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BRCA-related breast cancer appears at an earlier age than sporadic breast cancer. [9]: 89–111 It has been asserted that BRCA-related breast cancer is more aggressive than normal breast cancer, however most studies in specific populations suggest little or no difference in survival rates despite seemingly worse prognostic factors.
Most cancer isn't caused by BRCA mutations — they account for 5 percent to 10 percent of breast cancers and 15 percent of ovarian cancers — so the gene tests aren't for everyone. But mutations ...
In medical genetics, compound heterozygosity is the condition of having two or more heterogeneous recessive alleles at a particular locus that can cause genetic disease in a heterozygous state; that is, an organism is a compound heterozygote when it has two recessive alleles for the same gene, but with those two alleles being different from each other (for example, both alleles might be ...
The system is designed to standardize reporting and is used by medical professionals to communicate a patient's risk of developing breast cancer, particularly for patients with dense breast tissue. The document focuses on patient reports used by medical professionals, not "lay reports" that are provided to patients.
Most hereditary breast-ovarian cancer syndromes are inherited in an autosomal dominant pattern. Biallelic and homozygous inheritance of defective alleles that confer this syndrome is usually an embryonically lethal condition; live cases usually experience a severe form of Fanconi anemia .
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The commercial test is marketed for use in breast cancer irrespective of estrogen receptor (ER) status. [72] The test is run on formalin fixed, paraffin-embedded tissue. MammaPrint traditionally used rapidly frozen tissue [39] but a room temperature, molecular fixative is available for use within 60 minutes of obtaining fresh tissue samples. [75]
A heterozygote advantage describes the case in which the heterozygous genotype has a higher relative fitness than either the homozygous dominant or homozygous recessive genotype. Loci exhibiting heterozygote advantage are a small minority of loci. [1] The specific case of heterozygote advantage due to a single locus is known as overdominance.
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