Mutational Signature Analysis Reveals NTHL1 Deficiency to Cause a Multi-Tumor Phenotype Including a Predisposition to Colon and Breast Cancer

2018 ◽  
Author(s):  
Judith E. Grolleman ◽  
Richarda M. de Voer ◽  
Fadwa A. Elsayed ◽  
Maartje Nielsen ◽  
Robbert D. A. Weren ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Signature Analysis ◽  
Mutational Signature ◽  
Tumor Phenotype

scholarly journals Mutational Signature Analysis Reveals NTHL1 Deficiency to Cause a Multi-tumor Phenotype

Cancer Cell ◽  
2019 ◽  
Vol 35 (2) ◽  
pp. 256-266.e5 ◽  
Author(s):  
Judith E. Grolleman ◽  
Richarda M. de Voer ◽  
Fadwa A. Elsayed ◽  
Maartje Nielsen ◽  
Robbert D.A. Weren ◽  
...  
Keyword(s):  
Signature Analysis ◽  
Mutational Signature ◽  
Tumor Phenotype

Circulating estradiol defines the tumor phenotype in menopausal breast cancer patients

Maturitas ◽  
2009 ◽  
Vol 64 (1) ◽  
pp. 43-45 ◽  
Author(s):  
José Schneider ◽  
Silvia Martín-Gutiérrez ◽  
Jesús A. Tresguerres ◽  
Juan A. García-Velasco
Keyword(s):  
Breast Cancer ◽  
Cancer Patients ◽  
Breast Cancer Patients ◽  
Tumor Phenotype

scholarly journals Concordance Between ER, PR, HER2 neu Receptors Before and After Neoadjuvant Chemotherapy in Locally Advanced Breast Cancer

2021 ◽  
Vol 0 (0) ◽  
Author(s):  
Heba F. Taha ◽  
Ola M. Elfarargy ◽  
Reham A. Salem ◽  
Doaa Mandour ◽  
Amira A. Salem ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Neoadjuvant Chemotherapy ◽  
Hormone Receptor ◽  
Growth Hormone Receptor ◽  
Locally Advanced Breast Cancer ◽  
Locally Advanced ◽  
Her2 Status ◽  
Breast Cancer Patients ◽  
Before And After ◽  
Tumor Phenotype

Abstract Background Introducing neoadjuvant chemotherapy (NCT) in a breast cancer patient may be associated with changes in estrogen receptor (ER), progesterone receptor (PR) and human epidermal growth hormone receptor 2 (HER2) status. Method In our prospective cohort study, we evaluated the impact of change in estrogen receptor (ER), progesterone receptor (PR) and human epidermal growth hormone receptor 2 (HER2) on the prognosis of breast cancer patients treated with neoadjuvant chemotherapy (NCT). We investigated 110 patients with locally advanced breast cancer for ER, PR and HER2 status of their lesions before and after NCT. Result For hormone receptor status (HR) (which include ER, PR) of the residual tumor of the patients after receiving NCT, 12 (10.9%) of them changed from HR (+) to HR (−) and 15 (13.6%) changed from HR (−) to HR (+). For HER2 status after NCT, 8 (7.3%) patients changed from HER2 (+) to HER2 (−) and 9 (8.2%) patients changed from HER2 (−) to HER2 (+). Triple negative (TN) tumor phenotype changes occurred in 17 (15.5%) patients. Patients for whom the HR status changed from positive to negative had poor prognosis for both disease-free survival (DFS) and overall survival (OS) in univariate survival analysis. Conclusion Changes in ER, PR, HER2 status and tumor phenotype in breast cancer patients after NCT had a negative prognostic impact and were associated with a poor prognosis.

scholarly journals Learning mutational signatures and their multidimensional genomic properties with TensorSignatures

2019 ◽  
Author(s):  
Harald Vöhringer ◽  
Arne van Hoeck ◽  
Edwin Cuppen ◽  
Moritz Gerstung
Keyword(s):  
Somatic Hypermutation ◽  
Translesion Synthesis ◽  
Strand Break ◽  
Signature Analysis ◽  
Transcription Start ◽  
Mutational Signatures ◽  
Transcription Start Sites ◽  
Mutational Signature ◽  
Cancer Genomes ◽  
Cancer Types

AbstractMutational signature analysis is an essential part of the cancer genome analysis toolkit. Conventionally, mutational signature analysis extracts patterns of different mutation types across many cancer genomes. Here we present TensorSignatures, an algorithm to learn mutational signatures jointly across all variant categories and their genomic context. The analysis of 2,778 primary and 3,824 metastatic cancer genomes of the PCAWG consortium and the HMF cohort shows that practically all signatures operate dynamically in response to various genomic and epigenomic states. The analysis pins differential spectra of UV mutagenesis found in active and inactive chromatin to global genome nucleotide excision repair. TensorSignatures accurately characterises transcription-associated mutagenesis, which is detected in 7 different cancer types. The analysis also unmasks replication- and double strand break repair-driven APOBEC mutagenesis, which manifests with differential numbers and length of mutation clusters indicating a differential processivity of the two triggers. As a fourth example, TensorSignatures detects a signature of somatic hypermutation generating highly clustered variants around the transcription start sites of active genes in lymphoid leukaemia, distinct from a more general and less clustered signature of Polη-driven translesion synthesis found in a broad range of cancer types.Key findingsSimultaneous inference of mutational signatures across mutation types and genomic features refines signature spectra and defines their genomic determinants.Analysis of 6,602 cancer genomes reveals pervasive intra-genomic variation of mutational processes.Distinct mutational signatures found in quiescent and active regions of the genome reveal differential repair and mutagenicity of UV- and tobacco-induced DNA damage.APOBEC mutagenesis produces two signatures reflecting highly clustered, double strand break repair-initiated and lowly clustered replication-driven mutagenesis, respectively.Somatic hypermutation in lymphoid cancers produces a strongly clustered mutational signature localised to transcription start sites, which is distinct from a weakly clustered translesion synthesis signature found in multiple tumour types.

scholarly journals The Breast Cancer Susceptibility Mutation PALB2 1592delT Is Associated with an Aggressive Tumor Phenotype

2009 ◽  
Vol 15 (9) ◽  
pp. 3214-3222 ◽  
Author(s):  
Tuomas Heikkinen ◽  
Hanni Kärkkäinen ◽  
Kirsimari Aaltonen ◽  
Roger L. Milne ◽  
Päivi Heikkilä ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Cancer Susceptibility ◽  
Breast Cancer Susceptibility ◽  
Tumor Phenotype ◽  
Aggressive Tumor ◽  
Aggressive Tumor Phenotype
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