scholarly journals Somatic mutations in breast and serous ovarian cancer young patients: a systematic review and meta-analysis

2015 ◽  
Vol 61 (5) ◽  
pp. 474-483 ◽  
Author(s):  
Giselly Encinas ◽  
Simone Maistro ◽  
Fátima Solange Pasini ◽  
Maria Lucia Hirata Katayama ◽  
Maria Mitzi Brentani ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Systematic Review ◽  
Ovarian Cancer ◽  
Somatic Mutation ◽  
Early Onset ◽  
Older Patients ◽  
Somatic Mutations ◽  
Age Groups ◽  
Older Age ◽  
Serous Ovarian Cancer

Summary Objective: our aim was to evaluate whether somatic mutations in five genes were associated with an early age at presentation of breast cancer (BC) or serous ovarian cancer (SOC). Methods: COSMIC database was searched for the five most frequent somatic mutations in BC and SOC. A systematic review of PubMed was performed. Young age for BC and SOC patients was set at ≤35 and ≤40 years, respectively. Age groups were also classified in <30years and every 10 years thereafter. Results: twenty six (1,980 patients, 111 younger) and 16 studies (598, 41 younger), were analyzed for BC and SOC, respectively. In BC, PIK3CA wild type tumor was associated with early onset, not confirmed in binary regression with estrogen receptor (ER) status. In HER2-negative tumors, there was increased frequency of PIK3CA somatic mutation in older age groups; in ER-positive tumors, there was a trend towards an increased frequency of PIK3CA somatic mutation in older age groups. TP53 somatic mutation was described in 20% of tumors from both younger and older patients; PTEN, CDH1 and GATA3 somatic mutation was investigated only in 16 patients and PTEN mutation was detected in one of them. In SOC, TP53 somatic mutation was rather common, detected in more than 50% of tumors, however, more frequently in older patients. Conclusion: frequency of somatic mutations in specific genes was not associated with early-onset breast cancer. Although very common in patients with serous ovarian cancer diagnosed at all ages, TP53 mutation was more frequently detected in older women.

scholarly journals Cyclin E1 is a shared biomarker of subsets of high grade serous ovarian cancer (HGSOC) and basal like breast cancer (BLBC)

2019 ◽  
Vol 30 ◽  
pp. ix86
Author(s):  
D. Aziz ◽  
C. Lee ◽  
V. Chin ◽  
K. Fernandez ◽  
D. Etemadmoghadam ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Ovarian Cancer ◽  
High Grade ◽  
Serous Ovarian Cancer ◽  
Cyclin E1 ◽  
Basal Like Breast Cancer

scholarly journals Germline loss-of-function variants in the BARD1 gene are associated with early-onset familial breast cancer but not ovarian cancer

2019 ◽  
Vol 21 (1) ◽  
Author(s):  
Nana Weber-Lassalle ◽  
Julika Borde ◽  
Konstantin Weber-Lassalle ◽  
Judit Horváth ◽  
Dieter Niederacher ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Ovarian Cancer ◽  
Early Onset ◽  
Familial Breast Cancer ◽  
Loss Of Function

scholarly journals Risk of high-grade serous ovarian cancer associated with pelvic inflammatory disease, parity and breast cancer

2018 ◽  
Vol 55 ◽  
pp. 110-116 ◽  
Author(s):  
Louise M. Stewart ◽  
Katrina Spilsbury ◽  
Susan Jordan ◽  
Colin Stewart ◽  
C. D’Arcy J. Holman ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Ovarian Cancer ◽  
Pelvic Inflammatory Disease ◽  
Inflammatory Disease ◽  
High Grade ◽  
Serous Ovarian Cancer

scholarly journals Integrating Germline and Somatic Mutation Information for the Discovery of Biomarkers in Triple-Negative Breast Cancer

2019 ◽  
Vol 16 (6) ◽  
pp. 1055 ◽  
Author(s):  
Jiande Wu ◽  
Tarun Mamidi ◽  
Lu Zhang ◽  
Chindo Hicks
Keyword(s):  
Breast Cancer ◽  
Somatic Mutation ◽  
Triple Negative Breast Cancer ◽  
Somatic Mutations ◽  
Triple Negative ◽  
Germline Mutations ◽  
Biological Pathways ◽  
Molecular Networks ◽  
Increased Risk ◽  
Mutation Information

Recent advances in high-throughput genotyping and the recent surge of next generation sequencing of the cancer genomes have enabled discovery of germline mutations associated with an increased risk of developing breast cancer and acquired somatic mutations driving the disease. Emerging evidence indicates that germline mutations may interact with somatic mutations to drive carcinogenesis. However, the possible oncogenic interactions and cooperation between germline and somatic alterations in triple-negative breast cancer (TNBC) have not been characterized. The objective of this study was to investigate the possible oncogenic interactions and cooperation between genes containing germline and somatic mutations in TNBC. Our working hypothesis was that genes containing germline mutations associated with an increased risk developing breast cancer also harbor somatic mutations acquired during tumorigenesis, and that these genes are functionally related. We further hypothesized that TNBC originates from a complex interplay among and between genes containing germline and somatic mutations, and that these complex array of interacting genetic factors affect entire molecular networks and biological pathways which in turn drive the disease. We tested this hypothesis by integrating germline mutation information from genome-wide association studies (GWAS) with somatic mutation information on TNBC from The Cancer Genome Atlas (TCGA) using gene expression data from 110 patients with TNBC and 113 controls. We discovered a signature of 237 functionally related genes containing both germline and somatic mutations. We discovered molecular networks and biological pathways enriched for germline and somatic mutations. The top pathways included the hereditary breast cancer and role of BRCA1 in DNA damage response signaling pathways. In conclusion, this is the first large-scale and comprehensive analysis delineating possible oncogenic interactions and cooperation among and between genes containing germline and somatic mutations in TNBC. Genetic and somatic mutations, along with the genes discovered in this study, will require experimental functional validation in different ethnic populations. Functionally validated genetic and somatic variants will have important implications for the development of novel precision prevention strategies and discovery of prognostic markers in TNBC.

scholarly journals Immunohistochemistry for the detection of BRCA1 and BRCA2 proteins in patients with ovarian cancer: a systematic review

2019 ◽  
Vol 73 (4) ◽  
pp. 191-196 ◽  
Author(s):  
Lorena Alves Teixeira ◽  
Francisco Jose Candido dos Reis
Keyword(s):  
Breast Cancer ◽  
Systematic Review ◽  
Ovarian Cancer ◽  
Cancer Type ◽  
Loss Of Function ◽  
Brca1 And Brca2 ◽  
Brca1 Protein ◽  
Current Usage ◽  
Breast Cancer Type

BackgroundLoss of function in either breast cancer type 1 susceptibility protein (BRCA1) or breast cancer type 2 susceptibility protein (BRCA2) is a major risk factor for epithelial ovarian cancer (EOC) development. BRCA1 or BRCA2 deficiencies are associated with short-term prognosis and might have importance for the treatment of women with the disease. However, the screening of all possible mechanisms of dysfunction is expensive, time-consuming and difficult to apply in clinical practice. On the other hand, immunohistochemistry (IHC) is a simple and reliable method to access the expression of several proteins in tumour tissues.Materials and methodsThis systematic review aims to evaluate the current usage of IHC to detect BRCA1 and BRCA2 deficiencies in EOC. We searched and evaluated all primary literature on the use of IHC for evaluating BRCA1 and BRCA2 proteins expression in EOC. The main concepts for the search were: ovarian neoplasms, IHC, BRCA1 and BRCA2.ResultsForty-four studies from 925 unique titles were included. A total of 4206 tumour samples were evaluated for BRCA1 and 1041 for BRCA2 expression. Twelve BRCA1 primary antibodies were used in 41 studies, and the most common was the MS110 clone (75.6%). Seven BRCA2 primary antibodies were used in ten studies. Using the cut-off of 10%, 47.0% of EOCs are associated with loss of BRCA1 and 34.5% with the loss of BRCA2 expression.ConclusionIHC was effective to detect loss of BRCA1 protein expression in EOC; however, data on BRCA2 expression were heterogeneous and difficult to interpret.

Evaluating the impact of a history of breast cancer on outcomes in women with high-grade serous ovarian cancer

2018 ◽  
Vol 149 ◽  
pp. 212
Author(s):  
J. Gillen ◽  
M. Rowland ◽  
A.Y. Liu ◽  
S. Vesely ◽  
B. Powell ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Ovarian Cancer ◽  
High Grade ◽  
Serous Ovarian Cancer ◽  
History Of ◽  
The Impact

Genomic characterization of brain metastases (BM) in high-grade serous ovarian cancer (HGSOC).

2019 ◽  
Vol 37 (15_suppl) ◽  
pp. e13580-e13580
Author(s):  
Renata Duchnowska ◽  
Anna Maria Supernat ◽  
Rafał Pęksa ◽  
Marta Łukasiewicz ◽  
Tomasz Stokowy ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Dna Damage ◽  
Somatic Mutations ◽  
Dna Damage Repair ◽  
Genetic Alterations ◽  
High Grade ◽  
Serous Ovarian Cancer ◽  
Primary Tumors ◽  
Tp53 Mutations ◽  
Damage Repair

e13580 Background: BM are a rare occurrence in ovarian cancer (OC) and their molecular characteristics is virtually unknown. DNA damage repair (DDR) deficiency is prevalent in OC, and co-mutated TP53 and any DDR denotes high tumor mutation burden (TMB). We genetically characterized a unique series of high-grade serous ovarian cancer (HGSOC) patients who developed BM to identify alterations of potential clinical relevance. Methods: Whole-exome sequencing (2x150bp, SureSelectXT Library Prep Kit, Illumina’s NovaSeq platform) was performed in matched BM, primary tumors (PT) and normal tissue. DNA was extracted from FFPE samples using QIAamp DNA FFPE Tissue Kit (Qiagen, Germany). All mutations were checked with Catalogue of Somatic Mutations in Cancer (COSMIC) and Integrative Genomics Viewer (IGV). Results: Study group included 10 HGSOC patients (International Federation of Gynecology and Obstetrics classification (FIGO) II-IV, mean age at diagnosis 48 years, range 35-59). Median time from primary HGSOC diagnosis to BM was 38 months (range, 18 to 149). TP53 somatic mutations were found in both primary tumor (PT) and BM in 8 patients. The other 2 cases harbored TP53 mutations not reported in COSMIC catalogue: p.S60L and intronic TP53 mutation preceding p.I322 (IGV). In 9 cases TP53 mutations coexisted with germline or somatic DNA damage repair deficiency. Four cases contained BRCA1 mutations (all germline), and none harbored germline BRCA2 mutation. Other mutated genes included MLH1 (2 somatic, 2 germline), ATR (4 germline, 1 somatic), AMT (1 somatic), RAD50 (1 somatic), ERCC4 (1 somatic), FANCD2 (1 somatic) and RPA1 (1 germline). Three mutation signatures defined in the COSMIC database were indentified in BM: 6, 20 and 30. In 6 cases these mutations were shared in PT, and in another 4 their presence in PT could not be determined due to technical reasons. Median survival from BM was 31 months (range, 5 to 184). Conclusions: Genomic analysis of BM provides an opportunity to identify potentially clinically informative alterations. Mutational profiles in PT are generally reflected in BM. Detected genetic alterations suggest their potential sensitivity to PARP inhibitors and immunotherapy.

44 Older Patients' Preferences for Surgical Treatment in Early Breast Cancer: a Systematic Review

2012 ◽  
Vol 48 ◽  
pp. S53
Author(s):  
V.C. Hamelinck ◽  
E. Bastiaannet ◽  
A.M. Stiggelbout ◽  
A.H. Pieterse ◽  
A.J.M. de Craen ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Systematic Review ◽  
Surgical Treatment ◽  
Early Breast Cancer ◽  
Older Patients
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