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Medulloblastomas from patients who died with PTEN deficiency (score = 0) were of either classic (n = 9) or desmoplastic (n = 2) histology and none had metastasis initially at diagnosis.
Several retrospective correlative studies showed a good correlation between the homologous recombination deficiency score and the response to platinum therapy in breast cancer and ovarian cancer [ 27, 28].
Overall metrics of tumor heterogeneity and genome integrity (for example, homologue recombination deficiency score) are emerging as potential new predictive markers for platinum agents.
These three metrics can be combined into a single homologous recombination deficiency score (HRD assay; Myriad Genomic, Salt Lake City, UT, USA).
34– 35 Otherwise, all conditions in this middle third scoring between tyrosinemia type I (score = 1,257; 63rd centile) and galactose epimerase deficiency (score = 1,066; 35th centile) are part of the differential diagnosis of another higher scoring condition.
A high homologous recombination deficiency score indicates defective homologous recombination repair that renders cells vulnerable to accumulation of DNA damage after exposure to DNA crosslinking drugs, particularly platinum agents.
Similar(53)
Table 8 Galactokinase deficiency scored 1,286 points in the analysis.
Patients with androgen deficiency scored worse on several subscales of both questionnaires; however, this difference was most evident in subscales reflecting physical functioning, including the PCS.
Since those loci have no such excess in other spawning groups, all populations are in HWE, and are free of heterozygote deficiency, scoring error, and stuttering [ 57], all loci are analyzed here.
Three DNA-based homologous recombination deficiency (HRD) scores (HRD-loss of heterozygosity score (LOH), HRD-telomeric allelic imbalance score (TAI), and HRD-large-scale state transition score (LST)) have been developed that are highly correlated with defects in BRCA1/2, and are associated with response to platinum therapy in triple negative breast and ovarian cancer.
The homologous recombination deficiency (HRD) score was defined as the number of these regions observed in a tumour sample.
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