Combinations of Low-Frequency Genetic Variants Might Predispose to Familial Pancreatic Cancer
Abstract
:1. Introduction
2. Materials and Methods
2.1. Recruitment of Cases and High Risk Individuals
2.2. DNA Extraction
2.3. Next Generation Sequencing of PDAC Cases, High Risk Individuals and Non-PDAC Cases
2.4. Immunohistochemical Staining
3. Results
4. Discussion
5. Conclusions
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Data Availability Statement
Acknowledgments
Conflicts of Interest
References
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Gene | Family ID | Family Type | Variant | Mutation Type | Biological Significance (Pathogenic, VUS *) | Segregation with Disease | Families with the Variant | MAF | Somatic Gene Variant Described in PDAC Tumor Tissue |
---|---|---|---|---|---|---|---|---|---|
ATM | 02-5-0382 | FPC | c.5385G > T | missense | deleterious | yes | 1/36 | n.a. | no |
p.(W1795C) | |||||||||
SUFU | 25-5-67 | FPC-breast | Position | promoter variant | pathogenic | yes | 1/15 | 0.000024 1 | no |
−8C > T | |||||||||
DAB1 # | 25-9-44 | PCMS | c.786 + 1G > A | splice | pathogenic | yes | 1/49 | 0.00001 1 | yes [7] |
site | |||||||||
POLQ # | 25-9-44 | PCMS | c.4141C > A p.(P1381T) | missense | VUS | yes | 1/29 | 0.015/ | no |
0.025 2 | |||||||||
FGFBP3 # | 25-9-44 | PCMS | c.724G > A p.(A242T) | missense | deleterious | yes | 1/29 | 0.000004 1 | no |
MAP3K3 § | 25-4-46 | FPC | c.1511T > C p.(I504T) | missense | deleterious | yes | 1/29 | 0.00001 1 | no |
ACAD9 § | 25-4-46; 25-1-91; 25-9-113; 25-2-209 | FPC FPC FPC FPC | c.976G > A p.(A326T) | missense | VUS | yes | 4/46 | 0.0152/ 0.0219 2 | no |
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Slater, E.P.; Wilke, L.M.; Böhm, L.B.; Strauch, K.; Lutz, M.; Gercke, N.; Matthäi, E.; Hemminki, K.; Försti, A.; Schlesner, M.; et al. Combinations of Low-Frequency Genetic Variants Might Predispose to Familial Pancreatic Cancer. J. Pers. Med. 2021, 11, 631. https://doi.org/10.3390/jpm11070631
Slater EP, Wilke LM, Böhm LB, Strauch K, Lutz M, Gercke N, Matthäi E, Hemminki K, Försti A, Schlesner M, et al. Combinations of Low-Frequency Genetic Variants Might Predispose to Familial Pancreatic Cancer. Journal of Personalized Medicine. 2021; 11(7):631. https://doi.org/10.3390/jpm11070631
Chicago/Turabian StyleSlater, Emily P., Lisa M. Wilke, Lutz Benedikt Böhm, Konstantin Strauch, Manuel Lutz, Norman Gercke, Elvira Matthäi, Kari Hemminki, Asta Försti, Matthias Schlesner, and et al. 2021. "Combinations of Low-Frequency Genetic Variants Might Predispose to Familial Pancreatic Cancer" Journal of Personalized Medicine 11, no. 7: 631. https://doi.org/10.3390/jpm11070631