Prevalence of Germline Pathogenic Variants in Renal Cancer Predisposition Genes in a Population-Based Study of Renal Cell Carcinoma
Abstract
:Simple Summary
Abstract
1. Introduction
2. Materials and Methods
2.1. Study Participants
2.2. Data and Biological Sample Collection
2.3. Mutation Screening
2.4. Variant Prioritisation and Classification
2.5. Statistical Analyses
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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PLP Variant Carriers | Non-Carriers | All Tested Individuals (100%) | |
---|---|---|---|
Participants: N (%) | 18 (1.7%) | 1011 (98.3%) | 1029 |
Sex: N (%) | |||
Male | 11 (2%) | 679 (98%) | 690 |
Female | 7 (2%) | 332 (98%) | 339 |
Age at diagnosis: mean ± SD | 58 ± 10 | 60 ± 10 | 60 ± 10 |
Histology: N (%) | |||
Clear cell | 7 (1%) | 606 (99%) | 613 |
Chromophobe | 4 (4%) | 96 (96%) | 100 |
Papillary | 3 (3%) | 107 (97%) | 110 |
Not otherwise specified | 4 (2%) | 186 (98%) | 190 |
Other | 0 | 15 (100%) | 15 |
Unknown | 0 | 1 (100%) | 1 |
Family history: N (%) | p-value | ||
First-degree relative with RCC | p = 0.59 | ||
Yes | 1 (2%) | 54 (98%) | |
No | 11 (2%) | 703 (98%) | |
Missing | 6 (2%) | 254 (98%) | |
Second-degree relative with RCC | p = 0.44 | ||
Yes | 1 (3%) | 34 (97%) | |
No | 11 (2%) | 706 (98%) | |
Missing | 6 (2%) | 271 (98%) |
Carrier | Gene | HGVS c. b | HGVS p. b | Sex | Age of Diagnosis (Years) | Affected First-Degree Relative | Affected Second-Degree Relative | Histology |
---|---|---|---|---|---|---|---|---|
1 | BAP1 | NM_004656.4:c.783+2T>C | Female | 54 | Unknown | Unknown | clear cell | |
2 | FH | NM_000143.4:c.698G>A | p.Arg233His | Male | 54 | No | No | NOS |
3 | FH | NM_000143.4:c.575C>T | p.Pro192Leu | Male | 56 | Unknown | Unknown | clear cell |
4 a | FLCN | NM_144997.7:c.1432+1G>A | Male | 66 | Yes | Unknown | papillary | |
5 a | FLCN | NM_144997.7:c.1432+1G>A | Male | 47 | Unknown | Unknown | chromophobe | |
6 | FLCN | NM_144997.7:c.1318_1334dup | p.Leu449Glnfs*25 | Female | 62 | No | No | NOS |
7 | FLCN | NM_144997.7:c.469_471delTTC | p.Phe157del | Female | 62 | No | Yes | chromophobe |
8 | MITF | NM_000248.4:c.952G>A | p.Glu318Lys | Male | 63 | Unknown | No | papillary |
9 | MITF | NM_000248.4:c.952G>A | p.Glu318Lys | Male | 74 | No | No | clear cell |
10 | MITF | NM_000248.4:c.952G>A | p.Glu318Lys | Male | 60 | Unknown | No | clear cell |
11 | MITF | NM_000248.4:c.952G>A | p.Glu318Lys | Male | 72 | No | No | clear cell |
12 | MITF | NM_000248.4:c.952G>A | p.Glu318Lys | Female | 73 | No | Unknown | NOS |
13 | MSH6 | NM_000179.3:c.3469G>A | p.Gly1157Ser | Male | 56 | Unknown | No | chromophobe |
14 | MSH6 | NM_000179.3:c.2057G>A | p.Gly686Asp | Female | 45 | No | No | papillary |
15 | SDHB | NM_003000.3:c.505C>T | p.Gln169Ter | Male | 47 | No | Unknown | NOS |
16 | TSC1 | NM_000368.5:c.589delT | p.Cys197Alafs*13 | Female | 58 | No | No | chromophobe |
17 | VHL | NM_000551.4:c.548C>A | p.Ser183Ter | Female | 67 | No | No | clear cell |
18 | VHL | NM_000551.4:c.556G>T | p.Glu186Ter | Male | 35 | No | No | clear cell |
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Bruinsma, F.; Harraka, P.; Jordan, S.; Park, D.J.; Pope, B.; Steen, J.; Milne, R.L.; Giles, G.G.; Winship, I.; Tucker, K.M.; et al. Prevalence of Germline Pathogenic Variants in Renal Cancer Predisposition Genes in a Population-Based Study of Renal Cell Carcinoma. Cancers 2024, 16, 2985. https://doi.org/10.3390/cancers16172985
Bruinsma F, Harraka P, Jordan S, Park DJ, Pope B, Steen J, Milne RL, Giles GG, Winship I, Tucker KM, et al. Prevalence of Germline Pathogenic Variants in Renal Cancer Predisposition Genes in a Population-Based Study of Renal Cell Carcinoma. Cancers. 2024; 16(17):2985. https://doi.org/10.3390/cancers16172985
Chicago/Turabian StyleBruinsma, Fiona, Philip Harraka, Susan Jordan, Daniel J. Park, Bernard Pope, Jason Steen, Roger L. Milne, Graham G. Giles, Ingrid Winship, Katherine M. Tucker, and et al. 2024. "Prevalence of Germline Pathogenic Variants in Renal Cancer Predisposition Genes in a Population-Based Study of Renal Cell Carcinoma" Cancers 16, no. 17: 2985. https://doi.org/10.3390/cancers16172985