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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.
- Genetic Testing Fact Sheet
Genetic testing can give several possible results: positive,...
- Risk Factors
It is usually not possible to know exactly why one person...
- Genetic Testing Fact Sheet
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.
7 Νοε 2013 · Except for few common mutations, the spectrum of BRCA1 and BRCA2 mutations is heterogeneous in diverse populations. 185AGdel and 5382insC are the most important BRCA1 and BRCA2 alterations which have been encountered in most of the populations.
BRCA1 and BRCA2 are tumour suppressor genes, the coding regions of which show no homology to previously described proteins or to each other. If one copy of either gene is mutated in the germ line, the result is hereditary breast and ovarian cancer (HBOC) syndrome, which is inherited in an autosomal-dominant manner.
21 Δεκ 2021 · BRCA1 and BRCA2 are classical tumor suppressor genes that are homozygously inactivated in both hereditary and sporadic breast and ovarian cancers, as well as pancreatic and prostate cancers....
3 Μαρ 2023 · Germline pathogenic variants in BRCA1/BRCA2 are associated with ovarian cancer, fallopian tube cancer, primary peritoneal cancer, male breast cancer, prostate cancer, pancreatic cancer, and early-onset breast cancer. BRCA1/BRCA2 -associated cancer risks are inherited in an autosomal dominant manner.
10 Ιαν 2018 · There were 120 different BRCA1 and 87 different BRCA2 variants among the mutation carriers. Forty-six per cent of the registered BRCA1/2 families (454/981) had a previously reported Norwegian founder mutation. The majority of BRCA1/2 mutations (71%) were rare, each found in only one or two families.
