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Comprehensive genomic characterization of squamous cell lung cancers
TLDR
It is shown that the tumour type is characterized by complex genomic alterations, with a mean of 360 exonic mutations, 165 genomic rearrangements, and 323 segments of copy number alteration per tumour.
View on Nature
The Molecular Taxonomy of Primary Prostate Cancer
View on Elsevier
Comprehensive Molecular Characterization of Papillary Renal-Cell Carcinoma.
TLDR
Type 1 and type 2 papillary renal-cell carcinomas were shown to be different types of renal cancer characterized by specific genetic alterations, with type 2 further classified into three individual subgroups on the basis of molecular differences associated with patient survival.
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Differential exoprotease activities confer tumor-specific serum peptidome patterns.
TLDR
This study provides a direct link between peptide marker profiles of disease and differential protease activity, and the patterns described may have clinical utility as surrogate markers for detection and classification of cancer.
View on PubMed
Clinicopathologic features of BRCA-linked and sporadic ovarian cancer.
TLDR
Although BRCA-associated hereditary ovarian cancers in this population have surgical and pathological characteristics similar to those of sporadic cancers, advanced-stage hereditary cancer patients survive longer than nonhereditary cancer patients.
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A gene signature predicting for survival in suboptimally debulked patients with ovarian cancer.
TLDR
Confirmation of the predictive gene signature supports the existence of a clinically relevant predictor, as well as the possibility of novel therapeutic opportunities, for suboptimally debulked patients.
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Resistance to therapy caused by intragenic deletion in BRCA2
TLDR
It is shown that resistance to PARP inhibition can be acquired by deletion of a mutation in BRCA2, and new BRCa2 isoforms were expressed in the resistant lines as a result of intragenic deletion of the c.6174delT mutation and restoration of the open reading frame (ORF).
View on Nature
Genome-wide association study provides evidence for a breast cancer risk locus at 6q22.33
TLDR
A three-phase genome-wide association study using cases and controls from a genetically isolated population, Ashkenazi Jews (AJ), to identify loci associated with breast cancer risk found a risk locus in a region of chromosome 6q22.33, which encodes a protein involved in mitochondrial fatty acid oxidation and also RNF146, both known pathways in breast cancer pathogenesis.
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Outcome of preventive surgery and screening for breast and ovarian cancer in BRCA mutation carriers.
TLDR
This study provides prospective evidence that genetic counseling and testing increased surveillance and led to risk-reducing operations, which resulted in diagnosis of early-stage tumors in patients with BRCA1 and BRCa2 mutations.
View on PubMed
Risk-reducing salpingo-oophorectomy in women with a BRCA1 or BRCA2 mutation.
TLDR
Sporting risk-reducing salpingo-oophorectomy in carriers of BRCA mutations can decrease the risk of breast cancer and BRCa-related gynecologic cancer.
View on PubMed
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