Journal of Genetic Medicine and Gene Therapy最新文献

Germline BRCA1 Mutation inSquamous Cell Carcinoma of Oesophagus: Driver versus Passenger Mutation 食管鳞状细胞癌中的种系 BRCA1 基因突变：驱动基因突变与从属基因突变

Journal of Genetic Medicine and Gene Therapy Pub Date : 2024-07-02 DOI: 10.29328/journal.jgmgt.1001011

Kaler Amrit Kaur, Upadhyay Shraddha Manoj, Bora Nandini Shyamali, Nikam Ankita, P. Kavya, Athikeri Nivetha, Solanki Dattatray B, Shaikh Imran, Mistry Rajesh

{"title":"Germline BRCA1 Mutation inSquamous Cell Carcinoma of Oesophagus: Driver versus Passenger Mutation","authors":"Kaler Amrit Kaur, Upadhyay Shraddha Manoj, Bora Nandini Shyamali, Nikam Ankita, P. Kavya, Athikeri Nivetha, Solanki Dattatray B, Shaikh Imran, Mistry Rajesh","doi":"10.29328/journal.jgmgt.1001011","DOIUrl":"https://doi.org/10.29328/journal.jgmgt.1001011","url":null,"abstract":"We report a rare case of 62-year-old South Asian women who visited the Molecular Pathology and Genomics Department for hereditary germline cancer genetic testing after being diagnosed with oesophageal cancer, reported as invasive keratinizing squamous cell carcinoma metastasized to the lymph nodes. Her personal history revealed that she was diagnosed with triple-negative breast cancer five years before oesophageal cancer. Germline cancer testing showed pathogenic variants in BRCA1 gene c.68_69delAG, which proved it a hereditary breast and ovarian cancer syndrome. She was started on PARP inhibitors but developed some secondary respiratory failure and succumbed to death. Less than 10 cases have been reported in the literature of the association of germline BRCA1 and Squamous cell Carcinoma – the esophagus. The article focuses on the probable pathogenesis of BRCA1 mutation with non-classic malignancies and the response of Poly adenosine diphosphate ribose polymerase inhibitors (PARP) inhibitors in such a scenario. We report an unusual manifestation of the BRCA1 gene with second primary oesophageal squamous cell cancer occurring five years later to triple-negative breast cancer.","PeriodicalId":113278,"journal":{"name":"Journal of Genetic Medicine and Gene Therapy","volume":"5 22","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-07-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141684850","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

New insights of liquid biopsy in ovarian cancer 卵巢癌液体活检的新发现

Journal of Genetic Medicine and Gene Therapy Pub Date : 2022-09-29 DOI: 10.29328/journal.jgmgt.1001007

Antoniadis Panagiotis, Gheorghe Florentina Alina, Nitu Madalina Ana Maria, Nitu Cezara Gabriela, Constantinescu Diana Roxana, Duica Florentina

{"title":"New insights of liquid biopsy in ovarian cancer","authors":"Antoniadis Panagiotis, Gheorghe Florentina Alina, Nitu Madalina Ana Maria, Nitu Cezara Gabriela, Constantinescu Diana Roxana, Duica Florentina","doi":"10.29328/journal.jgmgt.1001007","DOIUrl":"https://doi.org/10.29328/journal.jgmgt.1001007","url":null,"abstract":"Through the development of new analysis technologies, many issues regarding the approach to tumoral diseases have been elucidated. With analytical assays developed in the last years, various omics technologies have evolved in such a manner that the characteristics of tumor cells and products can be evaluated (assessed) in the bloodstream of cancer patients at different times. Ovarian Cancer (OC) is one of the most difficult to diagnose umors, with low survival rates due to the high heterogeneity of these diseases that are distinct in terms of etiology and molecular characteristics, but which simply share an anatomical appearance. Recent findings have indicated that several types of ovarian cancer classified into different histotypes are in fact derived from non-ovarian issues and share few molecular similarities. Within this context, ovarian cancer screening and diagnosis can be made through the evaluation of circulating tumor cells in peripheral blood using liquid biopsy technologies. Advances in the study of various molecules analyzed by liquid biopsy have shown that elucidation of intratumoural and intertumoural heterogeneity and spatial and temporal tumor evolution could be traced by serial blood tests rather than by histopathological analyses of tissue samples from a primary tumor. Therefore, evaluation of some molecules such as circulating tumor cells (CTC), circulating tumor DNA (ctDNA), circulating cell-free RNA (non-coding and mRNA, extracellular vesicles), tumor-educated platelets or different miRNAs using liquid biopsy could lead to improvement of patient management.","PeriodicalId":113278,"journal":{"name":"Journal of Genetic Medicine and Gene Therapy","volume":"45 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2022-09-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"132048704","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Partial SHOX duplications associated with various cases of congenital uterovaginal aplasia (MRKH syndrome): A tangible evidence but a puzzling mechanism 部分SHOX重复与各种先天性子宫阴道发育不全(MRKH综合征)病例相关:一个切实的证据，但一个令人困惑的机制

Journal of Genetic Medicine and Gene Therapy Pub Date : 2021-03-25 DOI: 10.29328/JOURNAL.JGMGT.1001006

D. Guerrier, K. Morcel

{"title":"Partial SHOX duplications associated with various cases of congenital uterovaginal aplasia (MRKH syndrome): A tangible evidence but a puzzling mechanism","authors":"D. Guerrier, K. Morcel","doi":"10.29328/JOURNAL.JGMGT.1001006","DOIUrl":"https://doi.org/10.29328/JOURNAL.JGMGT.1001006","url":null,"abstract":"The Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is the most severe form of congenital malformation of the inner female reproductive tract. It is diagnosed as such when the uterus, the upper vagina and optionally the Fallopian tubes are absent. It accounts for approximately 1 in 5000 live-born females and has been classified in two subtypes: type 1 in the presence of isolated uterovaginal aplasia and type 2 when associated in various combinations with extragenital malformations of the kidneys, skeleton, heart and auditory system. Most cases of MRKH syndrome are sporadic, although a significant number of many familial cases have been reported to date. Despite numerous studies, the genetics of the syndrome remains largely unknown and appears to be heterogeneous: chromosomal abnormalities and some candidate gene variants appear to be associated with a few cases; others have been suggested but not yet confirmed. To date, mainly the GREB1L gene appears to be a serious candidate. Among the remaining hypotheses, the controversial contribution of partial duplications of the SHOX gene is still puzzling, as the deficiency of this gene is a major cause of skeletal adysplasia syndromes. We have attempted to resolve this controversy in a study of 60 MRKH cases. Our results tend to show that SHOX duplications can be the origin of a genetic mechanism responsible for MRKH syndrome.","PeriodicalId":113278,"journal":{"name":"Journal of Genetic Medicine and Gene Therapy","volume":"80 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2021-03-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"114316097","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Reasons why new coronavirus, SARS-CoV-2 infections are likely to spread 新型冠状病毒SARS-CoV-2感染可能传播的原因

Journal of Genetic Medicine and Gene Therapy Pub Date : 2020-04-28 DOI: 10.29328/journal.jgmgt.1001005

Takuma Hayashi, Takashi Ura, K. Abiko, M. Mandan, N. Yaegashi, I. Konishi

引用次数: 3

The role of genetic mutations in genes LMNA, PPARG, PLIN1, AKT2, CIDEC in Köbberling–Dunnigan Syndrome 基因LMNA、PPARG、PLIN1、AKT2、CIDEC基因突变在Köbberling-Dunnigan综合征中的作用

Journal of Genetic Medicine and Gene Therapy Pub Date : 2019-02-22 DOI: 10.29328/JOURNAL.JGMGT.1001004

S. Asadi, Mahsa Jamali

引用次数: 1