Genome remodelling in a basal-like breast cancer metastasis and xenograft

Massively parallel DNA sequencing technologies provide an unprecedented ability to screen entire genomes for genetic changes associated with tumour progression. Here we describe the genomic analyses of four DNA samples from an African-American patient with basal-like breast cancer: peripheral blood, the primary tumour, a brain metastasis and a xenograft derived from the primary tumour. The metastasis contained two de novo mutations and a large deletion not present in the primary tumour, and was significantly enriched for 20 shared mutations. The xenograft retained all primary tumour mutations and displayed a mutation enrichment pattern that resembled the metastasis. Two overlapping large deletions, encompassing CTNNA1, were present in all three tumour samples. The differential mutation frequencies and structural variation patterns in metastasis and xenograft compared with the primary tumour indicate that secondary tumours may arise from a minority of cells within the primary tumour

Occurrence of Uranium in Groundwater Along the Lithological Contacts in Central Tamilnadu, India: An Isotope Hydrogeochemical Perspective

© 2017 Springer Science+Business Media B.V., part of Springer Nature Groundwater contributes to the highest exposure level of naturally occurring uranium (U) to biosphere, and hence, the source and concentration of uranium in groundwater needs to be monitored periodically. In the present study, groundwaters from different lithologic locations were collected and measured for uranium concentration and major ions in order to establish any possible link with the lithology on the uranium distribution in central parts of Tamil Nadu, South India. About 11% of the samples contain U in excess of the permissible limit of WHO (Guidelines for drinking-water quality, WHO, Geneva, 2011), and the contamination was limited to mostly hard rock terrain, which is granitic in nature. The correlations among U, major ions, and environmental isotopes were studied to understand the mechanism governing uranium dissolution and transport in groundwater of this region. Observations lead us to infer that the older water with near-neutral pH and oxidizing condition contains higher dissolved U compared with relatively young groundwater. The results also reflect the possible health risk to the local population through long-term consumption of uranium-containing groundwater without any pretreatment