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KIT-Associated Familial GIST Syndrome: Response to Tyrosine Kinase Inhibitors and Implications for Risk Management.
(OXFORD UNIV PRESS, 2022-08-05)
Sporadic gastrointestinal stromal tumors (GIST) are rare tumors, with a median age at diagnosis of 60 years. Familial GISTs are very rare and typically associated with earlier onset, with an average age at diagnosis of 48 ...
A national survey assessing public readiness for digital health strategies against COVID-19 within the United Kingdom.
(2021-03-16)
There is concern that digital public health initiatives used in the management of COVID-19 may marginalise certain population groups. There is an overlap between the demographics of groups at risk of digital exclusion ...
Alpelisib plus fulvestrant in PIK3CA-mutated, hormone receptor-positive advanced breast cancer after a CDK4/6 inhibitor (BYLieve): one cohort of a phase 2, multicentre, open-label, non-comparative study.
(ELSEVIER SCIENCE INC, 2021-04-01)
BACKGROUND: Alpelisib, a PI3Kα-selective inhibitor and degrader, plus fulvestrant showed efficacy in hormone receptor-positive, HER2-negative, PIK3CA-mutated advanced breast cancer in SOLAR-1; limited data are available ...
Embryonal Rhabdomyosarcoma of the Ovary and Fallopian Tube: Rare Neoplasms Associated With Germline and Somatic DICER1 Mutations.
(LIPPINCOTT WILLIAMS & WILKINS, 2020-06-01)
DICER1 mutations (somatic or germline) are associated with a variety of uncommon neoplasms including cervical and genitourinary embryonal rhabdomyosarcoma (ERMS). We report a primary ovarian and 2 primary fallopian tube ...
Olaparib and temozolomide in desmoplastic small round cell tumors: a promising combination in vitro and in vivo.
(SPRINGER, 2020-07-01)
PURPOSE: Desmoplastic small round cell tumors (DSRCTs) are highly malignant and very rare soft tissue sarcomas with a high unmet need for new therapeutic options. Therefore, we examined poly(ADP-ribose) polymerase 1 (PARP1) ...
Long-term outcomes with intensive induction chemotherapy (carboplatin, bleomycin, vincristine and cisplatin/bleomycin, etoposide and cisplatin) and standard bleomycin, etoposide and cisplatin in poor prognosis germ cell tumours: A randomised phase II trial (ISRCTN53643604).
(ELSEVIER SCI LTD, 2020-03-01)
BACKGROUND: Up to 50% of men with poor prognosis, non-seminoma germ cell tumours (GCTs) die with standard BEP (bleomycin, etoposide and cisplatin) chemotherapy. An intensive regimen, CBOP/BEP (carboplatin, bleomycin, ...
Variation of the apparent diffusion coefficient of skull bone marrow by age group, pubertal status, and gender in a pediatric population.
(SAGE PUBLICATIONS LTD, 2020-09-01)
BACKGROUND: Bone marrow composition varies with stage of development. PURPOSE: To assess differences in apparent diffusion coefficient (ADC) derived from clivus bone marrow in healthy children by age, pubertal status, and ...
Association of Genomic Domains in BRCA1 and BRCA2 with Prostate Cancer Risk and Aggressiveness.
(AMER ASSOC CANCER RESEARCH, 2020-02-01)
Pathogenic sequence variants (PSV) in BRCA1 or BRCA2 (BRCA1/2) are associated with increased risk and severity of prostate cancer. We evaluated whether PSVs in BRCA1/2 were associated with risk of overall prostate cancer ...
Comparative Validation of Breast Cancer Risk Prediction Models and Projections for Future Risk Stratification.
(OXFORD UNIV PRESS INC, 2020-03-01)
BACKGROUND: External validation of risk models is critical for risk-stratified breast cancer prevention. We used the Individualized Coherent Absolute Risk Estimation (iCARE) as a flexible tool for risk model development ...
Half of germline pathogenic and likely pathogenic variants found on panel tests do not fulfil NHS testing criteria.
(NATURE PORTFOLIO, 2022-02-21)
Genetic testing for cancer predisposition has been curtailed by the cost of sequencing, and testing has been restricted by eligibility criteria. As the cost of sequencing decreases, the question of expanding multi-gene ...