scholarly journals 298P Clinical implication of gene alterations revealed by comprehensive genomic profiling and clonal hematopoiesis in relapsed breast cancer patients

2021 ◽  
Vol 32 ◽  
pp. S494
Author(s):  
L. Zhang ◽  
L. Xu ◽  
C. Song ◽  
N. Li ◽  
S. Sun ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Cancer Patients ◽  
Clinical Implication ◽  
Genomic Profiling ◽  
Breast Cancer Patients ◽  
Clonal Hematopoiesis ◽  
Comprehensive Genomic Profiling ◽  
Gene Alterations

Clinical implications of genomic-directed therapies by comprehensive genomic profiling in breast cancer patients at a large academic cancer center.

2017 ◽  
Vol 35 (15_suppl) ◽  
pp. e12037-e12037
Author(s):  
Ricardo Daniel Parrondo ◽  
Veronica Mariotti ◽  
Miguel Gonzalez Velez ◽  
Lori Ann Leslie
Keyword(s):  
Breast Cancer ◽  
Clinical Trials ◽  
Cancer Patients ◽  
Pik3ca Mutation ◽  
Clinical Impact ◽  
Cancer Center ◽  
Genomic Profiling ◽  
Breast Cancer Patients ◽  
Comprehensive Genomic Profiling ◽  
Genomic Characterization

e12037 Background: Increased use of comprehensive genomic profiling (CGP) has recently led to improved genomic characterization of tumors, increased access to individualized therapies and increased availability of clinical trials in breast cancer patients. The aim of this study was to evaluate the clinical impact of genomic profiling in breast cancer patients with the use of a CGP assay at a large cancer center. Methods: We retrospectively analyzed 101 consecutive breast cancer patients who received CGP at the John Theurer Cancer Center between 12/2011 and 08/2016. Genomic alterations (GAs) were identified using the FoundationOne assay (Foundation Medicine, Cambridge, MA). GAs, number of available genomic-directed therapies and number of available clinical trials were reviewed. The CGP interrogated up to 315 genes and introns of 28 genes. Results: Median age at diagnosis was 58 years (range: 35-83 years). With a median follow-up of 189 months (range 1-189), median survival was 163 months (range 142-184). A total of 560 GAs were found in our population, with a median of 5.0 GAs/sample (range 0-16), a median of 2.0 therapies/patient (range 0-11), and a median of 11.0 clinical trials/patient (range 0-36). The most frequent GAs found were TP53 (47.5%, n = 48), PIK3CA (34.7%, n = 35), MYC (22.8%, n = 23), CCND1 (19.8%, n = 20), FGF3 (16.8%, n = 17), FGF4 (15.8%, n = 16), and ZNF703 (14.9%, n = 15). A significant positive correlation was found between number of GAs and the number of available targeted therapies and clinical trials (r = 0.5 and r = 0.7, p = 0.00, respectively). Increasing age is a predictor of having a PIK3CA mutation (OR = 1.05; CI:1.01-1.09, p = 0.00) while decreasing age is a predictor of having a MYC mutation by logistic regression (OR = 0.95; CI:0.91-0.95, p = 0.03). Conclusions: The systematic use of CGP led to the identification of a high number of GAs, which correlated with a median of 2.0 individualized therapies and a median of 11.0 clinical trials available for breast cancer patients. The clinical impact of genomic-directed individualized therapies needs to be further investigated in prospective, randomized studies.

scholarly journals Clinical implication of PLR and PD-L1 in breast cancer patients

2017 ◽  
Vol 28 ◽  
pp. v29-v30
Author(s):  
S. Wang ◽  
Q. Lu ◽  
T. Qin ◽  
F. Xu ◽  
Y. Zeng ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Cancer Patients ◽  
Clinical Implication ◽  
Breast Cancer Patients

TP53 andMYC gene alterations independently predict poor prognosis in breast cancer patients

1996 ◽  
Vol 16 (3) ◽  
pp. 170-179 ◽  
Author(s):  
Els M.J. J. Berns ◽  
Jan G. M. Klijn ◽  
Marcel Smid ◽  
Iris L. van Staveren ◽  
Maxime P. Look ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Cancer Patients ◽  
Poor Prognosis ◽  
Breast Cancer Patients ◽  
Gene Alterations

scholarly journals Li-Fraumeni syndrome: not a straightforward diagnosis anymore—the interpretation of pathogenic variants of low allele frequency and the differences between germline PVs, mosaicism, and clonal hematopoiesis

2019 ◽  
Vol 21 (1) ◽  
Author(s):  
Felipe Batalini ◽  
Ellie G. Peacock ◽  
Lindsey Stobie ◽  
Alison Robertson ◽  
Judy Garber ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Cancer Patients ◽  
Cancer Susceptibility ◽  
Somatic Mosaicism ◽  
Susceptibility Genes ◽  
Breast Cancer Patients ◽  
Li Fraumeni Syndrome ◽  
Clonal Hematopoiesis ◽  
Pathogenic Variants ◽  
Cancer Susceptibility Genes

Abstract The introduction of next-generation sequencing has resulted in testing multiple genes simultaneously to identify inherited pathogenic variants (PVs) in cancer susceptibility genes. PVs with low minor allele frequencies (MAFs) (< 25–35%) are highlighted on germline genetic test reports. In this review, we focus on the challenges of interpreting PVs with low MAF in breast cancer patients undergoing germline testing and the implications for management. The clinical implications of a germline PV are substantial. For PV carriers in high-penetrance genes like BRCA1, BRCA2, and TP53, prophylactic mastectomy is often recommended and radiation therapy avoided when possible for those with Li-Fraumeni syndrome (LFS). For germline PV carriers in more moderate-risk genes such as PALB2, ATM, and CHEK2, annual breast MRI is recommended and prophylactic mastectomies considered for those with significant family histories. Detection of PVs in cancer susceptibility genes can also lead to recommendations for other prophylactic surgeries (e.g., salpingo-oophorectomy) and increased surveillance for other cancers. Therefore, recognizing when a PV is somatic rather than germline and distinguishing somatic mosaicism from clonal hematopoiesis (CH) is essential. Mutational events that occur at a post-zygotic stage are somatic and will only be present in tissues derived from the mutated cell, characterizing classic mosaicism. Clonal hematopoiesis is a form of mosaicism restricted to the hematopoietic compartment. Among the genes in multi-gene panels used for germline testing of breast cancer patients, the detection of a PV with low MAF occurs most often in TP53, though has been reported in other breast cancer susceptibility genes. Distinguishing a germline TP53 PV (LFS) from a somatic PV (TP53 mosaicism or CH) has enormous implications for breast cancer patients and their relatives. We review how to evaluate a PV with low MAF. The identification of the PV in another tissue confirms mosaicism. Older age, exposure to chemotherapy, radiation, and tobacco are known risk factors for CH, as is the absence of a LFS-related cancer in the setting of a TP53 PV with low MAF. The ability to recognize and understand the implications of somatic PVs, including somatic mosaicism and CH, enables optimal personalized care of breast cancer patients.

scholarly journals Genomic Profiling of Viable and Proliferative Micrometastatic Cells from Early-Stage Breast Cancer Patients

2004 ◽  
Vol 10 (10) ◽  
pp. 3457-3464 ◽  
Author(s):  
Rainer Gangnus ◽  
Sabine Langer ◽  
Elisabeth Breit ◽  
Klaus Pantel ◽  
Michael R. Speicher
Keyword(s):  
Breast Cancer ◽  
Cancer Patients ◽  
Early Stage ◽  
Early Stage Breast Cancer ◽  
Genomic Profiling ◽  
Breast Cancer Patients

scholarly journals Clinical implications of prospective genomic profiling of metastatic breast cancer patients

2020 ◽  
Vol 22 (1) ◽  
Author(s):  
Courtney T. van Geelen ◽  
Peter Savas ◽  
Zhi Ling Teo ◽  
Stephen J. Luen ◽  
Chen-Fang Weng ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Metastatic Breast Cancer ◽  
Cancer Patients ◽  
Metastatic Breast ◽  
Clinical Implications ◽  
Genomic Profiling ◽  
Breast Cancer Patients
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