Germline BRCA1 Mutation inSquamous Cell Carcinoma of Oesophagus: Driver versus Passenger Mutation
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.
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
Most Viewed Keywords
- Non-small-cell lung cancer
- Juveniles
- SARS-CoV-2
- Fibrous dysplasia
- Air pollution
- Age-related macular degeneration
- Medico legal death investigation system
- Aging
- Cystoisospora belli
- Urology
- Kalanchoe pinnata
- Drug addiction
- COVID-19
- P wave dispersion
- Food
- Myocarditis
- Addictive behaviors and dependencies
- Wheat
- Oral sex
- Depression
Search Articles by Country
Get all latest articles in all Heighten Science Publications Inc journals by country.
Testmonials
Your service is excellent. Processing and editing were very fast. I hope to publish more of my works in your journal.
Ausraful Islam
I wanna to thank clinical journal of nursing care and practice for its effort to review and publish my manuscript. This is reputable journal. Thank you!
Wollo University, Ethiopia
Atsedemariam Andualem
I do appreciate for your service including submission, analysis, review, editorial and publishing process. I believe these esteemed journal enlighten the science with its high-quality personel.
Bora Uysal
Great, thank you! It was very efficient working w/ your group. Very thorough reviews (i.e., plagiarism, peer, etc.). Would certainly recommend that future authors consider working w/ your group.
David W Brett
Your services are very good
Chukwuka Ireju Onyinye
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
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
Publishing with the International Journal of Clinical and Experimental Ophthalmology was a rewarding experience as review process was thorough and brisk. Their visibility online is second to none as...
Elizabeth Awoyesuku
I am delighted and satisfied with. Heighten Science Publications as my manuscript was thoroughly assessed and published on time without delay. Keep up the good work.
Ido-Ekiti/Afe Babalola University, Nigeria
Dr. Shuaib Kayode Aremu
It was a real pleasure working with your team. The review was done fast, and it was very clear, the editing was flawless, the article was published quickly compared to other journals, and everyone w...
Alexandra Cozma
