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The sporadic status of the MSI-H right-sided tumors (RST) was confirmed by methylation analysis of the hMLH1 promoter using a methylation-specific MLPA assay as previously described [ 26].
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Unsupervised hierarchical clustering did not stratify tumours according to their familial or sporadic condition or to their BRCA1/2 mutation status.
Furthermore, in a Phase I trial in BRCA mutation carriers and sporadic cancer, PTEN status did not correlate with antitumor activity of niraparib.
We focused on epigenetic mechanisms and aimed to explore if DNA methylation patterns in tumors depend on DNA mismatch repair (MMR) status, sporadic vs. Lynch-associated disease, and geographic origin (Finland vs. Australia).
In addition to systematic comparison of copy number alterations across different tumour subtypes, we also carried out unsupervised analysis of the aCGH data to unveil possible associations between particular patterns of genomic changes and the sporadic or familial status of tumours (or hereditary subtype, BRCA1/2/X).
Gene carriers were matched to sporadic cases for ER status.
However, reports of TSC1 and TSC2 mutation status in sporadic tumours other than bladder are very few.
Consistent with sporadic breast cancer, menopausal status is a potentially modifying factor in the relationship between obesity and breast cancer risk in BRCA mutation carriers, however results are conflicting.
APOE genotype may be one important factor contributing to heterogeneity in sporadic AD, as non-ε4 status among EOAD patients correlates with atypicality [118].
ApoE genotype may be one important factor contributing to heterogeneity in sporadic AD, as non-ε4 status among EOAD patients correlates with atypicality [ 46].
In addition, the strong correlation between tumor size and nodal status described for sporadic breast cancer patients, was absent in BRCA1 mutation carriers[ 28].
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