Uncovering Pathogenic Variants in Cancer Susceptibility Genes through Genetic Testing for Pancreatic Cancer Patients

How to cite: Potska, K.; Katseli, A.; Agiannitopoulos, K.; Ntogka, C.; Tsaousis, G.N.; Tsoulos, N.; Croitoru, A.E.; Ziogas, D.; Theochari, M.; Christodoulou, C.; Samantas, E.; Janninis, D.; Athanasiadis, I.; Koutras, A.; Papadopoulou, E.; Kirca, O.; Cakir, M.O.; Ashrafi, G.H.; Nasioulas, G.; Ozdogan, M. Uncovering Pathogenic Variants in Cancer Susceptibility Genes through Genetic Testing for Pancreatic Cancer Patients. Preprints 2024, 2024031473. https://doi.org/10.20944/preprints202403.1473.v1 Potska, K.; Katseli, A.; Agiannitopoulos, K.; Ntogka, C.; Tsaousis, G.N.; Tsoulos, N.; Croitoru, A.E.; Ziogas, D.; Theochari, M.; Christodoulou, C.; Samantas, E.; Janninis, D.; Athanasiadis, I.; Koutras, A.; Papadopoulou, E.; Kirca, O.; Cakir, M.O.; Ashrafi, G.H.; Nasioulas, G.; Ozdogan, M. Uncovering Pathogenic Variants in Cancer Susceptibility Genes through Genetic Testing for Pancreatic Cancer Patients. Preprints 2024, 2024031473. https://doi.org/10.20944/preprints202403.1473.v1

Cite

Export citation file: Bib TeX | RIS

MDPI and ACS Style

Potska, K.; Katseli, A.; Agiannitopoulos, K.; Ntogka, C.; Tsaousis, G.N.; Tsoulos, N.; Croitoru, A.E.; Ziogas, D.; Theochari, M.; Christodoulou, C.; Samantas, E.; Janninis, D.; Athanasiadis, I.; Koutras, A.; Papadopoulou, E.; Kirca, O.; Cakir, M.O.; Ashrafi, G.H.; Nasioulas, G.; Ozdogan, M. Uncovering Pathogenic Variants in Cancer Susceptibility Genes through Genetic Testing for Pancreatic Cancer Patients. Preprints 2024, 2024031473. https://doi.org/10.20944/preprints202403.1473.v1

APA Style

Potska, K., Katseli, A., Agiannitopoulos, K., Ntogka, C., Tsaousis, G.N., Tsoulos, N., Croitoru, A.E., Ziogas, D., Theochari, M., Christodoulou, C., Samantas, E., Janninis, D., Athanasiadis, I., Koutras, A., Papadopoulou, E., Kirca, O., Cakir, M.O., Ashrafi, G.H., Nasioulas, G., & Ozdogan, M. (2024). Uncovering Pathogenic Variants in Cancer Susceptibility Genes through Genetic Testing for Pancreatic Cancer Patients. Preprints. https://doi.org/10.20944/preprints202403.1473.v1

Chicago/Turabian Style

Potska, K., George Nasioulas and Mustafa Ozdogan. 2024 "Uncovering Pathogenic Variants in Cancer Susceptibility Genes through Genetic Testing for Pancreatic Cancer Patients" Preprints. https://doi.org/10.20944/preprints202403.1473.v1

Abstract

Pancreatic cancer stands out as one of the most lethal forms of malignancies, representing 2% of all cancer cases and contributing to 5% of cancer-related fatalities. Therefore, early detection of pancreatic cancer is crucial for enhancing treatment outcomes. Various hereditary cancer syndromes have been linked to an elevated risk of developing pancreatic cancer, suggesting potential benefits from surveillance strategies for individuals at risk. Presently, precision medicine employs PARP inhibitor therapy for pancreatic cancer patients carrying germline variants in Homologous Recombination Repair (HRR) genes. Our objective was to ascertain the occurrence of germline pathogenic/likely pathogenic variants in genes predisposing to cancer among pancreatic cancer patients. Methodologically, we analyzed 184 pancreatic cancer patients referred to our laboratory for genetic examination. Utilizing a Next-Generation Sequencing (NGS) approach, we scrutinized 52 genes implicated in hereditary cancer predisposition. Our findings revealed that 21% of the patients analyzed harbored germline pathogenic/likely pathogenic variants. Within this subset, 48% exhibited positive results in pancreatic cancer susceptibility genes, namely ATM (17%), BRCA1 (12%), BRCA2 (7%), CDKN2A (7%), and PALB2. Significantly, 64.3% of the pathogenic variants were associated with genes involved in the HRR pathway (ATM, BRCA1, BRCA2, BRIP1, CHEK2, FANCL, MRE11, PALB2, RAD50, RAD51B and RAD51C). In conclusion, our study underscores the significance of multigene genetic testing for pancreatic cancer patients, with 21% of individuals yielding findings linked to pancreatic or other cancer predisposition. Moreover, patients carried pathogenic/likely pathogenic variants in HRR genes, potentially benefiting from targeted therapies such as PARP inhibitors or platinum-based treatments.

Keywords

Hereditary; Pancreatic cancer; Next Generation Sequencing (NGS)

Subject

Medicine and Pharmacology, Oncology and Oncogenics

Copyright: This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Download PDF

Comments (0)

Not displayed online.

Importance: How significant is the paper to the field?

Outstanding/highlight paper

Significant contribution

Incremental contribution

No contribution

I am not qualified to judge

Soundness of evidence/arguments presented:

Conclusions well supported

Most conclusions supported (minor revision needed)

Incomplete evidence (major revision needed)

Hypothesis, unsupported conclusions, or proof-of-principle

I am not qualified to judge

Please leave your comment to this article below.

Mathematical equations can be typed in either LaTeX formats \\[ ... \\] or $$ ... $$, or MathML format <math> ... </math>. Try the LaTeX or MathML example.

Type equation:

Preview:

Copy equation into message below

Close menu

Please click a symbol to insert it into the message box below:

Please enter the link here:

Please enter a valid URL

Optionally, you can enter text that should appear as linked text:

Copy link into message below

Close menu

Please enter or paste the URL to the image here (please only use links to jpg/jpeg, png and gif images):

Please enter a valid URL

Copy image into message below

Close menu

Type author name or keywords to filter the list of references in this group (you can add a new citation under Bibliography):

No existing citations in Discussion Group

Wikify editor is a simple editor for wiki-style mark-up. It was written by MDPI for Sciforum in 2014. The rendering of the mark-up is based on Wiky.php with some tweaks. Rendering of mathematical equations is done with MathJax. Please send us a message for support or for reporting bugs.

Close menu

Please declare any conflicts of interest you may have with this paper, financial or otherwise.

I do not have a conflict of interest

I would like to declare a conflict of interest

Display my name on the website Send my name and email address to the authors

Captcha

Renew

I accept the following conditions:

Comments must follow the standards of professional discourse and should focus on the scientific content of the article. Insulting or offensive language, personal attacks and off-topic remarks will not be permitted. Comments must be written in English. Preprints reserves the right to remove comments without notice. Readers who post comments are obliged to declare any competing interests, financial or otherwise.

We encourage comments and feedback from a broad range of readers. See criteria for comments and our Diversity statement.

Leave a public comment
Send a private comment to the author(s)

* All users must log in before leaving a comment

what’s this?

Add a record of this review to Publons to track and showcase your reviewing expertise across the world’s journals.

Downloads 0

Comments 0

Metrics 0

Get PDF Cite Share 0

Bookmark BibSonomy Mendeley Reddit Delicious

Alerts

Notify me about updates to this article or when a peer-reviewed version is published.

Preprints.org is a free preprint server subsidized by MDPI in Basel, Switzerland.

MDPI Initiatives

SciProfiles
Sciforum
Encyclopedia
MDPI Books
Scilit
Proceedings
JAMS

Important links

How it Works
Advisory Board
FAQ
Friendly Journals
Instructions for Authors
About
Statistics

Choose the area that interest you and we will send you notifications of new preprints at your preferred frequency.

Disclaimer

We use cookies on our website to ensure you get the best experience.
Read more about our cookies here.

RSS feed for

Preprints: The Multidisciplinary Preprint Platform

Paste the URL in your RSS reader:

https://www.preprints.org/rss

If you want to subscribe our website in subject-wide, you could find the URL by choosing in the following:

https://www.preprints.org/rss

Please note that by using ScienceDirect RSS feeds, you agree to our Terms of Use and Privacy Policy.