13 research outputs found
Comprehensive and Integrated Genomic Characterization of Adult Soft Tissue Sarcomas
Sarcomas are a broad family of mesenchymal malignancies exhibiting remarkable histologic diversity. We describe the multi-platform molecular landscape of 206 adult soft tissue sarcomas representing 6 major types. Along with novel insights into the biology of individual sarcoma types, we report three overarching findings: (1) unlike most epithelial malignancies, these sarcomas (excepting synovial sarcoma) are characterized predominantly by copy-number changes, with low mutational loads and only a few genes (, , ) highly recurrently mutated across sarcoma types; (2) within sarcoma types, genomic and regulomic diversity of driver pathways defines molecular subtypes associated with patient outcome; and (3) the immune microenvironment, inferred from DNA methylation and mRNA profiles, associates with outcome and may inform clinical trials of immune checkpoint inhibitors. Overall, this large-scale analysis reveals previously unappreciated sarcoma-type-specific changes in copy number, methylation, RNA, and protein, providing insights into refining sarcoma therapy and relationships to other cancer types
In silico evaluation of the 12-gene molecular score (EndoPredict) and the recurrence score (Oncotype DX) as predictors of response to neo-adjuvant chemotherapy in estrogen receptor positive (ER+), HER2 negative (HER2-) breast cancer.
PIK3CA mutational status and overall survival in patients with cervical cancer treated with radical chemoradiotherapy
Infertility and incident endometrial cancer risk: A pooled analysis from the epidemiology of endometrial cancer consortium (E2C2)
Background: Nulliparity is an endometrial cancer risk factor, but whether or not this association is due to infertility is unclear. Although there are
many underlying infertility causes, few studies have assessed risk relations by specific causes.
Methods: We conducted a pooled analysis of 8153 cases and 11 713 controls from 2 cohort and 12 case-control studies. All studies provided selfreported infertility and its causes, except for one study that relied on data from national registries. Logistic regression was used to estimate
adjusted odds ratios (OR) and 95% confidence intervals (CI).
Results: Nulliparous women had an elevated endometrial cancer risk compared with parous women, even after adjusting for infertility (OR ¼ 1.76;
95% CI: 1.59–1.94). Women who reported infertility had an increased risk compared with those without infertility concerns, even after adjusting for
nulliparity (OR ¼ 1.22; 95% CI: 1.13–1.33). Among women who reported infertility, none of the individual infertility causes were substantially related
to endometrial cancer.
Conclusions: Based on mainly self-reported infertility data that used study-specific definitions of infertility, nulliparity and infertility appeared to
independently contribute to endometrial cancer risk. Understanding residual endometrial cancer risk related to infertility, its causes and its
treatments may benefit from large studies involving detailed data on various infertility parameters