Relevant bibliographies by topics / Germline Genetic Variants

Contents

  1. Journal articles
  2. Dissertations / Theses
  3. Books
  4. Book chapters
  5. Conference papers

Academic literature on the topic 'Germline Genetic Variants'

Author: Grafiati
Published: 9 September 2021
Last updated: 29 July 2025

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Journal articles on the topic "Germline Genetic Variants"

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Khanna, Shivani, Steven Brad Maron, Leah Chase, Samantha Lomnicki, Sonia Kupfer, and Daniel V. T. Catenacci. "Suspected and confirmed germline variants from tumor-only somatic sequencing of 864 gastrointestinal malignancies." Journal of Clinical Oncology 37, no. 15_suppl (2019): e13131-e13131. http://dx.doi.org/10.1200/jco.2019.37.15_suppl.e13131.

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e13131 Background: Targeted tumor-only somatic sequencing informs therapies and is becoming a routine part of cancer care. It also identifies patients with possible germline variants who require confirmatory genetic testing. The aim was to identify patients with suspected and confirmed germline variants whose GI tumors underwent somatic sequencing. Methods: 864 patients with GI tumors who had Foundation One (FO) somatic sequencing from 4/2003-3/2018 were evaluated. Inclusion criteria for suspected germline variants were: a) allele frequency ≥ 35% in hereditary cancer genes and b) pathogenic va
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Bokor, Barbara Anna, Aliasgari Abdolreza, Flóra Kaptás, et al. "Novel FANCI and RAD54B Variants and the Observed Clinical Outcomes in a Hungarian Melanoma Cohort." International Journal of Molecular Sciences 26, no. 1 (2024): 23. https://doi.org/10.3390/ijms26010023.

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Accumulating evidence suggests that inherited melanoma is not rare and approx. one in seven individuals with melanoma has clinically relevant hereditable cancer-predisposing and/or -susceptibility variant(s). Concerning its germline genetic background, genetic screening aims to identify either variants of predisposing genes with high penetrance or variants of susceptibility genes with medium or low penetrance. However, less attention is paid to genetic testing of germline variants of genes influencing patients’ survival outcomes or enhancing the design of new therapies. We aimed to investigate
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Michalski, Scott T., Daniel Esteban Pineda Alvarez, Meaghan Russell, Shan Yang, Guru Sonpavde, and Edward D. Esplin. "Tumor sequencing with germline genetic testing: Identification of patients with hereditary cancer and precision treatment eligibility." Journal of Clinical Oncology 37, no. 15_suppl (2019): 1580. http://dx.doi.org/10.1200/jco.2019.37.15_suppl.1580.

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1580 Background: Cancer is a fundamentally genetic disease, as such, somatic and germline mutation analysis is used in the comprehensive assessment of patients with cancer. Studies report that approximately 10% of patient’s tumors have clinically significant variants known to predispose to hereditary cancer, with medical implications for both patients and family members. We retrospectively reviewed a series of patients where providers suspected a somatic variant also existed in the germline and followed up with clinical germline genetic testing. We report the rate of concordance between germli
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Harmon, Lauren, Zachary S. Hattig, Yizhou Peter Huang, et al. "Germline Variant Burden Warrants Universal Genetic Testing in Pediatric AML." Blood 144, Supplement 1 (2024): 4092. https://doi.org/10.1182/blood-2024-210515.

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Acute myeloid leukemia (AML) is the most lethal of pediatric leukemias. Due to its rarity, the contribution of germline genetics to pediatric AML etiology is poorly understood. Here we investigated deleterious germline variants in the largest whole-genome sequenced (WGS) pediatric AML cohort to date, combining TARGET-21 (N=29) and COG-AAML1031 (N=336) for a total of 365 patients. WGS data from 29 subjects included non-hematopoietic fibroblasts expanded from marrow; 336 subjects had matched diagnosis/remission/relapse marrow samples. Variants were considered likely germline if present at varian
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Ricker, Charité, Erika Amundson, Sandra Algaze, et al. "Assessing somatic and germline variants in cancer patients." Journal of Clinical Oncology 39, no. 15_suppl (2021): 10601. http://dx.doi.org/10.1200/jco.2021.39.15_suppl.10601.

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10601 Background: The increasing integration of somatic and germline testing into oncology practice allows physicians to target oncologic therapy and identify those with cancer predisposition. We explored the impact of a somatic assay (liquid biopsy, LB) on the identification of patients appropriate for germline genetic testing. Methods: We identified a cohort of diverse cancer patients with LB to assess for targetable somatic gene variants at LAC+USC Medical Center between 2016 and 2020 (n= 467). To enrich the cohort for variants that may reflect germline findings, we focused on the 46 patien
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Nitschke, Nikolaj Juul, Marwa Almosailleakh, Yiyuan Niu, et al. "Frequency and Functional Characterization of RUNX1 Germline Variants in Myeloid Neoplasms." Human Mutation 2023 (June 2, 2023): 1–11. http://dx.doi.org/10.1155/2023/4738660.

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Current estimates suggest that up to 10% of patients with myeloid neoplasms (MN) harbor variants associated with a germline predisposition. A pathogenic variant in the runt-related transcription factor 1 gene (RUNX1) is a frequent cause of germline predisposition to MN. RUNX1 variants detected in tumor tissue at a VAF close to 50% are potentially germline and causative of RUNX1 familial platelet disorder with associated myeloid malignancies. Previous studies have found germline RUNX1 variants in 3% of patients with acute myeloid leukemia; however, the frequency of germline RUNX1 variants in le
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Spurdle, Amanda B., Stephanie Greville-Heygate, Antonis C. Antoniou, et al. "Towards controlled terminology for reporting germline cancer susceptibility variants: an ENIGMA report." Journal of Medical Genetics 56, no. 6 (2019): 347–57. http://dx.doi.org/10.1136/jmedgenet-2018-105872.

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The vocabulary currently used to describe genetic variants and their consequences reflects many years of studying and discovering monogenic disease with high penetrance. With the recent rapid expansion of genetic testing brought about by wide availability of high-throughput massively parallel sequencing platforms, accurate variant interpretation has become a major issue. The vocabulary used to describe single genetic variants in silico, in vitro, in vivo and as a contributor to human disease uses terms in common, but the meaning is not necessarily shared across all these contexts. In the setti
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dos Santos, Wellington, Edilene Santos de Andrade, Felipe Antonio de Oliveira Garcia, et al. "Whole-Exome Sequencing Identifies Pathogenic Germline Variants in Patients with Lynch-Like Syndrome." Cancers 14, no. 17 (2022): 4233. http://dx.doi.org/10.3390/cancers14174233.

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Lynch syndrome (LS) is the most common hereditary colorectal cancer (CRC) syndrome, characterized by germline pathogenic variants in mismatch repair (MMR)-related genes that lead to microsatellite instability. Patients who meet the clinical criteria for LS and MMR deficiency and without any identified germline pathogenic variants are frequently considered to have Lynch-like syndrome (LLS). These patients have a higher risk of CRC and extracolonic tumors, and little is known about their underlying genetic causes. We investigated the germline spectrum of LLS patients through whole-exome sequenci
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Cherbal, Farid, Asma-Lamia Boumehdi, Feriel Khider, et al. "Abstract 4177: Genetic testing for hereditary colorectal cancer syndromes in Algerian patients: A multicenter study." Cancer Research 83, no. 7_Supplement (2023): 4177. http://dx.doi.org/10.1158/1538-7445.am2023-4177.

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Abstract Background To date, 5% to 6 % of all colorectal cancers (CRCs) are associated with germline pathogenic variants in cancer predisposition genes that confer inherited predisposition to CRC. The use of genetic testing to identify individuals at risk for hereditary CRC syndromes can help to prevent the development of cancer and in the clinical management of the colorectal patients in the areas of both prevention and treatment. We report here the experience of our research laboratory of genetic testing for hereditary polyposis syndromes and Lynch syndrome (LS), respectively, in 126 patient
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Aldubayan, Saud H., Jake Conway, Leora Witkowski, et al. "Expanding the diagnostic yield of germline genetic testing in cancer patients using deep learning." Journal of Clinical Oncology 38, no. 15_suppl (2020): 1518. http://dx.doi.org/10.1200/jco.2020.38.15_suppl.1518.

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1518 Background: Germline genetic analysis is an essential tool for implementing precision cancer prevention and treatment. However, only a small fraction of cancer patients, even those with features suggestive of a cancer-predisposition syndrome, have detectable pathogenic germline events, which may in part reflect incomplete pathogenic variant detection by current gold-standard methods. Here, we leveraged deep learning approaches to expand the diagnostic utility of genetic analysis in cancer patients. Methods: Systematic analysis of the detection rate of pathogenic cancer-predisposition vari
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Dissertations / Theses on the topic "Germline Genetic Variants"

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Zeron-Medina, Cuairan Jorge. "The identification and characterisation of germline genetic variants that affect human cancer." Thesis, University of Oxford, 2013. http://ora.ox.ac.uk/objects/uuid:8942602e-c0f8-4793-8020-d2eadd41b252.

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Single nucleotide polymorphisms (SNPs) have great potential to serve as important biomarkers in the clinic to identify those at increased risk for developing cancer, progressing more rapidly, and not responding to therapies. However, the clinical application of cancer-associated SNPs has proven to be more complicated than expected. One of the necessary steps will certainly be the description of the molecular and cellular mechanisms behind the observed associations. The p53 tumour suppressor pathway harbours well-described SNPs that affect p53 signalling and cancer. The aim of the work presente
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Inagaki(Kawata), Yukiko. "Genetic and clinical landscape of breast cancers with germline BRCA1/2 variants." Doctoral thesis, Kyoto University, 2021. http://hdl.handle.net/2433/263544.

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Donati, B. "IDENTIFICATION OF RARE AND COMMON GENETIC VARIANTS ASSOCIATED WITH HEPATOCELLULAR CARCINOMA IN PATIENTS WITH NONALCOHOLIC FATTY LIVER DISEASE: MECHANISMS AND CLINICAL IMPLICATIONS." Doctoral thesis, Università degli Studi di Milano, 2017. http://hdl.handle.net/2434/493452.

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Nonalcoholic fatty liver disease (NAFLD) affects roughly 30% of the general population and its prevalence is increasing worldwide, in particular in Western countries where it is projected to become the main cause of hepatocellular carcinoma (HCC) within 2025. Although the majority of NAFLD progressing towards HCC are individuals with advanced fibrosis, NAFLD-HCC frequently develops even in patients without cirrhosis. Family history and genetic factors play an important role in the pathogenesis of progressive NAFLD and of HCC. Our hypothesis is that both common and rare variants may have a role
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Li, Samuel. "Rare Germline Variant Contributions to Myeloid Malignancy Susceptibility." Case Western Reserve University School of Graduate Studies / OhioLINK, 2020. http://rave.ohiolink.edu/etdc/view?acc_num=case158654099909817.

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Stringa, Blerta. "The effect of germline variants on the genesis of early somatic events in cancer explored via Cas9 genome editing." Doctoral thesis, Università degli studi di Trento, 2019. http://hdl.handle.net/11572/242372.

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Although the understanding of genetic predisposition to prostate cancer (PCa) has been improved through genome-wide association studies (GWAS), little is known about the biological implication of germline variants residing in coding or non-coding regions in cancer development and progression. Our hypothesis is that inherited variants may predispose to specific early recurrent genomic events observed in PCa adenocarcinomas, possibly in the context of variable androgen receptor (AR) signaling that changes during a man’s lifetime. Recent in silico analysis by our group on potential association b
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Stringa, Blerta. "The effect of germline variants on the genesis of early somatic events in cancer explored via Cas9 genome editing." Doctoral thesis, Università degli studi di Trento, 2019. http://hdl.handle.net/11572/242372.

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Although the understanding of genetic predisposition to prostate cancer (PCa) has been improved through genome-wide association studies (GWAS), little is known about the biological implication of germline variants residing in coding or non-coding regions in cancer development and progression. Our hypothesis is that inherited variants may predispose to specific early recurrent genomic events observed in PCa adenocarcinomas, possibly in the context of variable androgen receptor (AR) signaling that changes during a man’s lifetime. Recent in silico analysis by our group on potential association b
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Mazhar, Sahar. "Somatic and Germline Disruption of Protein Phosphatase 2A in Cancer: Challenges of Using Established Tools to Study PP2A Inhibition." Case Western Reserve University School of Graduate Studies / OhioLINK, 2020. http://rave.ohiolink.edu/etdc/view?acc_num=case1586544441054455.

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Duarte, Teresa Patrícia da Silva Gil. "Candidate Germline Genetic Variants for Familial Colorectal Cancer Type X." Master's thesis, 2017. http://hdl.handle.net/10362/27103.

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Familial colorectal cancer type X (FCCTX) defines families that fulfill the Amsterdam criteria without evidence of defects in the DNA mismatch repair (MMR) genes and whose tumors do not present microsatellite instability. However, its genetic etiology remains unknown, therefore this study aimed to identify and evaluate novel variants and candidate genes that may play a role in FCCTX susceptibility. Based on a previous whole exome sequencing (WES) study in a FCCTX family, a bioinformatic analysis and a subsequent in silico and segregation studies were conducted to identify candidate genes and/o
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Madubata, Chioma. "Genomic and machine-learning analysis of germline variants in cancer." Thesis, 2018. https://doi.org/10.7916/D8D524FQ.

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Cancer often develops from specific DNA alterations, and these cancer-associated mutations influence precision cancer treatment. These alterations can be specific to the tumor DNA (somatic mutations) or they can be heritable and present in normal and tumor DNA (germline mutations). Germline variants can affect how patients respond to therapy and can influence clinical surveillance of patients and their families. While identifying cancer-associated germline variants traditionally required studying families with inherited cancer predispositions, large-scale cancer sequencing cohorts enable alter
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Books on the topic "Germline Genetic Variants"

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Penney, Kathryn L., Kyriaki Michailidou, Deanna Alexis Carere, et al. Genetic Epidemiology of Cancer. Oxford University Press, 2017. http://dx.doi.org/10.1093/oso/9780190238667.003.0005.

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Chapter 5 reviews epidemiologic studies conducted to identify germline (inherited) susceptibility loci. These studies can involve associations observed within high-risk family pedigrees or in large studies of unrelated individuals. The chapter reviews the methods used to estimate the aggregate contribution of inherited genetic susceptibility and to identify specific genetic loci associated with risk. Although there is considerable variability across cancers, most cancers exhibit familial clustering, driven in part by a small number of known rare variants with large relative risks and a larger
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Book chapters on the topic "Germline Genetic Variants"

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Goh, Chee Leng, and Rosalind Anne Eeles. "Germline Genetic Variants Associated with Prostate Cancer and Potential Relevance to Clinical Practice." In Prostate Cancer Prevention. Springer Berlin Heidelberg, 2014. http://dx.doi.org/10.1007/978-3-642-45195-9_2.

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Alavanda, Ceren. "Duchenne Muscular Dystrophy: Clinical Characteristics, Molecular Mechanisms and Management." In Molecular Approaches in Medicine. Nobel Tip Kitabevleri, 2024. http://dx.doi.org/10.69860/nobel.9786053359524.9.

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The dystrophinopathies encompass a range of X-linked muscle disorders varying from mild to severe, including Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD), and DMD-associated dilated cardiomyopathy (DCM). DMD typically manifests in early childhood and progresses rapidly, with affected children becoming wheelchair-dependent by the age of 12. Increased serum CK levels are detected in almost all DMD patients. Pathogenic variants in the DMD gene affect dystrophin expression, leading to DMD. More than four thousand pathogenic variants have been identified in the DMD gene. delet
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Jennings, Barbara, Nandu Thalange, and Gavin Willis. "Mutations and Genetic Variation." In Genetics in Medicine. Oxford University Press, 2020. http://dx.doi.org/10.1093/hesc/9780198841555.003.0002.

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This chapter introduces mutations and genetic variation. It looks at how mutations could alter DNA sequences. A mutation is a rare heritable change in the nucleotide sequence. The chapter then notes the functional impact of mutations on phenotypes like genetic nomenclature, before comparing the impact of germline and somatic mutations on health and diseases. In addition, it presents key terms of genetic variants such as private mutation, rare variant, and polymorphism. It then examines the application of human genetic variation in medical practice. The chapter also considers genetic counsellin
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Justice, Monica J. "Mutagenesis of the mouse germline." In Mouse Genetics and Transgenics. Oxford University PressOxford, 1999. http://dx.doi.org/10.1093/oso/9780199637096.003.0009.

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Abstract Concern about genetic risk from radiation and chemicals has, in the past, directed the research of germline mutagens in the mouse. Now, however, the Human Genome Project compels functional studies of the mammalian genome (1). This requires new mutations, changing the focus for mouse mutagenesis from studies of genetic risk to isolating new variants at a high frequency (2,3). The value of mutagenesis in the mouse is compounded by the highly developed comparative genetic linkage map between mouse and human, which allows mammalian gene functions to be defined in conserved regions and pro
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Best, Megan. "Psychosocial Issues in Genomic Testing, Including Genomic Testing for Targeted Therapies." In Psycho-Oncology, edited by Paul B. Jacobsen. Oxford University Press, 2021. http://dx.doi.org/10.1093/med/9780190097653.003.0016.

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Psychosocial issues in genomic testing are an emerging area of investigation. As the growth in understanding of the molecular basis of cancer leads to a new way of characterizing cancer, a different therapeutic landscape has developed for both physicians and patients. Two types of genomic testing are currently used in clinical oncology. Molecular tumor profiling (somatic testing) involves testing tumor tissue with the aim of identifying targeted treatment or to guide therapy. Germline genomic sequencing (germline testing) is used to identify increased cancer risk to personalize preventative st
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Plotkin, Scott R., D. Gareth Evans, Jay S. Loeffler, Sonia Partap, Shota Tanaka, and Anat Stemmer-Rachamimov. "Non-NF2-related schwannomatosis and rhabdoid tumor predisposition syndrome." In Oxford Textbook of Neuro-Oncology, 2nd ed., edited by Tracy Batchelor and Michael Weller. Oxford University PressOxford, 2025. https://doi.org/10.1093/med/9780198869702.003.0031.

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Abstract This chapter reviews non-NF2-related schwannomatosis (i.e., forms of schwannomatosis unrelated to germline/mosaic variants in NF2) and rhabdoid tumor predisposition syndrome including the epidemiology of these conditions and a discussion of revised diagnostic criteria (as of 2022). It reviews the genetic basis of these conditions with a focus on allelic disorders that share genetic loci but have different clinical phenotypes including SMARCB1-related schwannomatosis and rhabdoid tumor predisposition syndrome. It covers key clinical aspects, including clinical presentation and recommen
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Cook, Linda S., Jennifer A. Doherty, Noel S. Weiss, and Chu Chen. "Endometrial Cancer: Epidemiology and Molecular Endocrinology." In Hormones, Genes, And Cancer. Oxford University PressNew York, NY, 2003. http://dx.doi.org/10.1093/oso/9780195135763.003.0020.

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Abstract Current evidence indicates that exposure of the endometrium to high circulating levels of estrogens increases the likelihood of developing endometrial cancer. Conversely, there is evidence that progestogens (both endogenous and exogenous) have a beneficial effect in terms of reducing the occurrence of endometrial cancer. The actions of many other known or suspected factors that can alter endometrial cancer risk, such as obesity, reproductive characteristics, certain medical conditions, and cigarette smoking, may be explained at least in part by their influence on estrogen and progesto
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Lesueur, Fabienne, and Thérèse Truong. "Genetic Susceptibility to Differentiated Thyroid Cancer." In Thyroid Cancer - The Road From Genes to Successful Treatment [Working Title]. IntechOpen, 2022. http://dx.doi.org/10.5772/intechopen.107831.

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Differentiated thyroid carcinoma (DTC) represents more than 90% of all thyroid cancer histological types. Its incidence has increased at a faster rate than most other malignancies during the last three decades and varies considerably around the world. The familial form of the disease has also become more common than previously reported, accounting for 5−15% of DTC cases. The main established risk factor of thyroid cancer is exposure to ionizing radiation, particularly if occurred during childhood. Thyroid cancer (including DTC) is also characterized by having one of the highest familial risks
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Martin, Niamh M., Karim Meeran, and Stephen R. Bloom. "Multiple endocrine neoplasia type 2." In Oxford Textbook of Endocrinology and Diabetes. Oxford University Press, 2011. http://dx.doi.org/10.1093/med/9780199235292.003.0682.

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Multiple endocrine neoplasia type 2 (MEN 2) is a rare cancer susceptibility syndrome which has at least three distinct variants: MEN 2A, MEN 2B, and familial medullary thyroid carcinoma (FMTC). The syndrome was first described by John Sipple in 1961 (1). The features of MEN 2A and its clinical variants are outlined in Box 6.12.1. Medullary thyroid carcinoma (MTC) is seen in all variants of MEN 2A and is frequently the earliest neoplastic manifestation, reflecting its earlier and overall higher penetrance. MEN 2 is due to the autosomal dominant inheritance of a germline missense mutation in the
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Schmidt, Marjanka K., Alexandra J. van den Broek, Mark E. Robson, et al. "Genetics." In Breast cancer: Global quality care, edited by Hans Junkermann, Wolfgang Buchberger, Sylvia Heywang-Köbrunner, et al. Oxford University Press, 2019. http://dx.doi.org/10.1093/med/9780198839248.003.0021.

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Abstract: About 10–30% of breast cancers are estimated to be explained by known (mostly modifiable) lifestyle and environmental factors; this is population dependent. Another 20–30% of breast cancers can be explained by germline genetics. For women with pathogenic BRCA1 and BRCA2 mutations, the risk of developing breast cancer is estimated to be between 27% and 80% by age 70 years, compared to a 4–12% lifetime risk for the general female population worldwide. Pathogenic mutations in BRCA1 increase risk for ovarian cancer as well as for a range of other tumours. After genetic testing, the gene
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Conference papers on the topic "Germline Genetic Variants"

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Brianese, Rafael Canfield, Karina Miranda Santiago, Giovana Tardin Torrezan, et al. "MULTIGENE GERMLINE NGS TESTING IN TRIPLENEGATIVE BREAST CANCER (TNBC)." In Brazilian Breast Cancer Symposium 2022. Mastology, 2022. http://dx.doi.org/10.29289/259453942022v32s2006.

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Objective: Triple-negative breast cancer (TNBC) is a breast cancer subtype strongly associated with BRCA1 germline mutations that are involved in homologous recombination DNA repair deficiency (HRD). Tumors with HRD may benefit from DNA-damage-inducing agents and PARP inhibitors. We aim to characterize germline mutations in HRD-related genes in TNBC and associate them with clinical data. Methods: TNBC patients (n=117) attending the A.C.Camargo Cancer Center had genetic testing performed by NGS (26–127 cancer predisposition gene panels) in leukocyte/saliva DNA. When possible, germline variants
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Brianese, Rafael Canfield, Giovana Tardin Torrezan, Marina de Brot Andrade, et al. "INVESTIGATION OF CIRCULATING TUMOR DNA (CTDNA) IN PATIENTS WITH NON-METASTATIC TRIPLE-NEGATIVE BREAST CANCER (TNBC) SUBMITTED TO NEOADJUVANT CHEMOTHERAPY." In Brazilian Breast Cancer Symposium 2022. Mastology, 2022. http://dx.doi.org/10.29289/259453942022v32s2015.

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Objective: Loss-of-function germline mutation in BRCA1 increases breast cancer risk, especially in the triple-negative breast cancer (TNBC) subtype. BRCA1 impairment may confer benefit from the treatment with DNA damage-inducing drugs and PARP1 inhibitors. Patients who respond to neoadjuvant chemotherapy tend to have good outcomes. The aim of this study was to characterize the resistance to chemotherapy in patients with germline-characterized TNBC by investigating somatic mutations in ctDNA. Methods: Germline genetic testing was done using cancer-predisposing gene panels (26–126 genes) to clas
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Oliveira, Leandro Gonçalves, Ana Claudia Gonçalves Lima, Deidimar Cássia Batista Abreu, et al. "BRCA1 AND BRCA2 germline pathogenic variants in Brazilian breast cancer patients from a private oncologic service in Goiânia, Goiás." In Brazilian Breast Cancer Symposium 2024. Mastology, 2024. http://dx.doi.org/10.29289/259453942024v34s1043.

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Objective: The objective of this study was to evaluate the clinical and pathological characteristics of a group of breast cancer (BC) patients presenting germline pathogenic variants (PV) in the BRCA1 and BRCA2 genes. Methodology: This descriptive study was approved by the Research Ethics Committee of PUC Goiás and comprised the retrospective analysis (clinical, genetic, and histopathological) of patients with BC and PV in BRCA1/BRCA2 genes, treated at a tertiary oncologic service. Results: Among 52 patients, 51 were women. The average age for the group was 42.3 years (±11.8 years). An expande
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Larsen, Victoria L., William E. Barlow, Jun J. Yang, et al. "Abstract 2032: Germline genetic variants in GATA3 and breast cancer treatment outcomes in SWOG 8897 trial." In Proceedings: AACR 107th Annual Meeting 2016; April 16-20, 2016; New Orleans, LA. American Association for Cancer Research, 2016. http://dx.doi.org/10.1158/1538-7445.am2016-2032.

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Lima, Fernanda Teresa de, Madeleyne Beatriz Boado Quiroga Cardenas, Gabriela de Almeida Vasconcelos Costa, et al. "MALE BREAST CANCER ASSOCIATED WITH A LARGE DELETION IN BLM GENE – REPORT OF A CASE." In Brazilian Breast Cancer Symposium 2022. Mastology, 2022. http://dx.doi.org/10.29289/259453942022v32s2077.

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Malignant breast neoplasm in men is rare, corresponding to less than 1% of all breast neoplasms, and 100 times less frequent than in women. It is molecularly different from female breast cancer, and germline pathogenic mutations in genes aside from BRCAs have been recently associated with an increased risk of male breast cancer. Here, we report an elderly male, 71 years old, with a malignant neoplasm in the left breast, with positive hormone receptors, HER2-negative, and Ki-67 of 25%. A modified radical mastectomy was performed, and the surgical specimen showed a micropapillary invasive mammar
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Rodrigues, Milena de Freitas, Ariane Silva da Rocha, David Siqueira Gonçalves, Maria Paula Curado, and Maria Nirvana da Cruz Formiga. "Hereditary cancer syndromes in patients with second primary breast cancer." In Brazilian Breast Cancer Symposium 2023. Mastology, 2023. http://dx.doi.org/10.29289/259453942023v33s1067.

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Objective: The objective of this study was to evaluate the presence of hereditary cancer syndromes (HCS) in patients with a diagnosis of two primary breast carcinomas and analyze the frequency of pathogenic variants in high- and moderatepenetrance genes. Methodology: This is a retrospective unicentric cohort study on patients with a diagnosis of two primary breast cancers, diagnosed between January 2000 to December 2020, at A.C. Camargo Cancer Center, Brazil. The association between categorical variables was analyzed by the chi-square test or Fisher’s exact test. For survival curves, the Kapla
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Makhoul, Issam, Robert Griffin, Stephen Erickson, et al. "Abstract 2825: Germline genetic variants inANGPT1&2andFGF2are associated with pathologic complete response to bevacizumab in breast cancer patients." In Proceedings: AACR Annual Meeting 2014; April 5-9, 2014; San Diego, CA. American Association for Cancer Research, 2014. http://dx.doi.org/10.1158/1538-7445.am2014-2825.

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Ning, Lvwen, Josephine Mun Yee Ko, Lisa Chan Lei, Li Dong Wang, and Maria Li Lung. "Abstract 423: Investigating the germline deleterious rare variants for genetic susceptibility of esophagus squamous cell carcinomas by target sequencing." In Proceedings: AACR Annual Meeting 2018; April 14-18, 2018; Chicago, IL. American Association for Cancer Research, 2018. http://dx.doi.org/10.1158/1538-7445.am2018-423.

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Yu, K.-D., Z.-M. Shao, and A.-X. Chen. "P2-07-02: Germline Genetic Variants Disturbing the Let-7/LIN28 Double-Negative Feedback Loop Alter Breast Cancer Susceptibility." In Abstracts: Thirty-Fourth Annual CTRC‐AACR San Antonio Breast Cancer Symposium‐‐ Dec 6‐10, 2011; San Antonio, TX. American Association for Cancer Research, 2011. http://dx.doi.org/10.1158/0008-5472.sabcs11-p2-07-02.

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Pande, Mala, Melissa Bondy, Kim-Anh Do, et al. "Abstract 3271: The association between germline genetic variants in the PI3K-AKT-mTOR pathway and breast cancer disease free survival." In Proceedings: AACR Annual Meeting 2014; April 5-9, 2014; San Diego, CA. American Association for Cancer Research, 2014. http://dx.doi.org/10.1158/1538-7445.am2014-3271.

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