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In hereditary breast cancer-only families, mutation detection ratios were low (23.8%) compared to hereditary breast ovarian cancer families (75%) (P<0.0001).
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The highest mutation detection ratio was obtained in breast ovarian cancer families fulfilling the criteria for hereditary disease (75%=21/28), decreasing to 23.1% (9/39) in families with familial breast and ovarian cancer (P<0.0001).
A significantly higher mutation detection ratio was obtained within the group of TNBC patients (7/30; 23.3 %; 95 % CI = 9.9 42.3 %) compared to the premenopausal breast cancer group without TNBC (6/78; 7.7 %; 95 % CI = 2.9 16.0 %) (p = 0.0432).
Not surprisingly, the highest mutation detection ratio was obtained within the subgroup of TNBC patients diagnosed before the age of 50 (5/14; 35.7 %; 95 % CI = 12.7 64.9 %).> The BRCA2 c.7934delG Afrikaner founder mutation was identified in 2 (white) patients, one with TNBC and one diagnosed with premenopausal breast cancer.
CDH1/E-cadherin mutation detection rates vary between 12% and 83%.
These mutation detection rates are comparable to previously reported populations.
As low as 0.86 fM mutant DNA was detected by this assay, and positive mutation detection was achieved with a wild-type to mutant ratio of 10,000 1.
The positive mutation detection is achieved with a wild-type to mutant ratio of 5000 1.
In addition, the positive mutation detection was achieved with a wild-type to mutant ratio of 10 000:1, due to the high fidelity of DNA ligase in differentiating mismatched bases at the ligation site.
After validating the single copy genes, our mutation detection pipeline was improved by setting the mutations at the ratio of non-reference nucleotide number counts of rows to columns at each position (variant multipliers), which ranged from 8to1414 at the minimum non-reference nucleotide percentage of 0.05% and Phred quality scores ranging from 16 to 23.
Mutation detection, traditionally performed on a qualitative basis, can also benefit from quantitative analysis through determination of wild-type to mutant-type ratios, as well as providing distinction between stochastic and pathogenic mutations [ 7].
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