382insC (53.8%) and 300T > G (21.2%), corresponded to their occurrence ratio in the European populations. BRCA1/2 gene mutations were registered more often in the group of high-grade serous carcinoma patients.
Clinical • BRCA Biomarker
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BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset)
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BRCA2 mutation • BRCA1 mutation • BRCA1 2080delA
almost2years
Territorial manifestation features of multiple primary malignant neoplasms in carriers of germline mutations in the BRCA 1 gene in Republic of Bashkortostan. (ASCO 2022)
Primary multiple cancer in carriers of germline mutations in the Republic of Bashkortostan was observed in 14.6% (33/225) of patients with mutations in the BRCA 1 genes. The period of manifestation of a secondary malignant tumor ranged from 2 to 18 years. This study plays an important role in the process of optimizing screening for multiple primary malignant neoplasms for carriers of germline mutations.
BRCA Biomarker
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BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • BRCA (Breast cancer early onset)
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BRCA1 mutation • BRCA mutation • BRCA1 2080delA