Araştırma Makalesi
Yıl 2019,
, 569 - 575, 30.09.2019
Öz
Destekleyen Kurum
Yok.
Proje Numarası
Yok.
Teşekkür
Yok.
Kaynakça
- 1. Momenimovahed Z, Salehiniya H. epidemiological characteristics of and risk factors for breast cancer in the world. Breast Cancer (Dove Med Press) 2019;11:151-164.
- 2. Shiovitz S, Korde LA. Genetics of breast cancer: a topic in evolution. Ann Oncol 2015;26:1291-9.
- 3. Shah R, Rosso K, Nathanson SD. Pathogenesis, prevention, diagnosis and treatment of breast cancer. World J Clin Oncol 2014;5:283-98.
- 4. Buys SS, Sandbach JF, Gammon A, Patel G, Kidd J, Brown KL, et al. A study of over 35,000 women with breast cancer tested with a 25‐gene panel of hereditary cancer genes. Cancer 2017;123:1721-30.
- 5. Couch FJ, Shimelis H, Hu C, Hart SN, Polley EC, Na J, et al. Associations between cancer predisposition testing panel genes and breast cancer. JAMA Oncol 2017;3:1190-6.
- 6. Crawford B, Adams SB, Sittler T, van den Akker J, Chan S, Leitner O, et al. Multi-gene panel testing for hereditary cancer predisposition in unsolved high-risk breast and ovarian cancer patients. Breast Cancer Res Treat 2017;163:383-90.
- 7. Karakasis K, Burnier JV, Bowering V, Oza AM, Lheureux S. Ovarian cancer and BRCA1/2 testing: opportunities to improve clinical care and disease prevention. Front Oncol 2016;6:119.
- 8. Daly MB, Axilbund JE, Buys S, Crawford B, Farrell CD, Friedman S, et al. Genetic/familial high-risk assessment: breast and ovarian. J Natl Compr Canc Netw 2010;8:562-94.
- 9. Risch HA, McLaughlin JR, Cole DE, Rosen B, Bradley L, Kwan E, et al. Prevalence and penetrance of germline BRCA1 and BRCA2 mutations in a population series of 649 women with ovarian cancer. Am J Hum Genet 2001;68:700-10.
- 10. McKinnon PJ. ATM and ataxia telangiectasia. EMBO Rep 2004;5:772-6.
- 11. Jerzak K, Mancuso T, Eisen A. Ataxia–telangiectasia gene (ATM) mutation heterozygosity in breast cancer: a narrative review. Curr Oncol 2018;25:e176-e80.
- 12. Decker B, Allen J, Luccarini C, Pooley KA, Shah M, Bolla MK, et al. Rare, protein-truncating variants in ATM, CHEK2 and PALB2, but not XRCC2, are associated with increased breast cancer risks. J Med Genet 2017;54:732-41.
- 13. Lowery MA, Wong W, Jordan EJ, Lee JW, Kemel Y, Vijai J, et al. Prospective evaluation of germline alterations in patients with exocrine pancreatic neoplasms. J Natl Cancer Inst 2018;110:1067-74.
- 14. Eng L, Coutinho G, Nahas S, Yeo G, Tanouye R, Babaei M, et al. Nonclassical splicing mutations in the coding and noncoding regions of the ATM Gene: maximum entropy estimates of splice junction strengths. Hum Mutat 2004;23:67-76.
- 15. Telatar M, Teraoka S, Wang Z, Chun HH, Liang T, Castellvi-Bel S, et al. Ataxia-telangiectasia: identification and detection of founder-effect mutations in the ATM gene in ethnic populations. Am J Hum Genet 1998;62:86-97.
- 16. Yurgelun MB, Chenevix-Trench G, Lippman SM. Translating germline cancer risk into precision prevention. Cell 2017;168:566-70.
- 17. Stracker TH, Roig I, Knobel PA, Marjanovic M. The ATM signaling network in development and disease. Front Genet 2013;4:37.
- 18. Sandoval N, Platzer M, Rosenthal A, Dörk T, Bendix R, Skawran B, et al. Characterization of ATM gene mutations in 66 ataxia telangiectasia families. Hum Mol Genet 1999;8:69-79.
- 19. Weber-Lassalle N, Hauke J, Ramser J, Richters L, Gross E, Blümcke B, et al. BRIP1 loss-of-function mutations confer high risk for familial ovarian cancer, but not familial breast cancer. Breast Cancer Res 2018;20:7.
- 20. Huzarski T, Cybulski C, Domagała W, Gronwald J, Byrski T, Szwiec M, et al. Pathology of breast cancer in women with constitutional CHEK2 mutations. Breast Cancer Res Treat 2005;90:187-9.
- 21. Fulk K, LaDuca H, Black MH, Qian D, Tian Y, Yussuf A, et al. Monoallelic MUTYH carrier status is not associated with increased breast cancer risk in a multigene panel cohort. Fam Cancer 2019;18:197-201.
- 22. Waltes R, Kalb R, Gatei M, Kijas AW, Stumm M, Sobeck A, et al. Human RAD50 deficiency in a Nijmegen breakage syndrome-like disorder. Am J Hum Genet 2009;84:605-16.
- 23. Uzunoglu H, Korak T, Ergul E, Uren N, Sazci A, Utkan NZ, et al. Association of the nibrin gene (NBN) variants with breast cancer. Biomed Rep 2016;4:369-73.24. Seemanová E, Jarolim P, Seeman P, Varon R, Digweed M, Swift M, et al. Cancer risk of heterozygotes with the NBN founder mutation. J Natl Cancer Inst 2007;99:1875-80.
- 25. Antoniou AC, Casadei S, Heikkinen T, Barrowdale D, Pylkäs K, Roberts J, et al. Breast-cancer risk in families with mutations in PALB2. N Engl J Med 2014;371:497-506.
- 26. Bodian DL, McCutcheon JN, Kothiyal P, Huddleston KC, Iyer RK, Vockley JG, et al. Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing. PLoS One 2014;9:e94554.
- 27. Sy SM, Huen MS, Chen J. PALB2 is an integral component of the BRCA complex required for homologous recombination repair. Proc Natl Acad Sci U S A. 2009;106:7155-60.
- 28. Tan M-H, Mester JL, Ngeow J, Rybicki LA, Orloff MS, Eng C. Lifetime cancer risks in individuals with germline PTEN mutations. Clin Cancer Res 2012;18:400-7.
- 29. Stratton MR, Rahman N. The emerging landscape of breast cancer susceptibility. Nat Genet 2008;40:17-22.
- 30. Ni Y, Seballos S, Ganapathi S, Gurin D, Fletcher B, Ngeow J, et al. Germline and somatic SDHx alterations in apparently sporadic differentiated thyroid cancer. Endocr Relat Cancer 2015;22:121-30.
Multigene panel testing for hereditary breast cancer: An analysis of 70 BRCA-negative turkish patients
Öz
Objective: Although the molecular etiology of breast
cancer is not clearly known, hereditary genetic causes are responsible for
approximately 10%. In addition to BRCA1 and BRCA2 genes, there are many genes
that cause breast cancer. In this study, we performed a hereditary cancer
genetic panel test among hereditary breast cancer patients who are negative for
BRCA1 and BRCA2 genes. Accordingly, the frequency of mutations, causing
hereditary cancer among Turkish breast cancer patients, was investigated.
Method: All the 70 patients were unrelated and
provided BRCA testing criteria according to the National Comprehensive Cancer
Network guidelines, but they were reported as unfavorable. Qiagen large
hereditary cancer panel and Hereditary Cancer Solution v1.1 panel were used for
sequencing. The sequencing process was performed on the Illumina MiSeq system.
The data analyses were performed on QIAGEN Clinical Insight (QCI™) Analyze
software and Sophia DDM software.
Results: Of 70 patients, 6
(8.5%) were found to carry a pathogenic, and 1 (1.4%) were found to give a
likely pathogenic mutation. Pathogenic variants were detected in ATM, NBN,
PTEN, RAD51C genes; the likely pathogenic variant was discovered in the MUTYH
gene. Only, PTEN:c.407G>A mutation was found in two patients; the other
mutations were detected once in each patient. A nonsense alteration,
RAD51C:c.907G>T, was described as novel variant. The variant of uncertain
significance variants was detected in 10 patients (14.2%).
Conclusions: It is essential to
perform the hereditary cancer panel from index cases in families with high
cancer incidence, whose BRCA1/2 negative and molecular background has not been
elucidated, for preventive health policies. In addition, the identification of
common familial cancer genes will guide personalized therapy planning.
Anahtar Kelimeler
Proje Numarası
Yok.
Kaynakça
- 1. Momenimovahed Z, Salehiniya H. epidemiological characteristics of and risk factors for breast cancer in the world. Breast Cancer (Dove Med Press) 2019;11:151-164.
- 2. Shiovitz S, Korde LA. Genetics of breast cancer: a topic in evolution. Ann Oncol 2015;26:1291-9.
- 3. Shah R, Rosso K, Nathanson SD. Pathogenesis, prevention, diagnosis and treatment of breast cancer. World J Clin Oncol 2014;5:283-98.
- 4. Buys SS, Sandbach JF, Gammon A, Patel G, Kidd J, Brown KL, et al. A study of over 35,000 women with breast cancer tested with a 25‐gene panel of hereditary cancer genes. Cancer 2017;123:1721-30.
- 5. Couch FJ, Shimelis H, Hu C, Hart SN, Polley EC, Na J, et al. Associations between cancer predisposition testing panel genes and breast cancer. JAMA Oncol 2017;3:1190-6.
- 6. Crawford B, Adams SB, Sittler T, van den Akker J, Chan S, Leitner O, et al. Multi-gene panel testing for hereditary cancer predisposition in unsolved high-risk breast and ovarian cancer patients. Breast Cancer Res Treat 2017;163:383-90.
- 7. Karakasis K, Burnier JV, Bowering V, Oza AM, Lheureux S. Ovarian cancer and BRCA1/2 testing: opportunities to improve clinical care and disease prevention. Front Oncol 2016;6:119.
- 8. Daly MB, Axilbund JE, Buys S, Crawford B, Farrell CD, Friedman S, et al. Genetic/familial high-risk assessment: breast and ovarian. J Natl Compr Canc Netw 2010;8:562-94.
- 9. Risch HA, McLaughlin JR, Cole DE, Rosen B, Bradley L, Kwan E, et al. Prevalence and penetrance of germline BRCA1 and BRCA2 mutations in a population series of 649 women with ovarian cancer. Am J Hum Genet 2001;68:700-10.
- 10. McKinnon PJ. ATM and ataxia telangiectasia. EMBO Rep 2004;5:772-6.
- 11. Jerzak K, Mancuso T, Eisen A. Ataxia–telangiectasia gene (ATM) mutation heterozygosity in breast cancer: a narrative review. Curr Oncol 2018;25:e176-e80.
- 12. Decker B, Allen J, Luccarini C, Pooley KA, Shah M, Bolla MK, et al. Rare, protein-truncating variants in ATM, CHEK2 and PALB2, but not XRCC2, are associated with increased breast cancer risks. J Med Genet 2017;54:732-41.
- 13. Lowery MA, Wong W, Jordan EJ, Lee JW, Kemel Y, Vijai J, et al. Prospective evaluation of germline alterations in patients with exocrine pancreatic neoplasms. J Natl Cancer Inst 2018;110:1067-74.
- 14. Eng L, Coutinho G, Nahas S, Yeo G, Tanouye R, Babaei M, et al. Nonclassical splicing mutations in the coding and noncoding regions of the ATM Gene: maximum entropy estimates of splice junction strengths. Hum Mutat 2004;23:67-76.
- 15. Telatar M, Teraoka S, Wang Z, Chun HH, Liang T, Castellvi-Bel S, et al. Ataxia-telangiectasia: identification and detection of founder-effect mutations in the ATM gene in ethnic populations. Am J Hum Genet 1998;62:86-97.
- 16. Yurgelun MB, Chenevix-Trench G, Lippman SM. Translating germline cancer risk into precision prevention. Cell 2017;168:566-70.
- 17. Stracker TH, Roig I, Knobel PA, Marjanovic M. The ATM signaling network in development and disease. Front Genet 2013;4:37.
- 18. Sandoval N, Platzer M, Rosenthal A, Dörk T, Bendix R, Skawran B, et al. Characterization of ATM gene mutations in 66 ataxia telangiectasia families. Hum Mol Genet 1999;8:69-79.
- 19. Weber-Lassalle N, Hauke J, Ramser J, Richters L, Gross E, Blümcke B, et al. BRIP1 loss-of-function mutations confer high risk for familial ovarian cancer, but not familial breast cancer. Breast Cancer Res 2018;20:7.
- 20. Huzarski T, Cybulski C, Domagała W, Gronwald J, Byrski T, Szwiec M, et al. Pathology of breast cancer in women with constitutional CHEK2 mutations. Breast Cancer Res Treat 2005;90:187-9.
- 21. Fulk K, LaDuca H, Black MH, Qian D, Tian Y, Yussuf A, et al. Monoallelic MUTYH carrier status is not associated with increased breast cancer risk in a multigene panel cohort. Fam Cancer 2019;18:197-201.
- 22. Waltes R, Kalb R, Gatei M, Kijas AW, Stumm M, Sobeck A, et al. Human RAD50 deficiency in a Nijmegen breakage syndrome-like disorder. Am J Hum Genet 2009;84:605-16.
- 23. Uzunoglu H, Korak T, Ergul E, Uren N, Sazci A, Utkan NZ, et al. Association of the nibrin gene (NBN) variants with breast cancer. Biomed Rep 2016;4:369-73.24. Seemanová E, Jarolim P, Seeman P, Varon R, Digweed M, Swift M, et al. Cancer risk of heterozygotes with the NBN founder mutation. J Natl Cancer Inst 2007;99:1875-80.
- 25. Antoniou AC, Casadei S, Heikkinen T, Barrowdale D, Pylkäs K, Roberts J, et al. Breast-cancer risk in families with mutations in PALB2. N Engl J Med 2014;371:497-506.
- 26. Bodian DL, McCutcheon JN, Kothiyal P, Huddleston KC, Iyer RK, Vockley JG, et al. Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing. PLoS One 2014;9:e94554.
- 27. Sy SM, Huen MS, Chen J. PALB2 is an integral component of the BRCA complex required for homologous recombination repair. Proc Natl Acad Sci U S A. 2009;106:7155-60.
- 28. Tan M-H, Mester JL, Ngeow J, Rybicki LA, Orloff MS, Eng C. Lifetime cancer risks in individuals with germline PTEN mutations. Clin Cancer Res 2012;18:400-7.
- 29. Stratton MR, Rahman N. The emerging landscape of breast cancer susceptibility. Nat Genet 2008;40:17-22.
- 30. Ni Y, Seballos S, Ganapathi S, Gurin D, Fletcher B, Ngeow J, et al. Germline and somatic SDHx alterations in apparently sporadic differentiated thyroid cancer. Endocr Relat Cancer 2015;22:121-30.
Toplam 29 adet kaynakça vardır.
Ayrıntılar
| Birincil Dil | İngilizce |
|---|---|
| Konular | Sağlık Kurumları Yönetimi |
| Bölüm | Medical Science Research Makaleler |
| Yazarlar | |
| Proje Numarası | Yok. |
| Yayımlanma Tarihi | 30 Eylül 2019 |
| Kabul Tarihi | 27 Eylül 2019 |
| Yayımlandığı Sayı | Yıl 2019 |