Molecular Pathology
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Recent submissions
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Preclinical evaluation of the PARP inhibitor BMN-673 for the treatment of ovarian clear cell cancer.
(2017-01-24)PURPOSE: To determine if models of ovarian clear cell carcinomas (OCCCs) harbouring defects in homologous recombination (HR) DNA repair of double strand breaks (DSBs) are sensitive to cisplatin and/or PARP inhibition. ... -
Variation of mutational burden in healthy human tissues suggests non-random strand segregation and allows measuring somatic mutation rates.
(2018-06-07)The immortal strand hypothesis poses that stem cells could produce differentiated progeny while conserving the original template strand, thus avoiding accumulating somatic mutations. However, quantitating the extent of ... -
Splicing dysregulation as a driver of breast cancer
(2018-05-30) -
Driver Oncogenes but Not as We Know Them: Targetable Fusion Genes in Breast Cancer.
Two reports in this issue of Cancer Discovery outline how the genomic composition of tumors, including the presence of intragenic gene fusions, could inform the selection of treatment approaches in aggressive forms of the ... -
Noninvasive detection of HER2 amplification with plasma DNA digital PCR.
(2013-06)PURPOSE: Digital PCR is a highly accurate method of determining DNA concentration. We adapted digital PCR to determine the presence of oncogenic amplification through noninvasive analysis of circulating free plasma DNA and ... -
The Silver syndrome variant of hereditary spastic paraplegia maps to chromosome 11q12-q14, with evidence for genetic heterogeneity within this subtype.
(2001-07)The hereditary spastic paraplegias (HSPs) are a complex group of neurodegenerative disorders characterized by lower-limb spasticity and weakness. Silver syndrome (SS) is a particularly disabling dominantly inherited form ... -
Variation in the CTLA4/CD28 gene region confers an increased risk of coeliac disease.
(2002-03)Susceptibility to coeliac disease involves HLA and non-HLA-linked genes. The CTLA4/CD28 gene region encodes immune regulatory T-cell surface molecules and is a strong candidate as a susceptibility locus. We evaluated ... -
The predicted impact of coding single nucleotide polymorphisms database.
(2005-11)Nonsynonymous single nucleotide polymorphisms (nsSNP) have the potential to affect the structure or function of expressed proteins and are, therefore, likely to represent modifiers of inherited susceptibility. We have ... -
The management of lobular carcinoma in situ (LCIS). Is LCIS the same as ductal carcinoma in situ (DCIS)?
The management of lobular carcinoma in situ (LCIS). Is LCIS the same as ductal carcinoma in situ (DCIS)? Lobular carcinoma in situ was first described over 60 years ago. Despite the long history, it continues to pose ... -
Comprehensive genetic analysis of seven large families with mismatch repair proficient colorectal cancer.
(2010-06)Approximately 40% of colorectal cancer (CRC) families with a diagnosis of hereditary nonpolyposis CRC on the basis of clinical criteria are not a consequence of mismatch repair (MMR) deficiency. Such families provide ... -
Verification that common variation at 2q37.1, 6p25.3, 11q24.1, 15q23, and 19q13.32 influences chronic lymphocytic leukaemia risk.
(2010-08)A recent genome wide association study of chronic lymphocytic leukaemia (CLL) provided evidence that common variation at 2q13 (rs17483466), 2q37.1 (rs13397985), 6p25.3 (rs872071), 11q24.1 (rs735665), 15q23 (rs7176508) and ... -
Baculum morphology predicts reproductive success of male house mice under sexual selection
(2013-06-26)Background: Diversity in penile morphology is characterised by extraordinary variation in the size and shape of the baculum (penis bone) found in many mammals. Although functionally enigmatic, diversity in baculum form is ... -
The silent mutational landscape of infant MLL-AF4 pro-B acute lymphoblastic leukemia.
Over 90% of infants (< 1-year-old) diagnosed with leukemia have pro-B acute lymphoblastic leukemia (ALL) containing the MLL-AF4 fusion. When compared with other forms of paediatric ALL affecting later B-cell differentiation, ... -
Simulations of DNA topoisomerase 1B bound to supercoiled DNA reveal changes in the flexibility pattern of the enzyme and a secondary protein-DNA binding site
(2014-07-23)Human topoisomerase 1B has been simulated covalently bound to a negatively supercoiled DNA minicircle, and its behavior compared to the enzyme bound to a simple linear DNA duplex. The presence of the more realistic supercoiled ... -
Rare variants of large effect in BRCA2 and CHEK2 affect risk of lung cancer.
We conducted imputation to the 1000 Genomes Project of four genome-wide association studies of lung cancer in populations of European ancestry (11,348 cases and 15,861 controls) and genotyped an additional 10,246 cases and ... -
The Glioma International Case-Control Study: A Report From the Genetic Epidemiology of Glioma International Consortium.
(2016-01)Decades of research have established only a few etiological factors for glioma, which is a rare and highly fatal brain cancer. Common methodological challenges among glioma studies include small sample sizes, heterogeneity ... -
Anastrozole alone or in combination with tamoxifen versus tamoxifen alone for adjuvant treatment of postmenopausal women with early-stage breast cancer. Results of the ATAC (Arimidex, Tamoxifen Alone or in Combination) trial efficacy and safety update analyses
BACKGROUND: The first analysis of the ATAC (Arimidex, Tamoxifen Alone or in Combination) trial (median follow-up, 33 months) demonstrated that in adjuvant endocrine therapy for postmenopausal patients with early-stage ... -
Direct interaction of FANCD2 with BRCA2 in DNA damage response pathways
Direct interaction of FANCD2 with BRCA2 in DNA damage response pathways Fanconi anaemia (FA) is a chromosomal instability disorder characterized by cellular sensitivity to DNA interstrand crosslinking agents and a high ...
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