oesophageal cancer

Germline BRCA1 Mutation inSquamous Cell Carcinoma of Oesophagus: Driver versus Passenger Mutation

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

Published on: 2nd July, 2024

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.
Cite this ArticleCrossMarkPublonsHarvard Library HOLLISGrowKudosResearchGateBase SearchOAI PMHAcademic MicrosoftScilitSemantic ScholarUniversite de ParisUW LibrariesSJSU King LibrarySJSU King LibraryNUS LibraryMcGillDET KGL BIBLiOTEKJCU DiscoveryUniversidad De LimaWorldCatVU on WorldCat
AbstractDOI: 10.29328/journal.jgmgt.1001011Read Full Article HTMLRead Full Article PDF

Search by University/Institution

Enter your University/Institution to find colleagues at HSPI.

Ensuring author's satisfaction with

  • Friendly and hassle-free publication process
  • Less production time of articles
  • Constructive peer-review
  • Enhancing journal reputation
  • Regular feedback system
  • Quick response to authors' queries

Read More

Most Viewed Keywords

All Issues in 2025

Search Articles by Country

Get all latest articles in all Heighten Science Publications Inc journals by country.

Testmonials

We really appreciate and thanks the full waiver you provide for our article. We happy to publish our paper in your journal. Thank you very much for your good support and services.

Ali Abusafia

Journal of Pulmonary and Respiratory Research is good journal for respiratory research purposes. It takes 2-3 weeks maximum for review of the manuscript to get published and any corrections to be made...

Divya Khanduja

“The choice to submit the forensic case study to the Journal of Addiction Therapy and Research was dictated by the match between the content and the potential readership. The publication process pro...

Ph.D, Boston University Department of Communicatio...

Elisabeth H. Wiig

I very much appreciate the humanitarian services provided in my stead by this journal/publisher. It exhibits total absence of editorial impertinence. As an Author, I have been guided to have a fruitf...

Chrysanthus Chukwuma

We appreciate the fact that you decided to give us full waiver for the applicable charges and approve the final version. You did an excellent job preparing the PDF version. Of course we will consider ...

Anna Dionysopoulou

The service from the journal staff has been excellent.

Andy Smith

I am to express my view that Heighten Science Publications are reliable quick even after peer review process. I hope and wish the publications will go a long way in disseminating science to many inter...

College of Fisheries, CAU(I), Tripura, India

Ajit Kumar Roy

I like the quality of the print & overall service. The paper looks quite impressive. Hope this will attract interested readers. All of you have our best wishes for continued success.

Arshad Khan

I, Muhammad Sarwar Khan, am serving as Editor on Archives of Biotechnology and Biomedicine (ABB). I submitted an editorial titled, 'Edible vaccines to combat Infectious Bursal Disease of poultry' for ...

University of Agriculture, Pakistan

Muhammad Sarwar Khan

The Clinical Journal of Obstetrics and Gynecology is an open access journal focused on scientific knowledge publication with emphasis laid on the fields of Gynecology and Obstetrics. Their services to...

Carole Assontsa

View More

Browse by Subjects

Biology Group Journals

Chemistry Group Journals

Clinical Group Journals

Engineering Group Journals

Medical Group Journals

Pharma Group Journals

Help ?

HSPI: We're glad you're here. Please click "create a new Query" if you are a new visitor to our website and need further information from us.

If you are already a member of our network and need to keep track of any developments regarding a question you have already submitted, click "take me to my Query."