St Bartholomew's Hospital

About: St Bartholomew's Hospital is a healthcare organization based out in London, United Kingdom. It is known for research contribution in the topics: Population & Cancer. The organization has 11054 authors who have published 13229 publications receiving 501102 citations. The organization is also known as: St. Bartholomew's Hospital & The Royal Hospital of St Bartholomew.

The significance of circulating cells carrying t(14;18) in long remission from follicular lymphoma.

Abstract: Peripheral blood mononuclear cell fractions from 15 patients in continuous clinical remission from follicular lymphoma for longer than 10 years were examined for cells carrying the t(14;18) translocation using the polymerase chain reaction (PCR). The assay used was able to detect one positive cell in approximately 5 x 10(5) cells (a single 14q+ molecule in 2.5 micrograms DNA). Cells positive for t(14;18) were found in six of eight patients initially presenting with stage III or IV disease, compared with zero of seven of those with stage I or II disease (P less than .05). In two cases 14q+ junction regions were also successfully amplified from formalin-fixed biopsy material obtained at presentation 12 and 17 years previously. In both, sequence analysis demonstrated that the cells circulating in remission belonged to the original clone. These results indicate that cells bearing t(14;18) frequently persist in the peripheral blood in long remission of advanced follicular lymphoma and question the value of the...

Population Testing for Cancer Predisposing BRCA1/BRCA2 Mutations in the Ashkenazi-Jewish Community: A Randomized Controlled Trial

Abstract: Important advances in understanding germ-line predisposition to familial cancer have led to the identification of several rare high-penetrance genes causing cancer syndromes: BRCA1/BRCA2 (familial breast and/or ovarian cancer) and mismatch-repair genes (Lynch Syndrome). BRCA1/2 carriers have a 50% to 80% risk of breast cancer, a 20% to 45% risk of ovarian cancer (OC), and a 5% to 25% risk of prostate cancer (1–5). Established management strategies for high-risk individuals include: 1) risk-reducing salpingo-oophorectomy (RRSO) to prevent tubal/ovarian cancer (hazard ratio [HR] = 0.21) (which also halves breast cancer risk in premenopausal women) (6), 2) risk-reducing mastectomy to prevent breast cancer (7–9), 3) early onset breast screening (MRI/mammograms), and 4) preimplantation genetic diagnosis. Within the UK National Health Service (NHS), genetic mutation testing is limited to individuals with cancer from high-risk families (carrier probability ≥20% in the general population and ≥10% in the Jewish population) or individuals from families with a confirmed BRCA mutation who request referral to specialist genetic clinics. This family history (FH)–based approach requires individuals/general practitioners to recognize and act on a clinically significant FH. Mutation carriers who lack/are unaware of their FH, who do not recognize the risk associated with FH or are not proactive in seeking advice, are inevitably excluded (10–12). Most of these current approach–associated limitations could be overcome by systematic population-based testing. The literature indicates that genetic counseling/testing is associated with psychological benefits in noncarriers and has no substantial adverse psychological consequences for carriers (8,13). However, available data are predominantly from trials in highly selected samples of individuals with a strong FH of cancer, and the results cannot be generalized to the general population. There is no established model for population-based testing of dominant mutations, and the best way to deliver this service on a population basis is unknown.(13) We describe results from the first phase of a novel randomized controlled trial (RCT), Genetic Cancer Prediction through Population Screening (GCaPPS). The objective was to assess the benefits/disadvantages of a population-based approach to genetic testing for high penetrance–dominant gene mutations compared with the conventional FH-based approach. The RCT design provided a basis for comparison of psychological and quality-of-life differences between population-based and FH-based testing. We based the trial in an Ashkenazi Jewish (AJ) community as a population-model and used BRCA1/2-mutations as our disease-model. These choices were guided by the higher prevalence of three BRCA1/2 founder mutations in the AJ population.

Human foetal pituitary peptides and parturition.

Abstract: THE pituitary gland produces a family of related peptide hormones (Fig. 1). Adrenocorticotrophic hormone (ACTH), β-lipotropic hormone (β-LPH) and possibly γ-lipotropic hormone (γ-LPH) are produced by the pars distalis. α-Melanocyte stimulating hormone (α-MSH), β-melanocyte stimulating hormone (β-MSH) and corticotropin-like intermediate lobe peptide (CLIP)1, however, are thought to be formed in the pars intermedia2, their being found only in those species in which this structure can be distinguished. They have not been identified in man3. The human foetus, however, does develop a rudimentary pars intermedia which involutes shortly after birth4. We present, for the first time, evidence for the occurrence of peptides resembling α-MSH and CLIP in the human foetal pituitary in the second half of pregnancy, and we suggest that these peptides are the dominant hormones of foetal life, only replaced by ACTH before parturition.