Молекулярный анализ гена BRCA1 у больных семейными формами рака молочной железы и яичника в Санкт-Петербурге
Диссертация
В настоящее время в мире известно более 1200 мутаций в гене BRCA1 (Breast Cancer Information Core, BIC). Встречаемость вариантов последовательности гена BRCA1 сильно отличается между разными популяциями и этническими группами, и в каждом регионе есть свои наборы мажорных и минорных мутаций, предрасполагающих к заболеванию. Поэтому только знание национальных и этнических особенностей спектров… Читать ещё >
Список литературы
- ЬАйала Ф., Кайгер Дж. Современная генетика, (в Зх томах)// (1988) Москва, Мир т.З.
- Аксель Е.М., Давыдов М И. Статистика заболеваемости и смертности от злокачественных образований в 2000 году.// Злокачественные новообразования в России и странах СНГ в 2000 году (2002) 85−106.
- Баранов B.C., Баранова Е. В., Иващенко Т. Э., Асеев М. В. Геном человека и гены «предрасположенности». (Введение в предиктивную медицину).// (2000) СПб: Интермедика.
- Баранова А.В., Янковский Н. К. Гены супрессоры опухолевого роста.// Молекулярная Биология (1998) т. 32, № 2. с. 206−218.
- Грудинина Н. А, Голубков В. И.,. Тихомирова О. С. и др. Преобладание широко распространенных мутаций в гене BRCA1 у больных семейными формами рака молочной железы Санкт-Петербурга.// Генетика. (2005) 41(3):405—410.
- 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.// Доклады академии наук (2002) 383(5):706−709.
- Лакин Г. Ф. Биометрия //(1973) Москва: Высшая школа.
- Мандельштам М.Ю., Голубков В. И., Ламбер Е. П. и др. Поиск часто встречающихся мутаций в генах предрасположенности к раку молочной железы.// Генетика (2001) 37(12): 1681 -1686.
- Маниатис Т., Фрич Э., Сэмбрук Дж. Методы генетической инженерии. Молекулярное клонирование.// Москва: Мир (1984) 480 с.
- П.Остерман JI. А. Методы исследования белков и нуклеиновых кислот. Электрофорез и ультрацентрифугирование.// Москва: Наука (1981) с. 131−135.
- Рыбчин В.Н. Основы генетической инженерии.// СПб: Изд-во СПбГТУ (1999) 522 с.
- Тихомирова О.С., Грудинина Н. А., Голубков В. И., Мандельштам М. Ю., Васильев В. Б. Новые мутации в гене BRCA1 у пациентов с раком молочной железы из Санкт-Петербурга.//Л?"егаика, (2007) 43(9).
- Anderson S.F., Schlegel В.Р., Nakajima Т., Wolpin E.S., Parvin J.D. BRCA1 protein is linked to the RNA polymerase II holoenzyme complex via RNA helicase.// A. Nat. Genet. (1998) 19:254−256.
- Antoniou A.C., Gayther S.A., Stratton J.F. et al. Risk models for familial ovarian and breast cancer // Genet. Epidemiol. 2000. — Vol. 18, N 2. — P. 173 — 190.
- Arason A., Barkardottir R.B., Egilsson V. Linkage analysis of chromosome 17q markers and breast-ovarian cancer in Icelandic families, and possible relationship to prostatic cancer. Am. J. Hum. Genet. (1993) 52: 711−717.
- Arver В., Quan Du., Chen J. et al., Hereditary breast cancer: a review //Cancer biology, Vol. 10, 2000: pp. 271−288
- Backe J., Hofferbert S., Skawran В., et al: Frequency of BRCA1 mutation 5382insC in German breast cancer patients.// Gynecol. Oncol. (1999) 72:402 406.
- Balci A., Huusko P., Paakkonen K. et al. Mutation analysis of BRCA1 and BRCA2 in Turkish cancer families: a novel mutation BRCA2 3414deI4 found in male breast cancer.// Eur. J. Cancer (1999) 35(5):707−10.
- Baudi F., Quaresima В., Grandinetti C. et al. Evidence of a Founder Mutation of BRCA1 in a highly homogeneous population from Southern Italy with breast/ovarian cancer.// Human Mutation: Mutation in Brief #431 (2001) Online.
- Bell G.I., Karam J.H., Rutter W.J. Polymorphic DNA region adjacent to the 5'-end of the human insulin gene.// Proc. Natl. Acad. Sci. (1981) 78: 57 595 763.
- Beller U, Halle D, Catane R et al. High frequency of BRCA1 and BRCA2 germline mutations in Ashkenazi Jewish ovarian cancer patients, regardless of family history.// Gynecol. Oncol. (1997) 67(2):123−126.
- BIC (Breast Cancer Informational Core): http://www.nhgri.nih.gov/Intramural research/Lab transfer/Bic/
- Bork P., Hofmann K., Bucher P., Neuwald A.F., Altschul S.F., Koonin E.V. A superfamily of conserved domains in DNA damage-responsive cell cycle checkpoint proteins. UFASEB J. (1997) 11:68−76.
- Callebaut I., Mornon J.P. From BRCA1 to RAP1: a widespread BRCT module closely associated with DNA repair. IIFEBSLett. (1997) 400:25−30-
- Chen C.F., Li S., Chen Y., Chen P.L., Sharp Z.D., Lee W.H. The nuclear localization sequences of the BRCA1 protein interact with the importin-a subunit of the nuclear transport signal receptor. HJ. Biol. Chem. (1996(a)) 271:32 863−32 868.
- Chen Y., Farmer A.A., Chen C.F., Jones D.C., Chen P.L., Lee W.H. BRCA1 is a 220 kDa nuclear phosphoprotein that is expressed and phosphorylated in a cell cycle dependent manner. I I Cancer Res. (1996(6)) 56:3168−3172.
- Chen Y., Lee W.-H., Chew H.K. Emerging roles of BRCA1 in transcriptional regulation and DNA repairЛ J. of Cellular Physiology (1999) 181:385−392.
- Claes K., Machackova E., De Vos M., et. al. Mutation analysis of the BRCA1 and BRCA2 genes in the Belgian patient population and identification of a Belgian founder mutation BRCA1 IVS5 + ЗА > G.// Dis. Markers (1999) 15:69−73.
- Claus E.B.- Risch N.- Thompson W.D. Genetic analysis of breast cancer in the cancer and steroid hormone study.// Am. J. Hum. Genet. (1991) 48: 232 242.
- Claus E.B., Schildkraut J.M., Thompson W.D., Risch N.J. The genetic attributable risk of breast and ovarian cancer.// Cancer (1996) 77:2318−2324.
- Csokay В., Tihomirova L., Stengrevics A., Sinicka 0., Olah E. Stron g founder effects in BRCA1 mutation carrier breast cancer patients from Latvia.// Human Mutation: Mutation in Brief #2585 (1999) Online.
- Dufault M.R., Betz В., Wappenschmidt B. et al. Limited relevance of the СНЕК2 gene in hereditary breast cancer // Int. J. Cancer. 2004. — Vol. 110, N 3.-P. 320−325.
- Durocher F., Tonin P., Shattuck-Eidens D., Skolnick M., Narod S.A., Simard J. Mutation analysis of the BRCA1 gene in 23 families with cases of cancer of the breast, ovary, and multiple other sites.// J. Med. Genet. (1996) 33(10):814−819.
- Easton D.F., Bishop D.T., Ford D., Crockford G.P. Genetic linkage analysis in familial breast and ovarion cancer: results from 214 families. The Breast Cancer Linkage Consortium Л Am. J. Hum. Genet. (1993) 52:678−701.
- Einbeigi Z., Bergman A., Kindblom L.G. et al. A founder mutation of the BRCA1 gene in Western Sweden associated with a high incidence of breast and ovarian cancer Л Eur. J. Cancer. (2001) 37(15):1904−1909.
- Erkko H., Xia В., Nikkila J. et al. A recurrent mutation in PALB2 in Finnish cancer families.// Nature (2007) 446:316−319
- Evans D.G., Howell A. Are BRCA1- and BRCA2-related breast cancers associated with increased mortality? // Breast Cancer Res. (2004) 6:8−17.
- Fan S., Wang J., Yuan R., Ma Y., Meng Q., Erdos M.R., Pestell R.G., Yuan F., Auborn K.J., Goldberg I.D., Rosen E.M. BRCA1 inhibition of estrogen receptor signalling in trsncfected cells Л Science (1999) 284:1354−1356.
- Fodor F.H., Weston A., Bleiweis I.J. et al. Frequency and carier risk associated with common BRCA1 and BRCA2 mutations in Ashkenazi Jewish breast cancer patients II Am. J. Hum. Genet. (1998) 63:45−51.
- Friedman L.S., Ostermeyer E.A., Szabo C.I. et al. Confirmation of BRCA1 by analysis of germline mutations linked to breast and ovarian cancer in ten families.// Nature Genet. (1994) 8:399−404.
- Gayther S.A., Harrington P., Russell P. et al. Frequently occurring germ-line mutations of the BRCA1 gene in ovarian cancer families from Russia.// Am. J. Human. Genet. (1997) 5:1239−1242.
- Gayther S.A., Russell P., Harrington P. et al. The contribution of germline BRCA1 and BRCA2 mutations to familial ovarian cancer: no evidence for other ovarian cancer-susceptibility genes.// Am. J. Hum. Genet. (1999) 65:1021−1029.
- Goelen G., Teugels E., Bonduelle M. et al. High frequency of BRCA½ germline mutations in 42 Belgian families with a small number of symptomatic subjects.// J. Med. Genet. (1999) 36(4):304−308.
- Gorski В., Byrski Т., Huzarski T. et al. Report founder mutations in the BRCA1 gene in Polish families with breast-ovarian cancer.// Am. J. Hum. Genet. (2000) 66:1963−1968.
- Gowen L.C., Johnson B.L., Latour A.M. et al. Brcal deficiency results in early embryonic lethality characterized by neuroepithelial abnormalities.// Nature Genet. (1996) 12:191−194.
- Greenman J., Mohammed S., Ellis D. et. al. Identification of missens and truncating mutations in the BRCA1 gene in sporadic and familial breast and ovarian cancer.// Genes, Chrom. and Cancer (1998) 21:244−249
- Grzybowska E., Zientek H., Jasinska A. et al. High frequency of recurrent mutations in BRCA1 and BRCA2 genes in Polish families with breast and ovarian cancer // Hum. Mutat. (2000) 16(6):482−490.
- Hadjisawas A., Adamou A., O’Dowdphanis C. et al. Q356R and S1512I are BRCA1 variants that may be associated with breast cancer in a Cypriot family.// Oncology reports (2002) 9:383−366.
- Hakem R., de la Pompa J.L., Sirard C. et al. The tumor suppressor gene Brcal is required for embryonic cellular proliferation in the mouse.// Cell (1996)85:1009−1023.
- Hall J.M., Lee M.K., Newman B. et al. Linkage of early-onset familial breast cancer to chromosome 17q21.// Science (1990) 250:1684−1689.
- Harkin P.D., Bean J.M., Miklos D. et al. Induction of GADD45 and JNK/SAPK-dependent apoptosis following inducible expression of BRCA1.// Cell (1999) 97:575−586.
- Hilakivi-Clarke L. Estrogens, BRCA1, and breast cancer. Cancer Res. (2000) 60(18):4993−5001.
- Huusko P. Predisposing genes in hereditery breast and ovarian cancer.
- Oulun Yliopisto, Oulu (1999) Сhttp://herkules.oulu.fi/issn03553221/)
- Isaacs S.D.- Kiemeney L.A.L.M.- Baffoe-Bonnie A. et al. Risk of cancer in relatives of prostate cancer probands.// J. Nat. Cancer Inst. (1995) 87: 991−996.
- Janezic S. A, Ziogas A, Krumroy L.M. et al. Germline BRCA1 alterations in a population-based series of ovarian cancer cases.// Hum. Molec. Genet. (1999) 8:889−897.
- Jasin M. LOH and Mitotic recombination.// DNA Alternations in cancer. Ed. Ehrlich M. (2000) Eaton Publishing: Natick, MA.
- Jacquemier J, Lidereau R, Birnbaum D. et al. Assessing the risk of BRCAl-associated breast cancer using individual morphological criteria // Histopathol. (2001) 38:378−379.
- Jasinska A, Krzyzosiak W.J. Prevalence of BRCA1 founder mutations in Western Poland.// Human Mutation: Mutation in Brief #389 (2000) Online.
- Kauff N. D, Perez-Segura P, Robson M.E. et al. Incidence of non-founder BRCA1 and BRCA2 mutations in high risk Ashkenazi breast and ovarian cancer families.///, of Medical Genet. (2002) 39:611−614.
- King M.-C, Marks J.H., Mandell J. B, New York Breast Cancer Study Group. Breast and ovarian cancer risks due to inherited mutations in BRCA1 and BRCA2 // Science (2003) 302(5645):643−646.
- Koonin E. V, Altschul S. F, Bork P. BRCA1 protein products: functional motifs.// Nature Genet. (1996) 13:266−267.
- Krainer M., Silva-Arrieta S, Fitzgerald M.G. et al. Differential contributions of BRCA1 and BRCA2 to early-onset breast cancer.// New Eng. J. Med. (1997) 336:1416−1421.
- Kunkel L. M, Smith K. D, Boyer S.H. et al. Analyses of human Y-chromosome-specific reiterated DNA in chromosome variants.// Proc. Natl. Acad. Sci. USA (1977) 74:1245−1249.
- Lakhani S.R., Jacquemier J., Sloane J.P. et al. Multifactorial analysis of differences between sporadic breast cancers and cancers involving BRCA1 and BRCA2 mutations //J. Natl. Cancer. Inst. (1998) 90(15): 1138−1145.
- Langston, A. A.- Malone, К. E.- Thompson, J. D. et al. BRCA1 mutations in a population-based sample of young women with breast cancer.// New Eng. J. Med. (1996) 334: 137−142.
- Levitt N.C., Hickson I.D. Caretaker tumour suppressor genes that defend genome integrity .//TRENDS in Molecular Medicine (2002) 8(4):179−186.
- Levy-Lahad E., Catane R., Eisenberg Sh. et. al. Found er BRCA1 and BRCA2 mutations in Ashkenazi Jews in Israel: Frequency and differential penetrance in ovarian cancer and in breast-ovarian families.// Am. J. Human. Genet. (1997) 60:1059−1067.
- Li S., Chen P.L., Subramanian T. et al. Binding of CtIP to the BRCT repeats of BRCA1 involved in transcription regulation of p21 is disrupted upon DNA damage.// J. Biol. Chem. (1999) 274:11 334−11 338.
- Liu C.Y., Flesken- Nikitin A., Li S. et al. Inactivation of the mouse Brcal gene leads to failure in the morphogenesis of the egg cylinder in early postimplantation development.// Genes Dev. (1996) 10:1835−1843.
- Lu M., Conzen S.D., Cole C.N., Arrick A. Characterization of functional messenger RNA splice variants of BRCA1 expressed in nonmalignant and tumor-derived breast cells.// Cancer Res. (1996) 56:4578−4581.
- Machackova E., Damborsky J., Valik D., Foretova L. Novel germline BRCA1 and BRCA2 mutations in breast and breast/ovarian cancer families from the Czech Republic.// Human Mutation: Mutation in Brief #459 (2001) Online.
- Machackova E., Navratilova M., Pavlu H. et al. Germline mutations in BRCA1 and BRCA2 genes in the Czech hereditary forms of breast/ovarian cancer.// Abstract book of 11th international Congress of Human Genetics. Stratsburg, France (2002).
- Mandelshtam M.Ju., Chakir Kh., Shevtsov S.P. et al. Prevalence of Lithuanian mutation among St. Petersburg Jews with familial hypercholesterolemia // Hum. Mutat. (1998) 12(4):255−258.
- Manguoglu A.E., Luleci G., Ozcelik T. et al. Germline mutations in the BRCA1 and BRCA2 genes in Turkish breast/ovarian cancer patients.// Hum. Mutat. (2003) 21(4):444−445.
- Meijers-Heijboer H., van den Ouweland A., Klijn J. et al. Low-penetrance susceptibility to breast cancer due to CHEK2 * llOOdelC in noncarriers of BRCA1 or BRCA2 mutations.//Ata. Genet. (2002) 31(l):55−59.
- Miki Y., Swensen J., Shattuck-Eidens D. et al. A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1.// Science (1994) 266:6671.
- Nadeau G., Boufaied N., Moisan A., et al. BRCA1 can stimulate gene transcription by a unique mechanism Л EMBO Reports. (2000) l (3):260−265.
- Narod S.A., Foulkes D.W. BRCA1 and BRCA2:1994 and beyond.// Nature Reviews. Cancer. (2004)4:665−676.
- Nastiuk K.L., Mansukhani M., Terry M.B. et al. Common mutations in BRCA1 and BRCA2 do not contribute to early prostate cancer in Jewish men.// Prostate (1999) 40: 172−177.
- Neuhausen S., Gilewski Т., Nortron L. et. al. Recurrent BRCA2 6174deIT mutations in Ashkenazi Jewish women affected by breast cancer.// Nature Genet. (1996) 13:126−128.
- Peelen Т., van Vliet M., Petrij-Bosch A., et al: A high proportion of novel mutations in BRCA1 with strong founder effects among Dutch and Belgian hereditary breast and ovarian cancer families.// Am. J. Hum. Genet. (1997) 60:1041−1049.
- Perkowska M., Brozek I., Wysocka B. et al. BRCA1 and BRCA2 mutation analysis in breast-ovarian cancer families from Northeastern Poland.// Human Mutation: Mutation in Brief #610 (2003) Online.
- Petrij-Bosch A., Peelen Т., van Vliet M., et. al. BRCA1 genomic deletions are major founder mutations in Dutch breast cancer patients.// Nat. Genet. (1997) 17:341−345.
- Phelan C.M., Kwan E., Jack E. et al. A low frequency of non-founder BRCA1 mutations in Ashkenazi Jewish breast-ovarian cancer families.// Human Mutat. (2002) 20(5):352−357.
- Roa B.B., Boyd A.A., Volcik K., Richards C.S. Ashkenazi Jewish population frequencies for common mutation in BRCA1 and BRCA2.// Nature Genet. (1996) 14:185−187.
- Robson M.E., Boyd J., Borgen P.I., Cody H.S. Hereditary breast cancer.// Curr. Probl. Surg. (2001) 38:387−480.
- Sanger F., Nicklen S., Coulson A.R. DNA sequencing with chain-terminating inhibitors.//Proc. Natl. Acad. Sci. USA. (1977) 74: 5463−5467.
- Seen. D., Wu. Y., Chillar R., Vadgama J.V. Missense alterations of BRCA1 gene detected in diverse cancer patients.// Anticancer Res. (2000) 20(2B): 1129−32.
- Scheuer L., KauffN., Robson M. et al. Outcome of preventive surgery and screening for breast and ovarian cancer in BRCA mutation carriers.// J. Clin. Oncol. (2002) 20(5):1260−1268.
- Schorge J.O., Muto M.G., Welch W.R.et al. Molecular evidence for multifocal papillary serous carcinoma of the peritoneum in patients with germline BRCA1 mutations.// J. Nat. Cancer Inst. (1998) 90: 841−845.
- Schutte M., Seal S., Barfoot R. et al. Variants in CHEK2 other than llOOdeIC do not make a major contribution to breast cancer susceptibility.// Am. J. Hum. Genet. (2003) 72(4):1023−1028.
- Scully R., Chen J.J., Ochs R.L. et al. Dynamic changes of BRCA1 subnuclear location and phosphorylation state are initiated by DNA damage.// Cell (mi) 90:425−435
- Shiri-Sverdlov R., Oefner P., Green L. et al. Mutational analyses of BRCA1 and BRCA2 in Ashkenazi and non-Ashkenazi Jewish women with familial breast and ovarian cancer.// Human Mutation (2000) 16, 6:491−501.
- Smith T.M., Lee M.K., Szabo C.I. et al. Complete genomic sequence and analysis of 117 kb of human DNA containing the gene BRCA1.// Genome Res. (1996) 6(ll):1029−49.
- Struewing J.P., Hartge P., Wacholder S. et al. The risk of cancer associated with specific mutations of BRCA1 and BRCA2 among ashkenazi jews.// The New England Journal of Medicine (1997) 336(20):1401−1408.
- Tereshenko I.V., Basham V.M., Ponder B.A.J., Pharoah P.D.P. BRCA1 and BRCA2 mutations in russian familial breast cancer.// Human Mutation: Mutation in Brief #479 (2002) Online.
- Thompson M.E., Jensen R.A., Obermiller P. S. et al. Decreased expression of BRCA1 accelerates growth and is often present during sporadic breast cancer progression.// Nature Genet. (1995) 9:444−450.
- Tobias D.H., Eng C., McCurdy L.D. et al. Founder BRCA 1 and 2 mutations among a consecutive series of Ashkenazi Jewish ovarian cancer patients Л Gynecol Oncol. (2000) 78(2): 148−51.
- Vehmanen P., Friedman L.S., Eerola H. et al. Low proportion of BRCA1 and BRCA2 mutations in Finnish breast cancer families: evidence for additional susceptibility genes Л Hum. Mol. Genet. (1997) 6(13):2309−2315.
- Venkitaraman A.R. Cancer susceptibility and the functions of BRCA1 and BRCA2.// Cell (2002) 108:171−182.
- Wang Q., Zhang H., Kajino K., Greene M.I. BRCA1 binds c-Myc and inhibits its transcriptional and transforming activity in cells.// Oncogene (1998) 17:1939−1948.
- Wang Y., Cortez D., Yazdi P. et al. BASC, a super complex of BRCA1-associated proteins involved in the recognition and repair of aberrant DNA structures.// Genes Dev. (2000) 14(8):927−939.
- Wilson C.A., Payton M.N., Elliott G.S. et al. Differential subcellular localization, expression and biological toxicity of BRCA1 and the splice variant BRCAl-Dllb.// Oncogene (1997) 14: 1−16.
- Wong A.K., Ormonde P.A., Pero R. et al. Characterization of a carboxy-terminal BRCA1 interacting protein.// Oncogene (1998) 17:2279−2285.
- Wooster R., Bignell G., Lancaster J. et al. Identification of the breast cancer susceptibility gene BRCA2.// Nature (1995) 378(6559):789−792.
- Wooster R., Weber B.L. Breast and ovarian cancer.// New Engl. J. Med. (2003) 348(23):2339−2347.
- Wooster R., Bignell G., Lancaster J. et al. Identification of the breast cancer susceptibility gene BRCA2Л Nature (1995) 378:789−792.
- Xu C.-F., Brown M.A., Chambers J.A. et al. Distinct transcription start sites generate two forms of BRCA1 mRNA.// Hum. Mol. Genet. (1995) 4:22 592 264.
- Xu C.-F., Chambers J.A., Nicolai H. et al. Mutations and alternative splicing of the BRCA1 gene in UK breast/ovarian cancer families.// Genes Chrom. Cancer (1997) 18:102−110.
- Yu X., Wu L.C., Bowcock A.M. et al. The C-terminal (BRCT) domains of BRCA1 interact in vivo with CtIP, a protein implicated in the CtBP pathway of transcriptional repression.// J. Biol. Chem. (1998)273:25 388−25 392.
- Zheng L., Annab L.A., Afshari C.A. et al. BRCA1 mediates Iigand-independent transcriptional repression of the estrogen receptor.// /W^S^OOl) 98(17):95 87−9592.