Publications by authors named "P Andrew Futreal"
Adult type ovarian granulosa cell tumors (AGCTs) are rare malignancies with the near universal c.C402G (p.Cys134Trp) somatic mutation in FOXL2, a Forkhead box-family transcription factor important for ovarian function.
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- Solitary fibrous tumor (SFT) is a rare type of tumor that can occur in various body parts and is often linked to specific genetic fusions, with 10-30% of cases becoming metastatic.
- A study involving DNA methylation analysis of 79 SFTs revealed distinct epigenetic changes linked to their primary sites, identifying key genes such as EGFR and TBX15 that showed differing levels of expression based on the tumor's location and genetic fusion type.
- TBX15 emerged as a significant marker, with changes in its methylation and expression strongly correlating to the tumor's tissue of origin, suggesting it could help differentiate between new tumors and metastases without needing extensive genomic analysis.
The gut microbiota drives progression to liver fibrosis, the main determinant of mortality in metabolic dysfunction-associated steatohepatitis (MASH). In this study, we aimed to identify bacterial species associated with protection against liver fibrosis in a high-risk population, and test their potential to protect against liver fibrosis . Based on stool shotgun metagenomic sequencing of 340 subjects from a population cohort disproportionally affected by MASH, we identified bacterial species from the and orders associated with reduced risk of liver fibrosis.
View Article and Find Full Text PDFOsteosarcoma is the most common primary bone malignancy in children and young adults, and it has few treatment options. As a result, there has been little improvement in survival outcomes in the past few decades. The need for models to test novel therapies is especially great in this disease since it is both rare and does not respond to most therapies.
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- Pulmonary sarcomatoid carcinoma (PSC) is a rare and aggressive type of lung cancer that has both normal cell and unusual cell features.
- Researchers studied PSC samples and compared them to normal lung tissues to understand their differences better, focusing on genetics and immune responses.
- They found 27 gene mutations in PSC, discovered two types of PSC based on immune system activity, and noted that one type (Immune High) had better survival rates, showing that the immune system plays a big role in fighting this cancer.