Identification of c.1531C>T Pathogenic Variant in the CDH1 Gene as a Novel Germline Mutation of Hereditary Diffuse Gastric Cancer
Abstract
:1. Introduction
2. Results
3. Discussion
4. Materials and Methods
4.1. DNA Extraction
4.2. Sequence Analysis
4.3. Statistical Analyses
5. Conclusions
Supplementary Materials
Author Contributions
Funding
Acknowledgments
Conflicts of Interest
References
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Characteristics | N (%) |
---|---|
Total | 36 |
Gender | |
Male | 18 (50) |
Female | 18 (50) |
Age (years) | 44 (range: 22–68) |
≤ 29 | 7 (19) |
30–39 | 7 (19) |
40–49 | 12 (33) |
50–59 | 4 (11) |
60 or older | 6 (16) |
Smoking status | |
Current smoker | 16 (44) |
Previously smoker | 3 (8) |
Non smoker | 17 (47) |
Stage | |
I | 5 (14) |
II | 6 (17) |
III | 12 (33) |
IV | 13 (36) |
Family history of gastric cancer * | |
1 family member (only proband) | 17 (47) |
2 family members | 6 (17) |
3 family members | 9 (25) |
4 or more family members | 4 (11) |
Family history of breast cancer | 6 (16) |
Family history of colorectal cancer | 2 (6) |
Family history of prostate cancer | 3 (8) |
Family history of uterine cancer | 2 (6) |
Family history of skin cancer | 1 (3) |
Family history of esophageal cancer | 1 (3) |
Family history of gallbladder cancer | 1 (3) |
Family history of lung cancer | 1 (3) |
Family history of thyroid cancer | 1 (3) |
Family history of ovarian cancer | 1 (3) |
Family history of other cancer unknown | 6 (16) |
Helicobacter pylori infection | |
Infected | 15 (42) |
Not infected | 10 (28) |
Unknown | 11 (30) |
SNP ID | Sequence Variant | Protein Change | Probands (n) | Location | Class | Significance α |
---|---|---|---|---|---|---|
rs16260 | c.-285C>A | 19 | Promoter | Promoter | Non-coding | |
rs28372783 | c.-197A>C | 11 | Promoter | Promoter | Non-coding | |
rs3743674 | c.48+6C>T | 36 | Intron 1 | Splice site | Benign | |
rs139866691 | c.88C>A | p.Pro30Thr | 1 | Exon 2 | Missense | Benign |
rs33963999 | c.531+10G>C | 1 | Intron 4 | Splice site | Benign | |
rs61756284 | c.1272A>T | p.Thr424Thr | 1 | Exon 9 | Synonymous | Benign |
rs1131690810 | c.1531C>T | p.Gln511 * | 1 | Exon 10 | Nonsense | Pathogenic |
rs786201452 | c.1893A>T | p.Thr631Thr | 1 | Exon 12 | Synonymous | Likely benign |
rs764379691 | c.2052C>T | p.Ser684Ser | 1 | Exon 13 | Synonymous | Likely benign |
rs1801552 | c.2076T>C | p.Ala692Ala | 30 | Exon 13 | Synonymous | Benign |
rs33964119 | c.2253C>T | p.Asn751Asn | 4 | Exon 14 | Synonymous | Benign |
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Norero, E.; Alarcon, M.A.; Hakkaart, C.; de Mayo, T.; Mellado, C.; Garrido, M.; Aguayo, G.; Lagos, M.; Torres, J.; Calvo, A.; et al. Identification of c.1531C>T Pathogenic Variant in the CDH1 Gene as a Novel Germline Mutation of Hereditary Diffuse Gastric Cancer. Int. J. Mol. Sci. 2019, 20, 4980. https://doi.org/10.3390/ijms20204980
Norero E, Alarcon MA, Hakkaart C, de Mayo T, Mellado C, Garrido M, Aguayo G, Lagos M, Torres J, Calvo A, et al. Identification of c.1531C>T Pathogenic Variant in the CDH1 Gene as a Novel Germline Mutation of Hereditary Diffuse Gastric Cancer. International Journal of Molecular Sciences. 2019; 20(20):4980. https://doi.org/10.3390/ijms20204980
Chicago/Turabian StyleNorero, Enrique, M. Alejandra Alarcon, Christopher Hakkaart, Tomas de Mayo, Cecilia Mellado, Marcelo Garrido, Gloria Aguayo, Marcela Lagos, Javiera Torres, Alfonso Calvo, and et al. 2019. "Identification of c.1531C>T Pathogenic Variant in the CDH1 Gene as a Novel Germline Mutation of Hereditary Diffuse Gastric Cancer" International Journal of Molecular Sciences 20, no. 20: 4980. https://doi.org/10.3390/ijms20204980