Additional file 1: of High expression of the p53 isoform Îł is associated with reduced progression-free survival in uterine serous carcinoma

Table S1. Primers and probes for qPCR. (DOCX 14 kb

The WID-BC-index identifies women with primary poor prognostic breast cancer based on DNA methylation in cervical samples

Genetic and non-genetic factors contribute to breast cancer development. An epigenome-based signature capturing these components in easily accessible samples could identify women at risk. Here, we analyse the DNA methylome in 2,818 cervical, 357 and 227 matched buccal and blood samples respectively, and 42 breast tissue samples from women with and without breast cancer. Utilising cervical liquid-based cytology samples, we develop the DNA methylation-based Women's risk IDentification for Breast Cancer index (WID-BC-index) that identifies women with breast cancer with an AUROC (Area Under the Receiver Operator Characteristic) of 0.84 (95% CI: 0.80-0.88) and 0.81 (95% CI: 0.76-0.86) in internal and external validation sets, respectively. CpGs at progesterone receptor binding sites hypomethylated in normal breast tissue of women with breast cancer or in BRCA mutation carriers are also hypomethylated in cervical samples of women with poor prognostic breast cancer. Our data indicate that a systemic epigenetic programming defect is highly prevalent in women who develop breast cancer. Further studies validating the WID-BC-index may enable clinical implementation for monitoring breast cancer risk

Association of variants in small GTPase genes with epithelial ovarian cancer risk (p-value<10⁻⁴) and functional annotation.

<p>Association of variants in small GTPase genes with epithelial ovarian cancer risk (p-value<10⁻⁴) and functional annotation.</p

Top SNPs associated with SER EOC across racial groups.

<p>¹ MAF, minor allele and its frequency</p><p>² p-value <0.05 are in bold</p><p>³ Odds ratio, 95% confidence interval</p><p>Top SNPs associated with SER EOC across racial groups.</p

The most significant SNPs in the transport pathway genes and risk of EOC by histology, invasiveness, and race/ethnicity¹.

<p>¹ INV: all invasive EOC combined; LMP: low malignant potential / borderline tumors; SER: serous; CC: clear cell; End: endometrioid; Muc: mucinous. Statistically significant associations are indicated in bold (P<0.05). Data format is the following: OR (95% CI); p-value; FDR q-value (white-European women). Only significant FDRs (q<0.2) are shown (<i>HEPH</i>: INV and SER<i>; UGT1A</i>: End).</p><p>The most significant SNPs in the transport pathway genes and risk of EOC by histology, invasiveness, and race/ethnicity<a href="http://www.plosone.org/article/info:doi/10.1371/journal.pone.0128106#t001fn001" target="_blank">¹</a>.</p