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Genomic Classification and Prognosis in Acute Myeloid Leukemia.
(MASSACHUSETTS MEDICAL SOC, 2016-06-09)
BACKGROUND: Recent studies have provided a detailed census of genes that are mutated in acute myeloid leukemia (AML). Our next challenge is to understand how this genetic diversity defines the pathophysiology of AML and ...
Uterine Cancer After Risk-Reducing Salpingo-oophorectomy Without Hysterectomy in Women With BRCA Mutations.
(AMER MEDICAL ASSOC, 2016-11-01)
IMPORTANCE: The link between BRCA mutations and uterine cancer is unclear. Therefore, although risk-reducing salpingo-oophorectomy (RRSO) is standard treatment among women with BRCA mutations (BRCA+ women), the role of ...
Does mainstream BRCA testing affect surgical decision-making in newly-diagnosed breast cancer patients?
(Elsevier BV, 2023-02-01)
BACKGROUND: Germline pathogenic variants mutations) in the BRCA1 and BRCA2 genes cause an increased risk of breast cancer and ovarian cancer. Mainstream cancer genetic testing (MCG) was introduced for breast cancer patients ...
Whole-genome sequencing of chronic lymphocytic leukaemia reveals distinct differences in the mutational landscape between IgHVmut and IgHVunmut subgroups.
(NATURE PUBLISHING GROUP, 2018-02-01)
Chronic lymphocytic leukaemia (CLL) consists of two biologically and clinically distinct subtypes defined by the abundance of somatic hypermutation (SHM) affecting the Ig variable heavy-chain locus (IgHV). The molecular ...
Implementing rapid, robust, cost-effective, patient-centred, routine genetic testing in ovarian cancer patients.
(NATURE PORTFOLIO, 2016-07-13)
Advances in DNA sequencing have made genetic testing fast and affordable, but limitations of testing processes are impeding realisation of patient benefits. Ovarian cancer exemplifies the potential value of genetic testing ...
Psychosocial impact of undergoing prostate cancer screening for men with BRCA1 or BRCA2 mutations.
(WILEY, 2019-02-01)
OBJECTIVES: To report the baseline results of a longitudinal psychosocial study that forms part of the IMPACT study, a multi-national investigation of targeted prostate cancer (PCa) screening among men with a known pathogenic ...
Impact of mutational profiles on response of primary oestrogen receptor-positive breast cancers to oestrogen deprivation.
(NATURE PORTFOLIO, 2016-11-09)
Pre-surgical studies allow study of the relationship between mutations and response of oestrogen receptor-positive (ER+) breast cancer to aromatase inhibitors (AIs) but have been limited to small biopsies. Here in phase I ...
Baseline results from the UK SIGNIFY study: a whole-body MRI screening study in TP53 mutation carriers and matched controls.
(SPRINGER, 2017-07-01)
In the United Kingdom, current screening guidelines for TP53 germline mutation carriers solely recommends annual breast MRI, despite the wide spectrum of malignancies typically seen in this group. This study sought to ...
Mendelian randomisation study of height and body mass index as modifiers of ovarian cancer risk in 22,588 BRCA1 and BRCA2 mutation carriers.
(SPRINGERNATURE, 2019-07-16)
BACKGROUND: Height and body mass index (BMI) are associated with higher ovarian cancer risk in the general population, but whether such associations exist among BRCA1/2 mutation carriers is unknown. METHODS: We applied a ...
Venetoclax induces rapid elimination of NPM1 mutant measurable residual disease in combination with low-intensity chemotherapy in acute myeloid leukaemia.
Based on promising results in older adults with acute myeloid leukaemia (AML), we treated patients with NPM1<sup>mut</sup> measurable residual disease (MRD) using off-label venetoclax in combination with low-dose cytarabine ...