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Women with deleterious mutations in either the BRCA1 or BRCA2 genes have a high risk of developing breast and/or ovarian cancer.Because different studies look at different populations, and because different types of mutations have somewhat different risks, the risk is best expressed as a range, rather than a single number.
The lifetime risk of a female developing breast and/or ovarian cancer increases if she inherits a harmful mutation of BRCA1 or BRCA2, but the severity depends on the type of mutation. [8] Each year, about 3% of breast cancers and 10% of ovarian cancers result from inherited mutations in the BRCA1 and BRCA2 genes. [9]
Absolute risk of cancers in BRCA1 or BRCA2 mutation. [4]A number of genes are associated with HBOC. [5] The most common of the known causes of HBOC are: BRCA mutations: [5] Harmful mutations in the BRCA1 and BRCA2 genes can produce very high rates of breast and ovarian cancer, as well as increased rates of other cancers.
Jen Culton learned she had the BRCA1 gene mutation after her older sister's breast-cancer diagnosis. She decided to have two of her daughters tested; one daughter also has the BRCA1 gene mutation.
Level of BRCA1 expression is also relevant to ovarian cancer treatment. Patients having sporadic ovarian cancer who were treated with platinum drugs had longer median survival times if their BRCA1 expression was low compared to patients with higher BRCA1 expression (46 compared to 33 months). [125]
A mutation in BRCA1 or BRCA2 can confer a lifetime ovarian cancer risk of 40-50% and 10-20% respectively, [15] with BRCA2 mutations strongly associated with better clinical outcomes. A specific tumour protein 53 ( TP53 ) expression pattern in the Fallopian tube epithelium – the ‘p53 signature’ - is thought to be a precursor marker of HGSC.
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