Comparing Cancer Risk Management between Females with Truncating CHEK2 1100delC versus Missense CHEK2 I157T Variants
Abstract
1. Introduction
2. Materials and Methods
3. Results
4. Discussion
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Data Availability Statement
Conflicts of Interest
References
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Overall N = 150 | ||
---|---|---|
n | % | |
Non-Hispanic White | 143 | 95.3% |
Married or Cohabitating | 117 | 78.0% |
College Graduate | 92 | 61.3% |
Private Insurance | 110 | 73.3% |
Employed Full Time | 89 | 59.3% |
Annual Income > USD 50,000 | 100 | 66.7% |
CHEK2 c.1100delC (p.Thr367fs) N = 104 | CHEK2 c.470T>C (p.Ile157T) N = 46 | p-Value | |||
---|---|---|---|---|---|
n | % | n | % | ||
Mean Age of Breast Cancer Diagnosis | 49 | 55 | 0.093 | ||
Mean Age at Genetic Testing | 51 | 49 | 0.557 | ||
Personal History of Breast Cancer | 46 | 44.2% | 15 | 32.6% | 0.181 |
Family History of Breast Cancer | 70 | 67.3% | 31 | 67.4% | 0.992 |
Personal History of Other Cancer | 27 | 26.0% | 7 | 15.2% | 0.147 |
HR+ (i.e., ER+ and/or PR+) Receptor Status 1 | 38 | 82.6% | 12 | 80.0% | 0.819 |
Stage 1 | - | ||||
Stage 0 | 8 | 17.4% | 1 | 6.7% | |
Stage 1 | 12 | 26.1% | 5 | 33.3% | |
Stage 2 | 14 | 30.4% | 6 | 40.0% | |
Stage 3 | 1 | 2.2% | 2 | 13.3% | |
Stage 4 | 3 | 6.5% | - | - | |
Unknown | 8 | 17.4% | 1 | 6.7% | |
Contralateral Prophylactic Mastectomy 1 | 23 | 50.0% | 6 | 38.9% | 0.501 |
Bilateral Prophylactic Mastectomy 2 | 8 | 13.8% | 2 | 6.5% | 0.296 |
Breast MRI with Breast Cancer 3 | 15 | 65.2% | 5 | 55.6% | 0.612 |
Breast MRI without Breast Cancer 4 | 22 | 44.0% | 13 | 44.8% | 0.943 |
Bilateral Salpingo-oophorectomy 5 | 11 | 24.4% | 4 | 22.2% | 0.852 |
Prophylactic Bilateral Salpingo-oophorectomy 6 | 10 | 17.5% | 5 | 16.7% | 0.918 |
Predictor Variables | Estimate | SE | tStat | P | |
---|---|---|---|---|---|
Breast Cancer | GPV (1100delC or I157T) 1 | 0.51 | 0.37 | 1.35 | 0.18 |
Family History of Breast Cancer 2 | −0.29 | 0.37 | −0.79 | 0.43 | |
Breast MRI | GPV (1100delC or I157T) 1 | 0.03 | 0.37 | 0.09 | 0.93 |
Personal History of Breast Cancer 2 | 0.86 | 0.35 | 2.46 | 0.01 | |
Family History of Breast Cancer 2 | 0.33 | 0.37 | 0.89 | 0.38 | |
Bilateral Mastectomy | GPV (1100delC or I157T) 1 | 1.93 | 0.48 | 1.20 | 0.23 |
Personal History of Breast Cancer 2 | 0.58 | 0.43 | 4.54 | 5.71 × 10−6 | |
Family History of Breast Cancer 2 | 0.03 | 0.45 | 0.07 | 0.94 | |
Bilateral Salpingo-oophorectomy | GPV (1100delC or I157T) 1 | 0.03 | 0.45 | 0.06 | 0.95 |
Personal History of Breast Cancer 2 | 0.66 | 0.41 | 1.62 | 0.11 | |
Family History of Breast Cancer 2 | −0.18 | 0.43 | −0.41 | 0.68 |
Predictor | Estimate | SE | tStat | P | |
---|---|---|---|---|---|
Bilateral Prophylactic Mastectomy | GPV (1100delC or I157T) 1 | 0.82 | 0.83 | 0.99 | 0.32 |
Family History of Breast Cancer 2 | 0.54 | 0.84 | 0.65 | 0.52 | |
Bilateral Prophylactic Salpingo-Oophorectomy | GPV (1100delC or I157T) 1 | −0.02 | 0.61 | −0.03 | 0.97 |
Family History of Breast Cancer 2 | −0.68 | 0.59 | −1.14 | 0.26 |
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Garmendia, D.; Weidner, A.; Venton, L.; Pal, T. Comparing Cancer Risk Management between Females with Truncating CHEK2 1100delC versus Missense CHEK2 I157T Variants. Genes 2024, 15, 881. https://doi.org/10.3390/genes15070881
Garmendia D, Weidner A, Venton L, Pal T. Comparing Cancer Risk Management between Females with Truncating CHEK2 1100delC versus Missense CHEK2 I157T Variants. Genes. 2024; 15(7):881. https://doi.org/10.3390/genes15070881
Chicago/Turabian StyleGarmendia, Diego, Anne Weidner, Lindsay Venton, and Tuya Pal. 2024. "Comparing Cancer Risk Management between Females with Truncating CHEK2 1100delC versus Missense CHEK2 I157T Variants" Genes 15, no. 7: 881. https://doi.org/10.3390/genes15070881
APA StyleGarmendia, D., Weidner, A., Venton, L., & Pal, T. (2024). Comparing Cancer Risk Management between Females with Truncating CHEK2 1100delC versus Missense CHEK2 I157T Variants. Genes, 15(7), 881. https://doi.org/10.3390/genes15070881