Transgastric biopsy of a submucosal gastric tumour.

Endoscopic biopsy is thought to be the best method to obtain biopsy samples of the gastrointestinal tract. In our case, however, an endoscopic forceps biopsy failed to confirm malignancy of an intramural gastric tumour. Since the tumour, about 4 cm in diameter, was well delineated on the CT scan, the patient was referred for a percutaneous CT-guided needle biopsy, which confirmed a gastrointestinal stromal tumour.

Association of the rs1346044 Polymorphism of the Werner Syndrome Gene RECQL2 with Increased Risk and Premature Onset of Breast Cancer.

Like other RECQ helicases, WRN/RECQL2 plays a crucial role in DNA replication and the maintenance of genome stability. Inactivating mutations in RECQL2 lead to Werner syndrome, a rare autosomal disease associated with premature aging and an increased susceptibility to multiple cancer types. We analyzed the association of two coding single-nucleotide polymorphisms in WRN, Cys1367Arg (rs1346044), and Arg834Cys (rs3087425), with the risk, age at onset, and clinical subclasses of breast cancer in a hospital-based case-control study of an Austrian population of 272 breast cancer patients and 254 controls.

The L10P polymorphism and serum levels of transforming growth factor β1 in human breast cancer.

The L10P single nucleotide polymorphism (SNP) is located in the signal sequence of the transforming growth factor β1 (TGFβ1) gene. The proline-encoding (Pro-) allele of this SNP has been associated with an increased breast cancer risk, which has been attributed to the elevated secretion of this TGFβ1 variant observed in vitro and in male subjects. Here we investigated the association of the L10P SNP with serum levels of TGFβ1 in female breast cancer patients and controls.