Kulle, B. | bioRxiv Science

bioRxiv2018

Haplotypes associated to gene expression in breast cancer: can they lead us to the susceptibility markers?

We have undertaken a systematic haplotype analysis of the positional type of biclusters analysing samples collected from 164 breast cancer patients and 86 women with no known history of breast cancer. We present here the haplotypes and LD patterns in more than 80 genes distributed across all chromosomes and how they differ between cases and controls. We aim by this to 1) identify genes with different haplotype distribution or LD patterns between breast cancer patients and controls and 2) to evaluate the intratumoral mRNA expression patterns in breast cancer associated particularly to the cancer susceptibility haplotypes. A significant difference in haplotype distribution between cases and controls was observed for a total of 35 genes including ABCC1, AKT2, NFKB1, TGFBR2 and XRCC4. In addition we see a negative correlation between LD patterns in cases and controls for neighboring markers in 8 genes such as CDKN1A, EPHX1 and XRCC1.

genomics↗

bioRxiv2018

Candidate SNP analyses integrated with mRNA expression and hormone levels reveal influence on mammographic density and breast cancer risk

Introduction Introduction Materials and methods Results Discussion Globaltest Conclusion Competing interests Authors contributions Reference List Mammographic density (MD) is a well-documented risk factor for breast cancer[1-9], and thus a promising target for early detection of the disease. Based on mammographic results, the breast is given a percent density (PDEN) score ranging from 0-100% with 0 being the least dense (primarily adipose tissue). It is estimated that the risk of developing breast cancer is four to six times higher in women with an MD score of at least 75% [2,9] and that one-third of breast cancers occur in patients with PDEN scores of at least 50% [2]. MD is ...

genomics↗