-
1
-
-
36448996703
-
Breast cancer risk associated with BRCA1 and BRCA2 in diverse populations
-
Fackenthal J.D., Olopade O.I. Breast cancer risk associated with BRCA1 and BRCA2 in diverse populations. Nat. Rev. Cancer 2007, 7:937-948.
-
(2007)
Nat. Rev. Cancer
, vol.7
, pp. 937-948
-
-
Fackenthal, J.D.1
Olopade, O.I.2
-
2
-
-
33846850422
-
Ten genes for inherited breast cancer
-
Walsh T., King M.C. Ten genes for inherited breast cancer. Cancer Cell 2007, 11:103-105.
-
(2007)
Cancer Cell
, vol.11
, pp. 103-105
-
-
Walsh, T.1
King, M.C.2
-
3
-
-
35748929114
-
Founder mutations in BRCA1 and BRCA2 genes
-
Ferla R., Calò V., Cascio S., Rinaldi G., Badalamenti G., Carreca I., Surmacz E., Colucci G., Bazan V., Russo A. Founder mutations in BRCA1 and BRCA2 genes. Ann. Oncol. 2007, 18(Suppl. 6):vi93-vi98.
-
(2007)
Ann. Oncol.
, vol.18
, Issue.SUPPL. 6
-
-
Ferla, R.1
Calò, V.2
Cascio, S.3
Rinaldi, G.4
Badalamenti, G.5
Carreca, I.6
Surmacz, E.7
Colucci, G.8
Bazan, V.9
Russo, A.10
-
4
-
-
0033939978
-
Founder mutations in the BRCA1 gene in Polish families with breast-ovarian cancer
-
Górski B., Byrski T., Huzarski T., Jakubowska A., Menkiszak J., Gronwald J., Pluzańska A., Bebenek M., Fischer-Maliszewska L., Grzybowska E., Narod S.A., Lubiński J. Founder mutations in the BRCA1 gene in Polish families with breast-ovarian cancer. Am. J. Hum. Genet. 2000, 66:1963-1968.
-
(2000)
Am. J. Hum. Genet.
, vol.66
, pp. 1963-1968
-
-
Górski, B.1
Byrski, T.2
Huzarski, T.3
Jakubowska, A.4
Menkiszak, J.5
Gronwald, J.6
Pluzańska, A.7
Bebenek, M.8
Fischer-Maliszewska, L.9
Grzybowska, E.10
Narod, S.A.11
Lubiński, J.12
-
5
-
-
0035692235
-
Founder mutations in the BRCA1 gene in west Belarusian breast-ovarian cancer families
-
Oszurek O., Gorski B., Gronwald J., Prosolow Z., Uglanica K., Murinow A., Bobko I., Downar O., Zlobicz M., Norik D., Byrski T., Jakubowska A., Lubinski J. Founder mutations in the BRCA1 gene in west Belarusian breast-ovarian cancer families. Clin. Genet. 2001, 60:470-471.
-
(2001)
Clin. Genet.
, vol.60
, pp. 470-471
-
-
Oszurek, O.1
Gorski, B.2
Gronwald, J.3
Prosolow, Z.4
Uglanica, K.5
Murinow, A.6
Bobko, I.7
Downar, O.8
Zlobicz, M.9
Norik, D.10
Byrski, T.11
Jakubowska, A.12
Lubinski, J.13
-
6
-
-
22044445244
-
Association of two mutations in the CHEK2 gene with breast cancer
-
Bogdanova N., Enssen-Dubrowinskaja N., Feshchenko S., Lazjuk G.I., Rogov Y.I., Dammann O., Bremer M., Karstens J.H., Sohn C., Dörk T. Association of two mutations in the CHEK2 gene with breast cancer. Int. J. Cancer 2005, 116:263-266.
-
(2005)
Int. J. Cancer
, vol.116
, pp. 263-266
-
-
Bogdanova, N.1
Enssen-Dubrowinskaja, N.2
Feshchenko, S.3
Lazjuk, G.I.4
Rogov, Y.I.5
Dammann, O.6
Bremer, M.7
Karstens, J.H.8
Sohn, C.9
Dörk, T.10
-
7
-
-
20044366887
-
NBS1 657del5 mutation may contribute only to a limited fraction of breast cancer cases in Russia
-
Buslov K.G., Iyevleva A.G., Chekmariova E.V., Suspitsin E.N., Togo A.V., Kuligina E.Sh., Sokolenko A.P., Matsko D.E., Turkevich E.A., Lazareva Y.R., Chagunava O.L., Bit-Sava E.M., Semiglazov V.F., Devilee P., Cornelisse C., Hanson K.P., Imyanitov E.N. NBS1 657del5 mutation may contribute only to a limited fraction of breast cancer cases in Russia. Int. J. Cancer 2005, 114:585-589.
-
(2005)
Int. J. Cancer
, vol.114
, pp. 585-589
-
-
Buslov, K.G.1
Iyevleva, A.G.2
Chekmariova, E.V.3
Suspitsin, E.N.4
Togo, A.V.5
Kuligina, E.6
Sokolenko, A.P.7
Matsko, D.E.8
Turkevich, E.A.9
Lazareva, Y.R.10
Chagunava, O.L.11
Bit-Sava, E.M.12
Semiglazov, V.F.13
Devilee, P.14
Cornelisse, C.15
Hanson, K.P.16
Imyanitov, E.N.17
-
8
-
-
21044452905
-
Breast cancer predisposing alleles in Poland
-
Górski B., Cybulski C., Huzarski T., Byrski T., Gronwald J., Jakubowska A., Stawicka M., Gozdecka-Grodecka S., Szwiec M., Urbański K., Mituś J., Marczyk E., Dziuba J., Wandzel P., Surdyka D., Haus O., Janiszewska H., Debniak T., Tołoczko-Grabarek A., Medrek K., Masojć B., Mierzejewski M., Kowalska E., Narod S.A., Lubiński J. Breast cancer predisposing alleles in Poland. Breast Cancer Res. Treat. 2005, 92:19-24.
-
(2005)
Breast Cancer Res. Treat.
, vol.92
, pp. 19-24
-
-
Górski, B.1
Cybulski, C.2
Huzarski, T.3
Byrski, T.4
Gronwald, J.5
Jakubowska, A.6
Stawicka, M.7
Gozdecka-Grodecka, S.8
Szwiec, M.9
Urbański, K.10
Mituś, J.11
Marczyk, E.12
Dziuba, J.13
Wandzel, P.14
Surdyka, D.15
Haus, O.16
Janiszewska, H.17
Debniak, T.18
Tołoczko-Grabarek, A.19
Medrek, K.20
Masojć, B.21
Mierzejewski, M.22
Kowalska, E.23
Narod, S.A.24
Lubiński, J.25
more..
-
9
-
-
34247509016
-
CHEK2 1100delC mutation is frequent among Russian breast cancer patients
-
Chekmariova E.V., Sokolenko A.P., Buslov K.G., Iyevleva A.G., Ulibina Y.M., Rozanov M.E., Mitiushkina N.V., Togo A.V., Matsko D.E., Voskresenskiy D.A., Chagunava O.L., Devilee P., Cornelisse C., Semiglazov V.F., Imyanitov E.N. CHEK2 1100delC mutation is frequent among Russian breast cancer patients. Breast Cancer Res. Treat. 2006, 100:99-102.
-
(2006)
Breast Cancer Res. Treat.
, vol.100
, pp. 99-102
-
-
Chekmariova, E.V.1
Sokolenko, A.P.2
Buslov, K.G.3
Iyevleva, A.G.4
Ulibina, Y.M.5
Rozanov, M.E.6
Mitiushkina, N.V.7
Togo, A.V.8
Matsko, D.E.9
Voskresenskiy, D.A.10
Chagunava, O.L.11
Devilee, P.12
Cornelisse, C.13
Semiglazov, V.F.14
Imyanitov, E.N.15
-
10
-
-
34547442363
-
Founder mutations in early-onset, familial and bilateral breast cancer patients from Russia
-
Sokolenko A.P., Rozanov M.E., Mitiushkina N.V., Sherina N.Y., Iyevleva A.G., Chekmariova E.V., Buslov K.G., Shilov E.S., Togo A.V., Bit-Sava E.M., Voskresenskiy D.A., Chagunava O.L., Devilee P., Cornelisse C., Semiglazov V.F., Imyanitov E.N. Founder mutations in early-onset, familial and bilateral breast cancer patients from Russia. Fam. Cancer 2007, 6:281-286.
-
(2007)
Fam. Cancer
, vol.6
, pp. 281-286
-
-
Sokolenko, A.P.1
Rozanov, M.E.2
Mitiushkina, N.V.3
Sherina, N.Y.4
Iyevleva, A.G.5
Chekmariova, E.V.6
Buslov, K.G.7
Shilov, E.S.8
Togo, A.V.9
Bit-Sava, E.M.10
Voskresenskiy, D.A.11
Chagunava, O.L.12
Devilee, P.13
Cornelisse, C.14
Semiglazov, V.F.15
Imyanitov, E.N.16
-
11
-
-
38349052915
-
Nijmegen breakage syndrome mutations and risk of breast cancer
-
Bogdanova N., Feshchenko S., Schürmann P., Waltes R., Wieland B., Hillemanns P., Rogov Y.I., Dammann O., Bremer M., Karstens J.H., Sohn C., Varon R., Dörk T. Nijmegen breakage syndrome mutations and risk of breast cancer. Int. J. Cancer 2008, 122:802-806.
-
(2008)
Int. J. Cancer
, vol.122
, pp. 802-806
-
-
Bogdanova, N.1
Feshchenko, S.2
Schürmann, P.3
Waltes, R.4
Wieland, B.5
Hillemanns, P.6
Rogov, Y.I.7
Dammann, O.8
Bremer, M.9
Karstens, J.H.10
Sohn, C.11
Varon, R.12
Dörk, T.13
-
12
-
-
66349115872
-
Diagnostic guidelines for high-resolution melting curve (HRM) analysis: an interlaboratory validation of BRCA1 mutation scanning using the 96-well LightScanner
-
van der Stoep N., van Paridon C.D., Janssens T., Krenkova P., Stambergova A., Macek M., Matthijs G., Bakker E. Diagnostic guidelines for high-resolution melting curve (HRM) analysis: an interlaboratory validation of BRCA1 mutation scanning using the 96-well LightScanner. Hum. Mutat. 2009, 30:899-909.
-
(2009)
Hum. Mutat.
, vol.30
, pp. 899-909
-
-
van der Stoep, N.1
van Paridon, C.D.2
Janssens, T.3
Krenkova, P.4
Stambergova, A.5
Macek, M.6
Matthijs, G.7
Bakker, E.8
-
13
-
-
43449112349
-
Prolonged survival among women with BRCA germline mutations and advanced endometrial cancer: a case series
-
Kwon J.S., Lenehan J., Carey M., Ainsworth P. Prolonged survival among women with BRCA germline mutations and advanced endometrial cancer: a case series. Int. J. Gynecol. Cancer 2008, 18:546-549.
-
(2008)
Int. J. Gynecol. Cancer
, vol.18
, pp. 546-549
-
-
Kwon, J.S.1
Lenehan, J.2
Carey, M.3
Ainsworth, P.4
-
14
-
-
0034787613
-
Japanese familial ovarian cancer study group, mutational analysis of BRCA1 and BRCA2 and clinicopathologic analysis of ovarian cancer in 82 ovarian cancer families: two common founder mutations of BRCA1 in Japanese population
-
Sekine M., Nagata H., Tsuji S., Hirai Y., Fujimoto S., Hatae M., Kobayashi I., Fujii T., Nagata I., Ushijima K., Obata K., Suzuki M., Yoshinaga M., Umesaki N., Satoh S., Enomoto T., Motoyama S., Tanaka K. Japanese familial ovarian cancer study group, mutational analysis of BRCA1 and BRCA2 and clinicopathologic analysis of ovarian cancer in 82 ovarian cancer families: two common founder mutations of BRCA1 in Japanese population. Clin. Cancer Res. 2001, 7:3144-3150.
-
(2001)
Clin. Cancer Res.
, vol.7
, pp. 3144-3150
-
-
Sekine, M.1
Nagata, H.2
Tsuji, S.3
Hirai, Y.4
Fujimoto, S.5
Hatae, M.6
Kobayashi, I.7
Fujii, T.8
Nagata, I.9
Ushijima, K.10
Obata, K.11
Suzuki, M.12
Yoshinaga, M.13
Umesaki, N.14
Satoh, S.15
Enomoto, T.16
Motoyama, S.17
Tanaka, K.18
-
15
-
-
33845734986
-
BRCA1 and BRCA2 germline mutations in Korean breast cancer patients at high risk of carrying mutations
-
Ahn S.H., Son B.H., Yoon K.S., Noh D.Y., Han W., Kim S.W., Lee E.S., Park H.L., Hong Y.J., Choi J.J., Moon S.Y., Kim M.J., Kim K.H., Kwak B.S., Cho D.Y. BRCA1 and BRCA2 germline mutations in Korean breast cancer patients at high risk of carrying mutations. Cancer Lett. 2007, 245:90-95.
-
(2007)
Cancer Lett.
, vol.245
, pp. 90-95
-
-
Ahn, S.H.1
Son, B.H.2
Yoon, K.S.3
Noh, D.Y.4
Han, W.5
Kim, S.W.6
Lee, E.S.7
Park, H.L.8
Hong, Y.J.9
Choi, J.J.10
Moon, S.Y.11
Kim, M.J.12
Kim, K.H.13
Kwak, B.S.14
Cho, D.Y.15
-
16
-
-
0031000719
-
Frequently occurring germ-line mutations of the BRCA1 gene in ovarian cancer families from Russia
-
Gayther S.A., Harrington P., Russell P., Kharkevich G., Garkavtseva R.F., Ponder B.A. Frequently occurring germ-line mutations of the BRCA1 gene in ovarian cancer families from Russia. Am. J. Hum. Genet. 1997, 60:1239-1242.
-
(1997)
Am. J. Hum. Genet.
, vol.60
, pp. 1239-1242
-
-
Gayther, S.A.1
Harrington, P.2
Russell, P.3
Kharkevich, G.4
Garkavtseva, R.F.5
Ponder, B.A.6
-
17
-
-
17744413865
-
Characterization of 2 novel and 2 recurring BRCA1 germline mutations in breast and/or ovarian carcinoma patients from the area of Naples
-
Curci A., Capasso I., Romano A., Bruni P., Motti M.L., Pignata S., D'Aiuto G., Casamassimi A., D'Urso M., Fusco A., Viglietto G. Characterization of 2 novel and 2 recurring BRCA1 germline mutations in breast and/or ovarian carcinoma patients from the area of Naples. Int. J. Oncol. 2002, 20:963-970.
-
(2002)
Int. J. Oncol.
, vol.20
, pp. 963-970
-
-
Curci, A.1
Capasso, I.2
Romano, A.3
Bruni, P.4
Motti, M.L.5
Pignata, S.6
D'Aiuto, G.7
Casamassimi, A.8
D'Urso, M.9
Fusco, A.10
Viglietto, G.11
-
18
-
-
2142746426
-
Mutational analysis of BRCA1 and BRCA2 in Mediterranean Spanish women with early-onset breast cancer: identification of three novel pathogenic mutations
-
Martínez-Ferrandis J.I., Vega A., Chirivella I., Marín-García P., Insa A., Lluch A., Carracedo A., Chaves F.J., García-Conde J., Cervantes A., Armengod M.E. Mutational analysis of BRCA1 and BRCA2 in Mediterranean Spanish women with early-onset breast cancer: identification of three novel pathogenic mutations. Hum. Mutat. 2003, 22:417-418.
-
(2003)
Hum. Mutat.
, vol.22
, pp. 417-418
-
-
Martínez-Ferrandis, J.I.1
Vega, A.2
Chirivella, I.3
Marín-García, P.4
Insa, A.5
Lluch, A.6
Carracedo, A.7
Chaves, F.J.8
García-Conde, J.9
Cervantes, A.10
Armengod, M.E.11
-
19
-
-
26844544418
-
Genetic testing in an ethnically diverse cohort of high-risk women: a comparative analysis of BRCA1 and BRCA2 mutations in American families of European and African ancestry
-
Nanda R., Schumm L.P., Cummings S., Fackenthal J.D., Sveen L., Ademuyiwa F., Cobleigh M., Esserman L., Lindor N.M., Neuhausen S.L., Olopade O.I. Genetic testing in an ethnically diverse cohort of high-risk women: a comparative analysis of BRCA1 and BRCA2 mutations in American families of European and African ancestry. JAMA 2005, 294:1925-1933.
-
(2005)
JAMA
, vol.294
, pp. 1925-1933
-
-
Nanda, R.1
Schumm, L.P.2
Cummings, S.3
Fackenthal, J.D.4
Sveen, L.5
Ademuyiwa, F.6
Cobleigh, M.7
Esserman, L.8
Lindor, N.M.9
Neuhausen, S.L.10
Olopade, O.I.11
-
20
-
-
0142093087
-
Twenty-three novel BRCA1 and BRCA2 sequence alterations in breast and/or ovarian cancer families in Southern Germany
-
Meyer P., Voigtlaender T., Bartram C.R., Klaes R. Twenty-three novel BRCA1 and BRCA2 sequence alterations in breast and/or ovarian cancer families in Southern Germany. Hum. Mutat. 2003, 22:259.
-
(2003)
Hum. Mutat.
, vol.22
, pp. 259
-
-
Meyer, P.1
Voigtlaender, T.2
Bartram, C.R.3
Klaes, R.4
-
21
-
-
0031832541
-
Sequence analysis of BRCA1 and BRCA2: correlation of mutations with family history and ovarian cancer risk
-
Frank T.S., Manley S.A., Olopade O.I., Cummings S., Garber J.E., Bernhardt B., Antman K., Russo D., Wood M.E., Mullineau L., Isaacs C., Peshkin B., Buys S., Venne V., Rowley P.T., Loader S., Offit K., Robson M., Hampel H., Brener D., Winer E.P., Clark S., Weber B., Strong L.C., Rieger P., McClure M., Ward B.E., Shattuck-Eidens D., Oliphant A., Skolnick M.H., Thomas A. Sequence analysis of BRCA1 and BRCA2: correlation of mutations with family history and ovarian cancer risk. J. Clin. Oncol. 1998, 16:2417-2425.
-
(1998)
J. Clin. Oncol.
, vol.16
, pp. 2417-2425
-
-
Frank, T.S.1
Manley, S.A.2
Olopade, O.I.3
Cummings, S.4
Garber, J.E.5
Bernhardt, B.6
Antman, K.7
Russo, D.8
Wood, M.E.9
Mullineau, L.10
Isaacs, C.11
Peshkin, B.12
Buys, S.13
Venne, V.14
Rowley, P.T.15
Loader, S.16
Offit, K.17
Robson, M.18
Hampel, H.19
Brener, D.20
Winer, E.P.21
Clark, S.22
Weber, B.23
Strong, L.C.24
Rieger, P.25
McClure, M.26
Ward, B.E.27
Shattuck-Eidens, D.28
Oliphant, A.29
Skolnick, M.H.30
Thomas, A.31
more..
-
22
-
-
34250217042
-
Association of the BRCA1 missense variant R1699W with a malignant phyllodes tumor of the breast
-
Rhiem K., Flucke U., Engel C., Wappenschmidt B., Reinecke-Lüthge A., Büttner R., Schmutzler R.K. Association of the BRCA1 missense variant R1699W with a malignant phyllodes tumor of the breast. Cancer Genet. Cytogene. 2007, 176:76-79.
-
(2007)
Cancer Genet. Cytogene.
, vol.176
, pp. 76-79
-
-
Rhiem, K.1
Flucke, U.2
Engel, C.3
Wappenschmidt, B.4
Reinecke-Lüthge, A.5
Büttner, R.6
Schmutzler, R.K.7
-
23
-
-
1642554820
-
One in 10 ovarian cancer patients carry germ line BRCA1 or BRCA2 mutations: results of a prospective study in Southern Sweden
-
Malander S., Ridderheim M., Måsbäck A., Loman N., Kristoffersson U., Olsson H., Nilbert M., Borg A. One in 10 ovarian cancer patients carry germ line BRCA1 or BRCA2 mutations: results of a prospective study in Southern Sweden. Eur. J. Cancer 2004, 40:422-428.
-
(2004)
Eur. J. Cancer
, vol.40
, pp. 422-428
-
-
Malander, S.1
Ridderheim, M.2
Måsbäck, A.3
Loman, N.4
Kristoffersson, U.5
Olsson, H.6
Nilbert, M.7
Borg, A.8
-
24
-
-
0037052688
-
Loss of heterozygosity analysis at the BRCA loci in tumor samples from patients with familial breast cancer
-
Osorio A., de la Hoya M., Rodríguez-López R., Martínez-Ramírez A., Cazorla A., Granizo J.J., Esteller M., Rivas C., Caldés T., Benítez J. Loss of heterozygosity analysis at the BRCA loci in tumor samples from patients with familial breast cancer. Int. J. Cancer 2002, 99:305-309.
-
(2002)
Int. J. Cancer
, vol.99
, pp. 305-309
-
-
Osorio, A.1
de la Hoya, M.2
Rodríguez-López, R.3
Martínez-Ramírez, A.4
Cazorla, A.5
Granizo, J.J.6
Esteller, M.7
Rivas, C.8
Caldés, T.9
Benítez, J.10
-
25
-
-
0031687968
-
A high proportion of mutations in the BRCA1 gene in German breast/ovarian cancer families with clustering of mutations in the 3' third of the gene
-
Dong J., Chang-Claude J., Wu Y., Schumacher V., Debatin I., Tonin P., Royer-Pokora B. A high proportion of mutations in the BRCA1 gene in German breast/ovarian cancer families with clustering of mutations in the 3' third of the gene. Hum. Genet. 1998, 103:154-161.
-
(1998)
Hum. Genet.
, vol.103
, pp. 154-161
-
-
Dong, J.1
Chang-Claude, J.2
Wu, Y.3
Schumacher, V.4
Debatin, I.5
Tonin, P.6
Royer-Pokora, B.7
-
26
-
-
33751583981
-
Prevalence of BRCA1 and BRCA2 mutations in Pakistani breast and ovarian cancer patients
-
Rashid M.U., Zaidi A., Torres D., Sultan F., Benner A., Naqvi B., Shakoori A.R., Seidel-Renkert A., Farooq H., Narod S., Amin A., Hamann U. Prevalence of BRCA1 and BRCA2 mutations in Pakistani breast and ovarian cancer patients. Int. J. Cancer 2006, 119:2832-2839.
-
(2006)
Int. J. Cancer
, vol.119
, pp. 2832-2839
-
-
Rashid, M.U.1
Zaidi, A.2
Torres, D.3
Sultan, F.4
Benner, A.5
Naqvi, B.6
Shakoori, A.R.7
Seidel-Renkert, A.8
Farooq, H.9
Narod, S.10
Amin, A.11
Hamann, U.12
-
27
-
-
0036533601
-
BRCA1 and BRCA2 mutations among breast cancer patients from the Philippines
-
De Leon Matsuda M.L., Liede A., Kwan E., Mapua C.A., Cutiongco E.M., Tan A., Borg A., Narod S.A. BRCA1 and BRCA2 mutations among breast cancer patients from the Philippines. Int. J. Cancer 2002, 98:596-603.
-
(2002)
Int. J. Cancer
, vol.98
, pp. 596-603
-
-
De Leon Matsuda, M.L.1
Liede, A.2
Kwan, E.3
Mapua, C.A.4
Cutiongco, E.M.5
Tan, A.6
Borg, A.7
Narod, S.A.8
-
28
-
-
34347223992
-
High occurrence of BRCA1 intragenic rearrangements in hereditary breast and ovarian cancer syndrome in the Czech Republic
-
Vasickova P., Machackova E., Lukesova M., Damborsky J., Horky O., Pavlu H., Kuklova J., Kosinova V., Navratilova M., Foretova L. High occurrence of BRCA1 intragenic rearrangements in hereditary breast and ovarian cancer syndrome in the Czech Republic. BMC Med. Genet. 2007, 8:32.
-
(2007)
BMC Med. Genet.
, vol.8
, pp. 32
-
-
Vasickova, P.1
Machackova, E.2
Lukesova, M.3
Damborsky, J.4
Horky, O.5
Pavlu, H.6
Kuklova, J.7
Kosinova, V.8
Navratilova, M.9
Foretova, L.10
-
29
-
-
28744446802
-
Large BRCA1 gene deletions are found in 3% of German high-risk breast cancer families
-
Hartmann C., John A.L., Klaes R., Hofmann W., Bielen R., Koehler R., Janssen B., Bartram C.R., Arnold N., Zschocke J. Large BRCA1 gene deletions are found in 3% of German high-risk breast cancer families. Hum. Mutat. 2004, 24:534.
-
(2004)
Hum. Mutat.
, vol.24
, pp. 534
-
-
Hartmann, C.1
John, A.L.2
Klaes, R.3
Hofmann, W.4
Bielen, R.5
Koehler, R.6
Janssen, B.7
Bartram, C.R.8
Arnold, N.9
Zschocke, J.10
-
30
-
-
35748932960
-
High prevalence of BRCA1 deletions in BRCAPRO-positive patients with high carrier probability
-
Veschi S., Aceto G., Scioletti A.P., Gatta V., Palka G., Cama A., Mariani-Costantini R., Battista P., Calò V., Barbera F., Bazan V., Russo A., Stuppia L. High prevalence of BRCA1 deletions in BRCAPRO-positive patients with high carrier probability. Ann. Oncol. 2007, 18(Suppl. 6):vi86-vi92.
-
(2007)
Ann. Oncol.
, vol.18
, Issue.SUPPL. 6
-
-
Veschi, S.1
Aceto, G.2
Scioletti, A.P.3
Gatta, V.4
Palka, G.5
Cama, A.6
Mariani-Costantini, R.7
Battista, P.8
Calò, V.9
Barbera, F.10
Bazan, V.11
Russo, A.12
Stuppia, L.13
-
31
-
-
38749123478
-
BRCA1 and BRCA2 point mutations and large rearrangements in breast and ovarian cancer families in Northern Poland
-
Ratajska M., Brozek I., Senkus-Konefka E., Jassem J., Stepnowska M., Palomba G., Pisano M., Casula M., Palmieri G., Borg A., Limon J. BRCA1 and BRCA2 point mutations and large rearrangements in breast and ovarian cancer families in Northern Poland. Oncol. Rep. 2008, 19:263-268.
-
(2008)
Oncol. Rep.
, vol.19
, pp. 263-268
-
-
Ratajska, M.1
Brozek, I.2
Senkus-Konefka, E.3
Jassem, J.4
Stepnowska, M.5
Palomba, G.6
Pisano, M.7
Casula, M.8
Palmieri, G.9
Borg, A.10
Limon, J.11
-
32
-
-
33845540070
-
Low prevalence of BRCA1 exon rearrangements in familial and young sporadic breast cancer patients
-
Ellis D., Patel Y., Yau S.C., Hodgson S.V., Abbs S.J. Low prevalence of BRCA1 exon rearrangements in familial and young sporadic breast cancer patients. Fam. Cancer 2006, 5:323-326.
-
(2006)
Fam. Cancer
, vol.5
, pp. 323-326
-
-
Ellis, D.1
Patel, Y.2
Yau, S.C.3
Hodgson, S.V.4
Abbs, S.J.5
-
33
-
-
0034908554
-
Nomenclature for the description of human sequence variations
-
den Dunnen J.T., Antonarakis S.E. Nomenclature for the description of human sequence variations. Hum. Genet. 2001, 109:121-124.
-
(2001)
Hum. Genet.
, vol.109
, pp. 121-124
-
-
den Dunnen, J.T.1
Antonarakis, S.E.2
-
34
-
-
0036480203
-
BRCA1 and BRCA2 mutations in Russian familial breast cancer
-
Tereschenko I.V., Basham V.M., Ponder B.A., Pharoah P.D. BRCA1 and BRCA2 mutations in Russian familial breast cancer. Hum. Mutat. 2002, 19:184.
-
(2002)
Hum. Mutat.
, vol.19
, pp. 184
-
-
Tereschenko, I.V.1
Basham, V.M.2
Ponder, B.A.3
Pharoah, P.D.4
-
35
-
-
1842582775
-
Spectrum of mutations in BRCA1 gene in hereditary forms of breast and ovarian cancer in Russian families
-
Loginova A.N., Pospekhova N.I., Lyubchenko L.N., Budilov A.V., Zakhar'ev V.M., Gar'kavtseva R.F., Ginter E.K., Karpukhin A.V. Spectrum of mutations in BRCA1 gene in hereditary forms of breast and ovarian cancer in Russian families. Bull. Exp. Biol. Med. 2003, 136:276-278.
-
(2003)
Bull. Exp. Biol. Med.
, vol.136
, pp. 276-278
-
-
Loginova, A.N.1
Pospekhova, N.I.2
Lyubchenko, L.N.3
Budilov, A.V.4
Zakhar'ev, V.M.5
Gar'kavtseva, R.F.6
Ginter, E.K.7
Karpukhin, A.V.8
-
36
-
-
17844399272
-
Prevalence of widespread BRCA1 gene mutations in patients with familial breast cancer from St. Petersburg
-
Grudinina N.A., Golubkov V.I., Tikhomirova O.S., Brezhneva T.V., Hanson K.P., Vasilyev V.B., Mandelshtam M.Y. Prevalence of widespread BRCA1 gene mutations in patients with familial breast cancer from St. Petersburg. Russ. J. Genet. 2005, 41:318-322.
-
(2005)
Russ. J. Genet.
, vol.41
, pp. 318-322
-
-
Grudinina, N.A.1
Golubkov, V.I.2
Tikhomirova, O.S.3
Brezhneva, T.V.4
Hanson, K.P.5
Vasilyev, V.B.6
Mandelshtam, M.Y.7
-
37
-
-
36349014235
-
High incidence of mutations in BRCA1 and BRCA2 genes in ovarian cancer
-
Smirnova T.Y., Pospekhova N.I., Lyubchenko L.N., Tjulandin S.A., Gar'kavtseva R.F., Ginter E.K., Karpukhin A.V. High incidence of mutations in BRCA1 and BRCA2 genes in ovarian cancer. Bull. Exp. Biol. Med. 2007, 144:83-85.
-
(2007)
Bull. Exp. Biol. Med.
, vol.144
, pp. 83-85
-
-
Smirnova, T.Y.1
Pospekhova, N.I.2
Lyubchenko, L.N.3
Tjulandin, S.A.4
Gar'kavtseva, R.F.5
Ginter, E.K.6
Karpukhin, A.V.7
-
38
-
-
77957964296
-
-
Mixed epithelial/mesenchymal metaplastic carcinoma (carcinosarcoma) of the breast in BRCA1 carrier, Breast Cancer, in press.
-
E.N. Suspitsin, A.P. Sokolenko, D.A. Voskresenskiy, A.O. Ivantsov, K.V. Shelehova, V.F. Klimashevskiy, D.E. Matsko, V.F. Semiglazov, E.N. Imyanitov, Mixed epithelial/mesenchymal metaplastic carcinoma (carcinosarcoma) of the breast in BRCA1 carrier, Breast Cancer, in press.
-
-
-
Suspitsin, E.N.1
Sokolenko, A.P.2
Voskresenskiy, D.A.3
Ivantsov, A.O.4
Shelehova, K.V.5
Klimashevskiy, V.F.6
Matsko, D.E.7
Semiglazov, V.F.8
Imyanitov, E.N.9
-
39
-
-
0027960790
-
Loss of heterozygosity in familial tumors from three BRCA1-linked kindreds
-
Neuhausen S.L., Marshall C.J. Loss of heterozygosity in familial tumors from three BRCA1-linked kindreds. Cancer Res. 1994, 54:6069-6072.
-
(1994)
Cancer Res.
, vol.54
, pp. 6069-6072
-
-
Neuhausen, S.L.1
Marshall, C.J.2
-
40
-
-
33745144366
-
High frequency of BRCA1 5382insC mutation in Russian breast cancer patients
-
Sokolenko A.P., Mitiushkina N.V., Buslov K.G., Bit-Sava E.M., Iyevleva A.G., Chekmariova E.V., Kuligina E.Sh., Ulibina Y.M., Rozanov M.E., Suspitsin E.N., Matsko D.E., Chagunava O.L., Trofimov D.Y., Devilee P., Cornelisse C., Togo A.V., Semiglazov V.F., Imyanitov E.N. High frequency of BRCA1 5382insC mutation in Russian breast cancer patients. Eur. J. Cancer 2006, 42:1380-1384.
-
(2006)
Eur. J. Cancer
, vol.42
, pp. 1380-1384
-
-
Sokolenko, A.P.1
Mitiushkina, N.V.2
Buslov, K.G.3
Bit-Sava, E.M.4
Iyevleva, A.G.5
Chekmariova, E.V.6
Kuligina, E.7
Ulibina, Y.M.8
Rozanov, M.E.9
Suspitsin, E.N.10
Matsko, D.E.11
Chagunava, O.L.12
Trofimov, D.Y.13
Devilee, P.14
Cornelisse, C.15
Togo, A.V.16
Semiglazov, V.F.17
Imyanitov, E.N.18
-
41
-
-
34548580984
-
Heterogenic loss of BRCA in breast cancer: the " two-hit" hypothesis takes a hit
-
Meric-Bernstam F. Heterogenic loss of BRCA in breast cancer: the " two-hit" hypothesis takes a hit. Ann. Surg. Oncol. 2007, 14:2428-2429.
-
(2007)
Ann. Surg. Oncol.
, vol.14
, pp. 2428-2429
-
-
Meric-Bernstam, F.1
-
42
-
-
77957970651
-
-
LOH analysis should not be used as a tool to assess whether UVs of BRCA1/2 are pathogenic or not, Fam. Cancer, in press.
-
E. Beristain, I. Guerra, N. Vidaurrazaga, J. Burgos-Bretones, M.I. Tejada. LOH analysis should not be used as a tool to assess whether UVs of BRCA1/2 are pathogenic or not, Fam. Cancer, in press.
-
-
-
Beristain, E.1
Guerra, I.2
Vidaurrazaga, N.3
Burgos-Bretones, J.4
Tejada, M.I.5
-
43
-
-
3142699826
-
Analysis of missense variation in human BRCA1 in the context of interspecific sequence variation
-
Abkevich V., Zharkikh A., Deffenbaugh A.M., Frank D., Chen Y., Shattuck D., Skolnick M.H., Gutin A., Tavtigian S.V. Analysis of missense variation in human BRCA1 in the context of interspecific sequence variation. J. Med. Genet. 2004, 41:492-507.
-
(2004)
J. Med. Genet.
, vol.41
, pp. 492-507
-
-
Abkevich, V.1
Zharkikh, A.2
Deffenbaugh, A.M.3
Frank, D.4
Chen, Y.5
Shattuck, D.6
Skolnick, M.H.7
Gutin, A.8
Tavtigian, S.V.9
-
44
-
-
35348834779
-
A systematic genetic assessment of 1, 433 sequence variants of unknown clinical significance in the BRCA1 and BRCA2 breast cancer-predisposition genes
-
Easton D.F., Deffenbaugh A.M., Pruss D., Frye C., Wenstrup R.J., Allen-Brady K., Tavtigian S.V., Monteiro A.N., Iversen E.S., Couch F.J., Goldgar D.E. A systematic genetic assessment of 1, 433 sequence variants of unknown clinical significance in the BRCA1 and BRCA2 breast cancer-predisposition genes. Am. J. Hum. Genet. 2007, 81:873-883.
-
(2007)
Am. J. Hum. Genet.
, vol.81
, pp. 873-883
-
-
Easton, D.F.1
Deffenbaugh, A.M.2
Pruss, D.3
Frye, C.4
Wenstrup, R.J.5
Allen-Brady, K.6
Tavtigian, S.V.7
Monteiro, A.N.8
Iversen, E.S.9
Couch, F.J.10
Goldgar, D.E.11
-
45
-
-
67549099652
-
A method to assess the clinical significance of unclassified variants in the BRCA1 and BRCA2 genes based on cancer family history
-
Gómez García E.B., Oosterwijk J.C., Timmermans M., van Asperen C.J., Hogervorst F.B., Hoogerbrugge N., Oldenburg R., Verhoef S., Dommering C.J., Ausems M.G., van Os T.A., van der Hout A.H., Ligtenberg M., van den Ouweland A., van der Luijt R.B., Wijnen J.T., Gille J.J., Lindsey P.J., Devilee P., Blok M.J., Vreeswijk M.P. A method to assess the clinical significance of unclassified variants in the BRCA1 and BRCA2 genes based on cancer family history. Breast Cancer Res. 2009, 11:R8.
-
(2009)
Breast Cancer Res.
, vol.11
-
-
Gómez García, E.B.1
Oosterwijk, J.C.2
Timmermans, M.3
van Asperen, C.J.4
Hogervorst, F.B.5
Hoogerbrugge, N.6
Oldenburg, R.7
Verhoef, S.8
Dommering, C.J.9
Ausems, M.G.10
van Os, T.A.11
van der Hout, A.H.12
Ligtenberg, M.13
van den Ouweland, A.14
van der Luijt, R.B.15
Wijnen, J.T.16
Gille, J.J.17
Lindsey, P.J.18
Devilee, P.19
Blok, M.J.20
Vreeswijk, M.P.21
more..
-
46
-
-
2542543477
-
Structure-based assessment of missense mutations in human BRCA1: implications for breast and ovarian cancer predisposition
-
Mirkovic N., Marti-Renom M.A., Weber B.L., Sali A., Monteiro A.N. Structure-based assessment of missense mutations in human BRCA1: implications for breast and ovarian cancer predisposition. Cancer Res. 2004, 64:3790-3797.
-
(2004)
Cancer Res.
, vol.64
, pp. 3790-3797
-
-
Mirkovic, N.1
Marti-Renom, M.A.2
Weber, B.L.3
Sali, A.4
Monteiro, A.N.5
-
47
-
-
33847314487
-
Determination of cancer risk associated with germ line BRCA1 missense variants by functional analysis
-
Carvalho M.A., Marsillac S.M., Karchin R., Manoukian S., Grist S., Swaby R.F., Urmenyi T.P., Rondinelli E., Silva R., Gayol L., Baumbach L., Sutphen R., Pickard-Brzosowicz J.L., Nathanson K.L., Sali A., Goldgar D., Couch F.J., Radice P., Monteiro A.N. Determination of cancer risk associated with germ line BRCA1 missense variants by functional analysis. Cancer Res. 2007, 67:1494-1501.
-
(2007)
Cancer Res.
, vol.67
, pp. 1494-1501
-
-
Carvalho, M.A.1
Marsillac, S.M.2
Karchin, R.3
Manoukian, S.4
Grist, S.5
Swaby, R.F.6
Urmenyi, T.P.7
Rondinelli, E.8
Silva, R.9
Gayol, L.10
Baumbach, L.11
Sutphen, R.12
Pickard-Brzosowicz, J.L.13
Nathanson, K.L.14
Sali, A.15
Goldgar, D.16
Couch, F.J.17
Radice, P.18
Monteiro, A.N.19
-
48
-
-
67349284098
-
Response to neoadjuvant therapy with cisplatin in BRCA1-positive breast cancer patients
-
Byrski T., Huzarski T., Dent R., Gronwald J., Zuziak D., Cybulski C., Kladny J., Gorski B., Lubinski J., Narod S.A. Response to neoadjuvant therapy with cisplatin in BRCA1-positive breast cancer patients. Breast Cancer Res. Treat. 2009, 115:359-363.
-
(2009)
Breast Cancer Res. Treat.
, vol.115
, pp. 359-363
-
-
Byrski, T.1
Huzarski, T.2
Dent, R.3
Gronwald, J.4
Zuziak, D.5
Cybulski, C.6
Kladny, J.7
Gorski, B.8
Lubinski, J.9
Narod, S.A.10
-
49
-
-
74749092179
-
High sensitivity of BRCA1-associated tumors to cisplatin monotherapy: report of 2 cases
-
Moiseyenko V.M., Protsenko S.A., Brezhnev N.V., Maximov S.Ya., Gershveld E.D., Hudyakova M.A., Lobeiko O.S., Gergova M.M., Krzhivitskiy P.I., Semionov I.I., Matsko D.E., Iyevleva A.G., Sokolenko A.P., Sherina N.Yu., Kuligina E.Sh., Suspitsin E.N., Togo A.V., Imyanitov E.N. High sensitivity of BRCA1-associated tumors to cisplatin monotherapy: report of 2 cases. Cancer Genet. Cytogenet. 2010, 197:91-94.
-
(2010)
Cancer Genet. Cytogenet.
, vol.197
, pp. 91-94
-
-
Moiseyenko, V.M.1
Protsenko, S.A.2
Brezhnev, N.V.3
Maximov, S.4
Gershveld, E.D.5
Hudyakova, M.A.6
Lobeiko, O.S.7
Gergova, M.M.8
Krzhivitskiy, P.I.9
Semionov, I.I.10
Matsko, D.E.11
Iyevleva, A.G.12
Sokolenko, A.P.13
Sherina, N.14
Kuligina, E.15
Suspitsin, E.N.16
Togo, A.V.17
Imyanitov, E.N.18
-
50
-
-
67650471685
-
Inhibition of poly(ADP-ribose) polymerase in tumors from BRCA mutation carriers
-
Fong P.C., Boss D.S., Yap T.A., Tutt A., Wu P., Mergui-Roelvink M., Mortimer P., Swaisland H., Lau A., O'Connor M.J., Ashworth A., Carmichael J., Kaye S.B., Schellens J.H., de Bono J.S. Inhibition of poly(ADP-ribose) polymerase in tumors from BRCA mutation carriers. N. Engl. J. Med. 2009, 361:123-134.
-
(2009)
N. Engl. J. Med.
, vol.361
, pp. 123-134
-
-
Fong, P.C.1
Boss, D.S.2
Yap, T.A.3
Tutt, A.4
Wu, P.5
Mergui-Roelvink, M.6
Mortimer, P.7
Swaisland, H.8
Lau, A.9
O'Connor, M.J.10
Ashworth, A.11
Carmichael, J.12
Kaye, S.B.13
Schellens, J.H.14
de Bono, J.S.15
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