Preview

Medical and Biological Problems of Life Activity

Advanced search

CLINICO-MORPHOLOGICAL FEATURES OF BREAST CANCER IN PATIENTS WITH GERMLINE BRCA1, BRCA2 AND CHEK2 MUTATIONS

Abstract

There has been performed the analysis of the clinico-morphological characteristics of breast cancer in 849 patients, including groups with mutations of the BRCA1, BRCA2 and CHEK2 genes. There has been performed the comparison of the groups with each other and with the group without the mutation. Spread tumors and tumors with higher clinical stage have been more common and tumors with negative estrogen receptor status and double- negative receptor status have been less common for patients with CHEK2 mutations than patients with BRCA1 mutations. The three times greater frequency of the presence of breast cancer and/or ovarian cancer in family history has been difference between the subgroups of patients with a 5382insC mutation and the subgroups with 300T> G, 4153delA, 185delAG mutations of the BRCA1.

About the Authors

V. N. Martinkov
ГУ "РНПЦ радиационной медицины и экологии человека"
Russian Federation


E. A. Nadyrov
ГУ "РНПЦ радиационной медицины и экологии человека"
Russian Federation


A. E. Silin
ГУ "РНПЦ радиационной медицины и экологии человека"
Russian Federation


References

1. Breast cancer susceptibility: current knowledge and implications for genetic counselling / T. Ripperger [et al.] // Europ. J. of Human Genetics. - 2009. - Vol. 17, № 6. - P. 722-731.

2. Nevanlinna, H. The CHEK2 gene and inherited breast cancer susceptibility / H. Nevanlinna, J. Bartek // Oncogene. - 2006. - Vol. 25, № 43. - P. 5912-5919.

3. Любченко, Л.Н. Медико-генетическое консультирование и ДНК-диагностика при наследственной предрасположенности к раку молочной железы и раку яичников [Электронный ресурс] : пособие для врачей / Л.Н. Любченко, Е.И. Батенева - М. : Рос. онкол. науч. центр, 2014. - Режим доступа: http://dna-technology.ru/files/images/metodichki/posobie.pdf. - Дата доступа: 21.12.2014.

4. Tan, D.S. Hereditary breast cancer: from molecular pathology to tailored therapies / D.S. Tan, C. Marchiт, J.S. Reis-Filho // J. of Clinical Pathology. - 2008. - Vol. 61, № 10. - P. 1073-1082.

5. Stratton, M.R. Pathology of familial breast cancer: differences between breast cancers in carriers of BRCA1 or BRCA2 mutations and sporadic cases. Breast Cancer Linkage Consortium / M.R. Stratton // Lancet. - 1997. - Vol. 349, № 9064. - P. 1505-?1510.

6. Estrogen receptor status in BRCA1- and BRCA2-related breast cancer: the influence of age, grade, and histological type / W.D. Foulkes [et al.] // Clinical Cancer Research. - 2004. - Vol. 10, № 6. - P. 2029-2034.

7. The complex relationship between BRCA1 and ERalpha in hereditary breast cancer / J.J. Gorski [et al.] // Clinical Cancer Research. - 2009. - Vol. 15, № 5. - P. 1514-?1518.

8. Chappuis, P.O. Clinico-pathological characteristics of BRCA1- and BRCA2-related breast cancer / P.O. Chappuis, V. Nethercot, W.D. Foulkes // Seminars in Surgical Oncology. - 2000. - Vol. 18, № 4. - P. 287-295.

9. Genotype-phenotype correlations among BRCA1 4153delA and 5382insC mutation carriers from Latvia / G. Plakhins [et al.] // BMC medical genetics. - 2011. - Vol. 12, № 1. - P. 147.

10. Бит-Сава, Е.М. Генотип-фенотипические корреляции у больных раком молочной железы с мутациями BRCA1 ( 4153delA , 185delAG , 5382insC) / Е.М. Бит-Сава, В.Ф. Семиглазов, Е.Н. Имянитов // Опухоли жен. репродуктив. системы. - 2014. - № 2. - С. 8-11.

11. Confirmation of BRCA1 by analysis of germline mutations linked to breast and ovarian cancer in ten families / L.S. Friedman [et al.] // Nature Genetics. - 1994. - Vol. 8, № 4. - P. 399-404.

12. A novel founder CHEK2 mutation is associated with increased prostate cancer risk / C. Cybulski [et al.] // Cancer Research. - 2004. - Vol. 64. - P. 2677-2679.

13. Development of breast tumors in CHEK2, NBN/NBS1 and BLM mutation carriers does not commonly involve somatic inactivation of the wild-type allele / E.N. Suspitsin [et al.] // Med. Oncology. - 2014. - Vol. 31, № 2. - P. 828.

14. Халафян, А.А. Statistica 6: статистический анализ данных: учебник / А.А. Халафян. - 3-е изд. - М.: Бином: Бином-Пресс, 2007. - 503 с.

15. CHEK2-positive breast cancers in young Polish women / C. Cybulski [et al.] // Clinical Cancer Research. - 2006. - Vol. 12, № 16. - P. 4832-4835.

16. Tumour characteristics and prognosis of breast cancer patients carrying the germline CHEK2*1100delC variant / G.H. de Bock [et al.] // J. of Med. Genetics. - 2004. - Vol. 41, № 10. - P. 731-735


Review

For citations:


Martinkov V.N., Nadyrov E.A., Silin A.E. CLINICO-MORPHOLOGICAL FEATURES OF BREAST CANCER IN PATIENTS WITH GERMLINE BRCA1, BRCA2 AND CHEK2 MUTATIONS. Medical and Biological Problems of Life Activity. 2016;(2):40-47. (In Russ.)

Views: 80


Creative Commons License
This work is licensed under a Creative Commons Attribution 4.0 License.


ISSN 2074-2088 (Print)