References
- Chen, S, Parmigiani, G. (2007). Meta-analysis of BRCA1 and BRCA2 penetrance. J. Clin. Oncol., 25 (11), 1329–1333.
- Cybulski, C., Gorski, B., Huzarski, T., Masojc, B., Mierzejewski, M., Debniak, T., Teodorczyk, U., Byrski, T., Gronwald, J., Matyjasik, J., et al. (2004). CHEK2 is a multiorgan cancer susceptibility gene. Amer. J. Hum. Genet., 75 (6), 1131–1135.
- Cybulski, C., Wokolorczyk, D., Huzarski, T., Byrski, T., Gronwald, J., Gorski, B., Debniak, T., Masojc, B., Jakubowska, A., Gliniewicz, B., et al. (2006). A large germline deletion in the Chek2 kinase gene is associated with an increased risk of prostate cancer. J. Med. Genet., 43 (11), 863–866.
- Cybulski, C., Wokolorczyk, D., Kladny, J., Kurzawski, G., Suchy, J., Grabowska, E., Gronwald, J., Huzarski, T., Byrski, T., Gorski, B., et al. (2007). Germline CHEK2 mutations and colorectal cancer risk: different effects of a missense and truncating mutations? Eur. J. Hum. Genet., 15 (2), 237–241.
- Cybulski, C., Gorski, B., Huzarski, T., Byrski, T., Gronwald, J., Debniak, T., Wokolorczyk, D., Jakubowska, A., Serrano-Fernandez, P., Dork, T et al. (2009). Effect of CHEK2 missense variant I157T on the risk of breast cancer in carriers of other CHEK2 or BRCA1 mutations. J. Med. Genet., 46 (2) 132–135.
- Gronwald, J., Cybulski, C., Piesiak, W., Suchy, J., Huzarski, T., Byrski, T., Gorski, B., Debniak, T., Szwiec, M., Wokolowczyk, D., et al. (2009). Cancer risks in first-degree relatives of CHEK2 mutation carriers: effects of mutation type and cancer site in proband. Brit. J. Cancer., 100 (9), 1508–1512.
- Irmejs, A., Miklasevics, E., Boroschenko, V., Gardovskis, A., Vanags, A., Melbarde-Gorkusa, I., Bitina, M., Suchy, J., Gardovskis, J. (2006). Pilot study on low penetrance breast and colorectal cancer predisposition markers in Latvia. Hered. Cancer Clin. Pract., 4 (1), 48–51.
- Jalilvand, M., Oloomi, M., Najafipour, R., Alizadeh, S. A., Saki, N., Rad, F. S., Shekari, M. (2017). An association study between CHEK2 gene mutations and susceptibility to breast cancer. Comp. Clin. Path., 26 (4), 837–845.
- Keupp, K., Hampp, S., Hübbel, A., Maringa, M., Kostezka, S., Rhiem, K., Waha, A., Wappenschmidt, B., Pujol, R., Surrallés, J., et al. (2019). Biallelic germline BRCA1 mutations in a patient with early onset breast cancer, mild Fanconi anemia-like phenotype, and no chromosome fragility. Mol. Genet. Genomic. Med., 7 (9), e863.
- Loza, P., Irmejs, A., Daneberga, Z., Miklasevics, E., Berga-Svitina, E., Subatniece, S., Maksimenko, J., Trofimovics, G., Tauvena, E., Ukleikins, S., Gardovskis, J. (2021). A novel frequent BRCA1 recurrent variant c.5117G A (p.Gly1206Glu) identified after 20?years of BRCA1/2 research in the Baltic region: Cohort study and literature review. Hered. Cancer Clin. Pract., 19 (1), 11.
- Meijers-Heijboer, H., van den Ouweland, A., Klijn, J., Wasielewski, M., de Snoo, A., Oldenburg, R., Hollestelle, A., Houben, M., Crepin, E., van Veghel-Plandsoen, M., et al. (2002). Low-penetrance susceptibility to breast cancer due to CHEK2*1100delC in noncarriers of BRCA1 or BRCA2 mutations. Nat. Genet., 31 (1), 55–59.
- Pavlovica, K., Irmejs, A., Noukas, M., Palover, M., Kals, M., Tonisson, N., Metspalu, A., Gronwald, J., Lubinski, J., Murmane, D., et al. (2022) Spectrum and frequency of CHEK2 variants in breast cancer affected and general population in the Baltic states region, initial results and literature review. Eur. J. Med. Genet,. 65 (5), 104477.
- Plakhins, G., Irmejs, A., Gardovskis, A., Subatniece, S., Rozite, S., Bitina, M., Keire, G., Purkalne, G., Teibe, U., Trofimovics, G., Miklasevics, E., Gardovskis, J. (2011). Genotype-phenotype correlations among BRCA1 4153delA and 5382insC mutation carriers from Latvia. BMC Med Genet., 12, 147.
- Plonis, J., Kalniete, D., Nakazawa-Miklasevica, M., Irmejs, A., Vjaters, E., Gardovskis, J., Miklasevics, E. (2015). The CHEK2 del5395 is a founder mutation without direct effects for cancer risk in the Latvian population. Balkan J. Med. Genet., 18 (2), 33–36.
- Sokolenko, A. P., Bogdanova, N., Kluzniak, W., Preobrazhenskaya, E. V., Kuligina, E. S., Iyevleva, A. G., Aleksakhina, S. N., Mitiushkina, N. V., Gorodnova, T. V., Bessonov, A. A., et al. (2014). Double heterozygotes among breast cancer patients analyzed for BRCA1, CHEK2, ATM, NBN/NBS1, and BLM germ-line mutations. Breast Cancer Res. Treat., 145 (2), 553–562.
- SPKC. Statistikas Dati. Slimību profilakses un kontroles centrs. https://www.spkc.gov.lv/lv/statistikas-dati (accessed 04.07.2022).
- Sukumar, J., Kassem, M., Agnese, D., Pilarski, R., Ramaswamy, B., Sweet, K., Sardesai, S. (2021). Concurrent germline BRCA1, BRCA2, and CHEK2 pathogenic variants in hereditary breast cancer: A case series. Breast Cancer Res. Treat., 186 (2), 569–575.
- Sung, H., Ferlay, J., Siegel, R. L., Laversanne, M., Soerjomataram, I., Jemal, A., Bray, F. (2021). Global Cancer Statistics 2020: GLOBOCAN Estimates of incidence and mortality worldwide for 36 cancers in 185 countries. CA Cancer J. Clin., 71 (3), 209–249.
- Therneau, T. (2020). A Package for Survival Analysis in R. R package version 3.2-3., https://CRAN.R-project.org/package=survival.
- Turnbull, C., Seal, S., Renwick, A., Warren-Perry, M., Hughes, D., Elliott, A., Pernet, D., Peock, S., Adlard, J. W., Barwell, J., et al. (2012). Gene-gene interactions in breast cancer susceptibility. Hum. Mol. Genet., 21 (4), 958–962.
- Walker, L. C., Marquart, L., Pearson, J. F., Wiggins, G. A., O'Mara, T. A., Parsons, M. T., Barrowdale, D., McGuffog, L., Dennis, J., Benitez, J., et al. (2017). Evaluation of copy-number variants as modifiers of breast and ovarian cancer risk for BRCA1 pathogenic variant carriers. Eur. J. Hum. Genet., 25 (4), 432–438.
- Walsh, T., Casadei, S., Coats, K. H., Swisher, E., Stray, S. M., Higgins, J., Roach, K. C., Mandell, J., Lee, M. K., Ciernikova, S., et al. (2006). Spectrum of mutations in BRCA1, BRCA2, CHEK2, and TP53 in families at high risk of breast cancer. JAMA, 295 (12), 1379–1388.