[HTML][HTML] BRCA mutations in ovarian and prostate cancer: bench to bedside
Simple Summary DNA damage is one of the hallmarks of cancer. Epithelial ovarian cancer
(EOC)—especially the high-grade serous subtype—harbors a defect in at least one DNA …
(EOC)—especially the high-grade serous subtype—harbors a defect in at least one DNA …
[HTML][HTML] Endogenous DNA damage as a source of genomic instability in cancer
A Tubbs, A Nussenzweig - Cell, 2017 - cell.com
Genome instability, defined as higher than normal rates of mutation, is a double-edged
sword. As a source of genetic diversity and natural selection, mutations are beneficial for …
sword. As a source of genetic diversity and natural selection, mutations are beneficial for …
Whole genome, transcriptome and methylome profiling enhances actionable target discovery in high-risk pediatric cancer
Abstract The Zero Childhood Cancer Program is a precision medicine program to benefit
children with poor-outcome, rare, relapsed or refractory cancer. Using tumor and germline …
children with poor-outcome, rare, relapsed or refractory cancer. Using tumor and germline …
[HTML][HTML] Genomic predictors of response to PD-1 inhibition in children with germline DNA replication repair deficiency
Cancers arising from germline DNA mismatch repair deficiency or polymerase proofreading
deficiency (MMRD and PPD) in children harbour the highest mutational and microsatellite …
deficiency (MMRD and PPD) in children harbour the highest mutational and microsatellite …
[HTML][HTML] Analysis of 100,000 human cancer genomes reveals the landscape of tumor mutational burden
Background High tumor mutational burden (TMB) is an emerging biomarker of sensitivity to
immune checkpoint inhibitors and has been shown to be more significantly associated with …
immune checkpoint inhibitors and has been shown to be more significantly associated with …
[HTML][HTML] Integrated molecular meta-analysis of 1,000 pediatric high-grade and diffuse intrinsic pontine glioma
A Mackay, A Burford, D Carvalho, E Izquierdo… - Cancer cell, 2017 - cell.com
We collated data from 157 unpublished cases of pediatric high-grade glioma and diffuse
intrinsic pontine glioma and 20 publicly available datasets in an integrated analysis of> …
intrinsic pontine glioma and 20 publicly available datasets in an integrated analysis of> …
[HTML][HTML] Comprehensive analysis of hypermutation in human cancer
We present an extensive assessment of mutation burden through sequencing analysis of>
81,000 tumors from pediatric and adult patients, including tumors with hypermutation caused …
81,000 tumors from pediatric and adult patients, including tumors with hypermutation caused …
Immune checkpoint inhibition for hypermutant glioblastoma multiforme resulting from germline biallelic mismatch repair deficiency
E Bouffet, V Larouche, BB Campbell… - Journal of clinical …, 2016 - ascopubs.org
Purpose Recurrent glioblastoma multiforme (GBM) is incurable with current therapies.
Biallelic mismatch repair deficiency (bMMRD) is a highly penetrant childhood cancer …
Biallelic mismatch repair deficiency (bMMRD) is a highly penetrant childhood cancer …
Infant high-grade gliomas comprise multiple subgroups characterized by novel targetable gene fusions and favorable outcomes
M Clarke, A Mackay, B Ismer, JC Pickles… - Cancer discovery, 2020 - AACR
Infant high-grade gliomas appear clinically distinct from their counterparts in older children,
indicating that histopathologic grading may not accurately reflect the biology of these tumors …
indicating that histopathologic grading may not accurately reflect the biology of these tumors …