Tumors of female reproductive systemTumors of female reproductive systemОпухоли женской репродуктивной системы1994-40981999-8627Publishing House ABV Press29210.17650/1994-4098-2009-0-1-2-59-63GYNECOLOGY. PROBLEMГИНЕКОЛОГИЯ. ПРОБЛЕМАBREAST AND/OR OVARIAN CANCER AS PART OF FAMILY CANCER SYNDROMEРАК МОЛОЧНОЙ ЖЕЛЕЗЫ И/ИЛИ ЯИЧНИКОВ В СОСТАВЕ НАСЛЕДСТВЕННОГО ОНКОЛОГИЧЕСКОГО СИНДРОМАLyubchenkoL. N.ЛюбченкоЛ. Н.
Russian Federation
PospelovaN. I.ПоспеховаН. И.
Russian Federation
ParokonnayaA. A.ПароконнаяА. А.
Russian Federation
ANAPAR1@yandex.ruLuzhnikovaA. A.ЛушниковаА. А.
Russian Federation
ChevkinaE. M.ЧевкинаЕ. М.
Russian Federation
N.N. Blokhin Russian Cancer Research Center, Russian Academy of Medical SciencesГУ РОНЦ им. Н.Н. Блохина РАМНMedical Genetics Research Center, Russian Academy of Medical Sciences, MoscowМГНЦ РАМН, Москва010520091-2596303092014030920142009https://ojrs.abvpress.ru/ojrs/article/view/292

The problems in the early diagnosis, primary and secondary prevention of family cancer of the breast and/or ovaries are successfully solved within medical genetic counseling at a cancer clinic. Its genetic diagnosis is confirmed, individual risks for breast and/or ovarian cancer are calculated, risk-modifying factors are studied, and treatment, family planning, and childbirth are discussed during clinicogenetic studies.

Вопросы ранней диагностики, первичной и вторичной профилактики наследственного рака молочной железы (РМЖ) и/или яичников (РЯ) с успехом решаются в рамках медико-генетического консультирования в условиях онкологической клиники. При клинико-генетическом обследовании подтверждается генетический диагноз, расчитываются индивидуальные риски развития РМЖ и/или РЯ, изучаются фак- торы модификации риска, обсуждаются вопросы лечения, планирования семьи и деторождения.

breast cancerovariesDNA diagnosisgenetic counselingмолочная железаяичникиДНК-диагностикагенетическое консультирование1. Jemal A., Tiwari R., Murray T. et al. Cancer statistics. CA Cancer J Clin 2004;54:8—29.Jemal A., Tiwari R., Murray T. et al. Cancer statistics. CA Cancer J Clin 2004;54:8—29.2. Поспехова Н.И., Логинова А.Н., Любченко Л.Н. и др. Молекулярно-генетические аспекты наследственной предрасположенности к раку молочной железы и/или яичников. С чем связана различная локализация рака при мутациях в генах BRCA. Мед генет 2005;1:23—7.Поспехова Н.И., Логинова А.Н., Любченко Л.Н. и др. Молекулярно-генетические аспекты наследственной предрасположенности к раку молочной железы и/или яичников. С чем связана различная локализация рака при мутациях в генах BRCA. Мед генет 2005;1:23—7.3. Weischer M., Allin K.H., Bojesen S.E. et al. Increased risk of breast cancer asso- ciated with CHEK2 1100del . J Clin Oncol 2007;25:57—63.Weischer M., Allin K.H., Bojesen S.E. et al. Increased risk of breast cancer asso- ciated with CHEK2 1100del . J Clin Oncol 2007;25:57—63.4. Eng C. One gene, many syndromes. Hum Mutat 2003;22:183—98.Eng C. One gene, many syndromes. Hum Mutat 2003;22:183—98.5. Walh T., Casadei S., Coats K. et al. Spectrum of mutations in BRCA1, BRCA2, CHEK2 and TP53 in families at high risk of breast cancer. JAMA 2006;295:1379—88.Walh T., Casadei S., Coats K. et al. Spectrum of mutations in BRCA1, BRCA2, CHEK2 and TP53 in families at high risk of breast cancer. JAMA 2006;295:1379—88.6. Offit K. BRCA mutation frequency and penetrance: new date, old debate. J Natl Cancer Inst 2006;98:1675—7.Offit K. BRCA mutation frequency and penetrance: new date, old debate. J Natl Cancer Inst 2006;98:1675—7.7. Szabo C., Worley T., Monteiro A. Understading germ-line mutations in BRCA1. Cancer Biol and Ther 2004;3:515—20.Szabo C., Worley T., Monteiro A. Understading germ-line mutations in BRCA1. Cancer Biol and Ther 2004;3:515—20.8. Cipollini G., Tommasi S., Paradiso A. et al. Genetic alterations in hereditary breast cancer. Ann Oncol 2004;1:7—13.Cipollini G., Tommasi S., Paradiso A. et al. Genetic alterations in hereditary breast cancer. Ann Oncol 2004;1:7—13.9. Карпухин А.В., Поспехова Н.И., Любченко Л.Н. и др. Частоты однонуклеотидных полиморфизмов и мутаций в гене BRCA1 при наследственно обусловленном раке молочной железы и яичников. ДАН 2002;383:1—4.Карпухин А.В., Поспехова Н.И., Любченко Л.Н. и др. Частоты однонуклеотидных полиморфизмов и мутаций в гене BRCA1 при наследственно обусловленном раке молочной железы и яичников. ДАН 2002;383:1—4.10. Levine D., Boyd J. The androgen receptor and genetic susceptibility to ovarian cancer. Cancer Res 200;61:908—11.Levine D., Boyd J. The androgen receptor and genetic susceptibility to ovarian cancer. Cancer Res 200;61:908—11.11. Любченко Л.Н. Генодиагностика наследственной предрасположенности к раку молочной железы и разработка системы индивидуального прогнозирования развития, течения и профилактики заболевания. Авто- реф. дис. ... канд. мед. наук. М., 2002.Любченко Л.Н. Генодиагностика наследственной предрасположенности к раку молочной железы и разработка системы индивидуального прогнозирования развития, течения и профилактики заболевания. Авто- реф. дис. ... канд. мед. наук. М., 2002.12. Honrado E., Btnitez J., Palacios J. The molecular pathology of hereditary breast cancer. Mod Pathol 2005;18:1305—20.Honrado E., Btnitez J., Palacios J. The molecular pathology of hereditary breast cancer. Mod Pathol 2005;18:1305—20.13. Bane A.L., Beck J.C., Daly M.B. et al. BRCA2 mutation-associated breast cancers exhibit a distinguishing phenotype based on morphology and molecular pro- files from tissue microarrays. Am J Surg Pathol 2007;31:121—8.Bane A.L., Beck J.C., Daly M.B. et al. BRCA2 mutation-associated breast cancers exhibit a distinguishing phenotype based on morphology and molecular pro- files from tissue microarrays. Am J Surg Pathol 2007;31:121—8.14. Jernstrom H., Lerman C., Ghadirian P. et al. Pregnancy and risk of early onset breast cancer in carriers of BRCA1 and BRCA2. Lancet 1999;354:1846—50.Jernstrom H., Lerman C., Ghadirian P. et al. Pregnancy and risk of early onset breast cancer in carriers of BRCA1 and BRCA2. Lancet 1999;354:1846—50.15. Rebbeck T., Wang Y., Kantoff P. et al. Modification of BRCA1 and BRCA2-asso- ciated breast cancer risk and reproductive history. Cancer Res 2001;61:5420—4.Rebbeck T., Wang Y., Kantoff P. et al. Modification of BRCA1 and BRCA2-asso- ciated breast cancer risk and reproductive history. Cancer Res 2001;61:5420—4.16. Tryggvadottir L., Olafsdottir E., Gudlaugsdottir S. et al. BRCA2 mutation carriers, reproductive factors and breast cancer risk. Breast Cancer Res 2003;5;121—8.Tryggvadottir L., Olafsdottir E., Gudlaugsdottir S. et al. BRCA2 mutation carriers, reproductive factors and breast cancer risk. Breast Cancer Res 2003;5;121—8.17. King M., Marks J., Mandell J. Breast and ovarian cancer risks due to inherited mutations in BRCA1 and BRCA2. Science 2003;302:643—6.King M., Marks J., Mandell J. Breast and ovarian cancer risks due to inherited mutations in BRCA1 and BRCA2. Science 2003;302:643—6.18. Jernstrom H., Lynh H., Ghadirian P. et al. Breast-feeding and the risk of breast cancer in BRCA carriers. J Natl Cancer Inst 2004;96:1094—8.Jernstrom H., Lynh H., Ghadirian P. et al. Breast-feeding and the risk of breast cancer in BRCA carriers. J Natl Cancer Inst 2004;96:1094—8.19. Culliance C., Lubinski J., Neuhausen S. et al. Effect of pregnancy as a risk factor for breast cancer in BRCA1/BRCA2 mutation carriers. Int J Cancer 2005;117:988—91.Culliance C., Lubinski J., Neuhausen S. et al. Effect of pregnancy as a risk factor for breast cancer in BRCA1/BRCA2 mutation carriers. Int J Cancer 2005;117:988—91.20. McLaughlin J., Risch H., Lubinski et al. Reproductive risk factors for ovarian can- cer in carriers of BRCA1 or BRCA2 mutations: a case-control study. Lanc Oncol 2007;8:26—34.McLaughlin J., Risch H., Lubinski et al. Reproductive risk factors for ovarian can- cer in carriers of BRCA1 or BRCA2 mutations: a case-control study. Lanc Oncol 2007;8:26—34.21. Friedman E., Kotsopoulos J., Lubinski J. et al. Spontaneous and thera- peutic abortions and risk of breast cancer among BRCA mutation carriers. Breast Cancer Res 2006;8:1—7.Friedman E., Kotsopoulos J., Lubinski J. et al. Spontaneous and thera- peutic abortions and risk of breast cancer among BRCA mutation carriers. Breast Cancer Res 2006;8:1—7.22. Ishida T., Yokoe T., Kasumi F. et al. Clinicopathologic characteristics and prognosis of breast cancer patients asso- ciated with pregnancy and lactation: analysis of case-control study in Japan Jpn J Cancer Res 1992;83:1143—9.Ishida T., Yokoe T., Kasumi F. et al. Clinicopathologic characteristics and prognosis of breast cancer patients asso- ciated with pregnancy and lactation: analysis of case-control study in Japan Jpn J Cancer Res 1992;83:1143—9.23. Johannsson O., Borg A., Olsson H. Pregnancy-associated breast cancer in BRCA1 and BRCA2 germline mutation carriers. Lancet 1998;352:1359—60.Johannsson O., Borg A., Olsson H. Pregnancy-associated breast cancer in BRCA1 and BRCA2 germline mutation carriers. Lancet 1998;352:1359—60.24. Fisher B., Constantino J., Wickerham D. et al. Tamoxifen for the prevention of breast cancer: current sta- tus of the National Surgical Adjuvant Breast and Bowel Project. J Natl Cancer Inst 2005;97:1652—62.Fisher B., Constantino J., Wickerham D. et al. Tamoxifen for the prevention of breast cancer: current sta- tus of the National Surgical Adjuvant Breast and Bowel Project. J Natl Cancer Inst 2005;97:1652—62.25. Vogel V., Costantino J., Wicktrham D. et al. Effects of tamoxifen as raloxifene on the risk of developing invasive breast cancer and other disease outcomes: the NSABP Study P-2 trial. JAMA 2006;295:2727—41.Vogel V., Costantino J., Wicktrham D. et al. Effects of tamoxifen as raloxifene on the risk of developing invasive breast cancer and other disease outcomes: the NSABP Study P-2 trial. JAMA 2006;295:2727—41.26. Chien A., Goss P. Aromatase inhibitors and bone health in women with breast can- cer. J Clin Oncol 2006;24:5305—12.Chien A., Goss P. Aromatase inhibitors and bone health in women with breast can- cer. J Clin Oncol 2006;24:5305—12.27. Grondwald J., Tung N., Foulkes W. et al. Tamoxifen and contralateral breast cancer in BRCA1 and BRCA2 carriers. Int J Cancer 2006;118:2281—4.Grondwald J., Tung N., Foulkes W. et al. Tamoxifen and contralateral breast cancer in BRCA1 and BRCA2 carriers. Int J Cancer 2006;118:2281—4.28. Rebbeck T., Friebel T., Lynch H. et al. Bilateral prophylactic mastectomy reduces breast cancer risk in BRCA1 and BRCA2 mutation carriers: the PROSE Study Group. J Clin Oncol 2004;22:1055—62.Rebbeck T., Friebel T., Lynch H. et al. Bilateral prophylactic mastectomy reduces breast cancer risk in BRCA1 and BRCA2 mutation carriers: the PROSE Study Group. J Clin Oncol 2004;22:1055—62.29. Finch A., Beiner M., Lubinski J. et al. Salpingo-oophorectomy and risk of ovarian, fallopian tube and peritoneal cancers in women with BRCA1 or BRCA2 muta- tion. JAMA 2006;296:185—92.Finch A., Beiner M., Lubinski J. et al. Salpingo-oophorectomy and risk of ovarian, fallopian tube and peritoneal cancers in women with BRCA1 or BRCA2 muta- tion. JAMA 2006;296:185—92.30. Rebbeck T., Friebel T., Wagner T. et al. Effect of short-term hormone replace- ment therapy on breast cancer risk reduction after bilateral prophylactic oophorectomy in BRCA1 and BRCA2 mutation car- riers. J Clin Jncol 2005;23:7804—10.Rebbeck T., Friebel T., Wagner T. et al. Effect of short-term hormone replace- ment therapy on breast cancer risk reduction after bilateral prophylactic oophorectomy in BRCA1 and BRCA2 mutation car- riers. J Clin Jncol 2005;23:7804—10.31. Meijers-Heijboer E., Verghoog L., Brekelmans C. et al. Presymptomatic DNA testing and prophylactic surgery in families with a BRCA mutations. Lancet 2000;355:2015—20.Meijers-Heijboer E., Verghoog L., Brekelmans C. et al. Presymptomatic DNA testing and prophylactic surgery in families with a BRCA mutations. Lancet 2000;355:2015—20.32. Botkin J., Smith K., Croyle R. et al. Genetic testing for BRCA1 mutation: prophylactic surgery and screening behavior in women two years post testing. Am J Hum Genet 2003;11:201—9.Botkin J., Smith K., Croyle R. et al. Genetic testing for BRCA1 mutation: prophylactic surgery and screening behavior in women two years post testing. Am J Hum Genet 2003;11:201—9.33. Narod S., Foulkes W. BRCA1 and BRCA2: 1994and beyond. Nat Rev Cancer 2004;4:665—76.Narod S., Foulkes W. BRCA1 and BRCA2: 1994and beyond. Nat Rev Cancer 2004;4:665—76.34. Whittemore A. et al. Oral contracep- tive use and ovarian cancer risk among carriers of BRCA1 or BRCA2 mutation. Br J Cancer 2004;91:1911—5.Whittemore A. et al. Oral contracep- tive use and ovarian cancer risk among carriers of BRCA1 or BRCA2 mutation. Br J Cancer 2004;91:1911—5.35. Liede A., Aurell R., Turner C. et al. Preimplantation genetic diagnosis: patients experiences and attitudes. Hum Reprod 2002;17:2464—7.Liede A., Aurell R., Turner C. et al. Preimplantation genetic diagnosis: patients experiences and attitudes. Hum Reprod 2002;17:2464—7.