-
1
-
-
0028113345
-
A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1
-
Miki Y, Swensen J, Shattuck-Eidens D, Futreal PA, Harshman K, Tavtigian S, Liu Q, Cochran C, Bennett LM, Ding W, et. A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1. Science. 1994; 266:66-71.
-
(1994)
Science
, vol.266
, pp. 66-71
-
-
Miki, Y.1
Swensen, J.2
Shattuck-Eidens, D.3
Futreal, P.A.4
Harshman, K.5
Tavtigian, S.6
Liu, Q.7
Cochran, C.8
Bennett, L.M.9
Ding, W.10
-
2
-
-
0006713602
-
Identification of the breast cancer susceptibility gene BRCA2
-
Wooster R, Bignell G, Lancaster J, Swift S, Seal S, Mangion J, Collins N, Gregory S, Gumbs C, Micklem G, Barfoot R, Hamoudi R, Patel S, et al. Identification of the breast cancer susceptibility gene BRCA2. Nature. 1995; 378:789-92.
-
(1995)
Nature
, vol.378
, pp. 789-792
-
-
Wooster, R.1
Bignell, G.2
Lancaster, J.3
Swift, S.4
Seal, S.5
Mangion, J.6
Collins, N.7
Gregory, S.8
Gumbs, C.9
Micklem, G.10
Barfoot, R.11
Hamoudi, R.12
Patel, S.13
-
3
-
-
36448996703
-
Breast cancer risk associated with BRCA1 and BRCA2 in diverse populations
-
Fackenthal JD, Olopade OI. Breast cancer risk associated with BRCA1 and BRCA2 in diverse populations. Nat Rev Cancer. 2007; 7:937-48.
-
(2007)
Nat Rev Cancer
, vol.7
, pp. 937-948
-
-
Fackenthal, J.D.1
Olopade, O.I.2
-
4
-
-
33646492478
-
BRCA1 and BRCA2 mutations in a South American population
-
Jara L, Ampuero S, Santibáñez E, Seccia L, Rodríguez J, Bustamante M, Martínez V, Catenaccio A, Lay-Son G, Blanco R, Reyes JM. BRCA1 and BRCA2 mutations in a South American population. Cancer Genet Cytogenet. 2006; 166:36-45.
-
(2006)
Cancer Genet Cytogenet
, vol.166
, pp. 36-45
-
-
Jara, L.1
Ampuero, S.2
Santibáñez, E.3
Seccia, L.4
Rodríguez, J.5
Bustamante, M.6
Martínez, V.7
Catenaccio, A.8
Lay-Son, G.9
Blanco, R.10
Reyes, J.M.11
-
5
-
-
32444447811
-
Incidence of BRCA1 and BRCA2 mutations in 54 Chilean families with breast/ovarian cancer, genotype-phenotype correlations
-
Gallardo M, Silva A, Rubio L, Alvarez C, Torrealba C, Salinas M, Tapia T, Faundez P, Palma L, Riccio ME, Paredes H, Rodriguez M, Cruz A, et al. Incidence of BRCA1 and BRCA2 mutations in 54 Chilean families with breast/ovarian cancer, genotype-phenotype correlations. Breast Cancer Res Treat. 2006; 95:81-87.
-
(2006)
Breast Cancer Res Treat
, vol.95
, pp. 81-87
-
-
Gallardo, M.1
Silva, A.2
Rubio, L.3
Alvarez, C.4
Torrealba, C.5
Salinas, M.6
Tapia, T.7
Faundez, P.8
Palma, L.9
Riccio, M.E.10
Paredes, H.11
Rodriguez, M.12
Cruz, A.13
-
6
-
-
18544397294
-
BRCA1 and BRCA2 mutation analysis of early-onset and familial breast cancer cases in Mexico
-
Ruiz-Flores P, Sinilnikova OM, Badzioch M, Calderon-Garcidueñas AL, Chopin S, Fabrice O, González-Guerrero JF, Szabo C, Lenoir G, Goldgar DE, Barrera-Saldaña HA. BRCA1 and BRCA2 mutation analysis of early-onset and familial breast cancer cases in Mexico. Hum Mutat. 2002; 20:474-75.
-
(2002)
Hum Mutat
, vol.20
, pp. 474-475
-
-
Ruiz-Flores, P.1
Sinilnikova, O.M.2
Badzioch, M.3
Calderon-Garcidueñas, A.L.4
Chopin, S.5
Fabrice, O.6
González-Guerrero, J.F.7
Szabo, C.8
Lenoir, G.9
Goldgar, D.E.10
Barrera-Saldaña, H.A.11
-
7
-
-
34249040579
-
High proportion of BRCA1/2 founder mutations in Hispanic breast/ovarian cancer families from Colombia
-
Torres D, Rashid MU, Gil F, Umana A, Ramelli G, Robledo JF, Tawil M, Torregrosa L, Briceno I, Hamann U. High proportion of BRCA1/2 founder mutations in Hispanic breast/ovarian cancer families from Colombia. Breast Cancer Res Treat. 2007; 103:225-32.
-
(2007)
Breast Cancer Res Treat
, vol.103
, pp. 225-232
-
-
Torres, D.1
Rashid, M.U.2
Gil, F.3
Umana, A.4
Ramelli, G.5
Robledo, J.F.6
Tawil, M.7
Torregrosa, L.8
Briceno, I.9
Hamann, U.10
-
8
-
-
34250664312
-
Prevalence of BRCA1 and BRCA2 mutations in breast cancer patients from Brazil
-
Gomes MC, Costa MM, Borojevic R, Monteiro AN, Vieira R, Koifman S, Koifman RJ, Li S, Royer R, Zhang S, Narod SA. Prevalence of BRCA1 and BRCA2 mutations in breast cancer patients from Brazil. Breast Cancer Res Treat. 2007; 103:349-53.
-
(2007)
Breast Cancer Res Treat
, vol.103
, pp. 349-353
-
-
Gomes, M.C.1
Costa, M.M.2
Borojevic, R.3
Monteiro, A.N.4
Vieira, R.5
Koifman, S.6
Koifman, R.J.7
Li, S.8
Royer, R.9
Zhang, S.10
Narod, S.A.11
-
9
-
-
84873519343
-
BRCA1 and BRCA2 analysis of Argentinean breast/ovarian cancer patients selected for age and family history highlights a role for novel mutations of putative south-American origin
-
Solano AR, Aceto GM, Delettieres D, Veschi S, Neuman MI, Alonso E, Chialina S, Chacón RD, Renato MC, Podestá EJ. BRCA1 and BRCA2 analysis of Argentinean breast/ovarian cancer patients selected for age and family history highlights a role for novel mutations of putative south-American origin. Springerplus. 2012; 1:20.
-
(2012)
Springerplus
, vol.1
, pp. 20
-
-
Solano, A.R.1
Aceto, G.M.2
Delettieres, D.3
Veschi, S.4
Neuman, M.I.5
Alonso, E.6
Chialina, S.7
Chacón, R.D.8
Renato, M.C.9
Podestá, E.J.10
-
10
-
-
79959268485
-
BRCA1 and BRCA2 germline mutations in Uruguayan breast and breast-ovarian cancer families. Identification of novel mutations and unclassified variants
-
Delgado L, Fernández G, Grotiuz G, Cataldi S, González A, Lluveras N, Heguaburu M, Fresco R, Lens D, Sabini G, Muse IM. BRCA1 and BRCA2 germline mutations in Uruguayan breast and breast-ovarian cancer families. Identification of novel mutations and unclassified variants. Breast Cancer Res Treat. 2011; 128:211-18.
-
(2011)
Breast Cancer Res Treat
, vol.128
, pp. 211-218
-
-
Delgado, L.1
Fernández, G.2
Grotiuz, G.3
Cataldi, S.4
González, A.5
Lluveras, N.6
Heguaburu, M.7
Fresco, R.8
Lens, D.9
Sabini, G.10
Muse, I.M.11
-
11
-
-
84866135226
-
BRCA1 and BRCA2 mutations in breast cancer patients from Venezuela
-
Lara K, Consigliere N, Pérez J, Porco A. BRCA1 and BRCA2 mutations in breast cancer patients from Venezuela. Biol Res. 2012; 45:117-30.
-
(2012)
Biol Res
, vol.45
, pp. 117-130
-
-
Lara, K.1
Consigliere, N.2
Pérez, J.3
Porco, A.4
-
12
-
-
16944363862
-
Founder BRCA1 and BRCA2 mutations in Ashkenazi Jews in Israel: frequency and differential penetrance in ovarian cancer and in breast-ovarian cancer families
-
Levy-Lahad E, Catane R, Eisenberg S, Kaufman B, Hornreich G, Lishinsky E, Shohat M, Weber BL, Beller U, Lahad A, Halle D. Founder BRCA1 and BRCA2 mutations in Ashkenazi Jews in Israel: frequency and differential penetrance in ovarian cancer and in breast-ovarian cancer families. Am J Hum Genet. 1997; 60:1059-67.
-
(1997)
Am J Hum Genet
, vol.60
, pp. 1059-1067
-
-
Levy-Lahad, E.1
Catane, R.2
Eisenberg, S.3
Kaufman, B.4
Hornreich, G.5
Lishinsky, E.6
Shohat, M.7
Weber, B.L.8
Beller, U.9
Lahad, A.10
Halle, D.11
-
13
-
-
9444248601
-
High prevalence of the 999del5 mutation in icelandic breast and ovarian cancer patients
-
Johannesdottir G, Gudmundsson J, Bergthorsson JT, Arason A, Agnarsson BA, Eiriksdottir G, Johannsson OT, Borg A, Ingvarsson S, Easton DF, Egilsson V, Barkardottir RB. High prevalence of the 999del5 mutation in icelandic breast and ovarian cancer patients. Cancer Res. 1996; 56:3663-65.
-
(1996)
Cancer Res
, vol.56
, pp. 3663-3665
-
-
Johannesdottir, G.1
Gudmundsson, J.2
Bergthorsson, J.T.3
Arason, A.4
Agnarsson, B.A.5
Eiriksdottir, G.6
Johannsson, O.T.7
Borg, A.8
Ingvarsson, S.9
Easton, D.F.10
Egilsson, V.11
Barkardottir, R.B.12
-
14
-
-
0030140026
-
A single BRCA2 mutation in male and female breast cancer families from Iceland with varied cancer phenotypes
-
Thorlacius S, Olafsdottir G, Tryggvadottir L, Neuhausen S, Jonasson JG, Tavtigian SV, Tulinius H, Ogmundsdottir HM, Eyfjörd JE. A single BRCA2 mutation in male and female breast cancer families from Iceland with varied cancer phenotypes. Nat Genet. 1996; 13:117-19.
-
(1996)
Nat Genet
, vol.13
, pp. 117-119
-
-
Thorlacius, S.1
Olafsdottir, G.2
Tryggvadottir, L.3
Neuhausen, S.4
Jonasson, J.G.5
Tavtigian, S.V.6
Tulinius, H.7
Ogmundsdottir, H.M.8
Eyfjörd, J.E.9
-
15
-
-
0030956589
-
Study of a single BRCA2 mutation with high carrier frequency in a small population
-
Thorlacius S, Sigurdsson S, Bjarnadottir H, Olafsdottir G, Jonasson JG, Tryggvadottir L, Tulinius H, Eyfjörd JE. Study of a single BRCA2 mutation with high carrier frequency in a small population. Am J Hum Genet. 1997; 60:1079-84.
-
(1997)
Am J Hum Genet
, vol.60
, pp. 1079-1084
-
-
Thorlacius, S.1
Sigurdsson, S.2
Bjarnadottir, H.3
Olafsdottir, G.4
Jonasson, J.G.5
Tryggvadottir, L.6
Tulinius, H.7
Eyfjörd, J.E.8
-
16
-
-
2942572799
-
A high proportion of founder BRCA1 mutations in Polish breast cancer families
-
Górski B, Jakubowska A, Huzarski T, Byrski T, Gronwald J, Grzybowska E, Mackiewicz A, Stawicka M, Bebenek M, Sorokin D, Fiszer-Maliszewska L, Haus O, Janiszewska H, et al. A high proportion of founder BRCA1 mutations in Polish breast cancer families. Int J Cancer. 2004; 110:683-86.
-
(2004)
Int J Cancer
, vol.110
, pp. 683-686
-
-
Górski, B.1
Jakubowska, A.2
Huzarski, T.3
Byrski, T.4
Gronwald, J.5
Grzybowska, E.6
Mackiewicz, A.7
Stawicka, M.8
Bebenek, M.9
Sorokin, D.10
Fiszer-Maliszewska, L.11
Haus, O.12
Janiszewska, H.13
-
17
-
-
52449104671
-
Five recurrent BRCA1/2 mutations are responsible for cancer predisposition in the majority of Slovenian breast cancer families
-
Krajc M, Teugels E, Zgajnar J, Goelen G, Besic N, Novakovic S, Hocevar M, De Grève J. Five recurrent BRCA1/2 mutations are responsible for cancer predisposition in the majority of Slovenian breast cancer families. BMC Med Genet. 2008; 9:83.
-
(2008)
BMC Med Genet
, vol.9
, pp. 83
-
-
Krajc, M.1
Teugels, E.2
Zgajnar, J.3
Goelen, G.4
Besic, N.5
Novakovic, S.6
Hocevar, M.7
De Grève, J.8
-
18
-
-
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 (Suppl 6); 18:vi93-98.
-
(2007)
Ann Oncol
, vol.18
, pp. vi93-vi98
-
-
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
-
19
-
-
84901670506
-
Prevalence and impact of founder mutations in hereditary breast cancer in Latin America
-
Ashton-Prolla P, Vargas FR. Prevalence and impact of founder mutations in hereditary breast cancer in Latin America. Genet Mol Biol. 2014 (Suppl ); 37:234-40.
-
(2014)
Genet Mol Biol
, vol.37
, pp. 234-240
-
-
Ashton-Prolla, P.1
Vargas, F.R.2
-
20
-
-
84978488585
-
Founder and Recurrent Mutations in BRCA1 and BRCA2 Genes in Latin American Countries: State of the Art and Literature Review
-
Ossa CA, Torres D. Founder and Recurrent Mutations in BRCA1 and BRCA2 Genes in Latin American Countries: State of the Art and Literature Review. Oncologist. 2016; 21:832-39.
-
(2016)
Oncologist
, vol.21
, pp. 832-839
-
-
Ossa, C.A.1
Torres, D.2
-
21
-
-
79958701431
-
Spectrum of BRCA1/2 point mutations and genomic rearrangements in high-risk breast/ovarian cancer Chilean families
-
Gonzalez-Hormazabal P, Gutierrez-Enriquez S, Gaete D, Reyes JM, Peralta O, Waugh E, Gomez F, Margarit S, Bravo T, Blanco R, Diez O, Jara L. Spectrum of BRCA1/2 point mutations and genomic rearrangements in high-risk breast/ovarian cancer Chilean families. Breast Cancer Res Treat. 2011; 126:705-16.
-
(2011)
Breast Cancer Res Treat
, vol.126
, pp. 705-716
-
-
Gonzalez-Hormazabal, P.1
Gutierrez-Enriquez, S.2
Gaete, D.3
Reyes, J.M.4
Peralta, O.5
Waugh, E.6
Gomez, F.7
Margarit, S.8
Bravo, T.9
Blanco, R.10
Diez, O.11
Jara, L.12
-
22
-
-
44849102450
-
Functional assays for classification of BRCA2 variants of uncertain significance
-
Farrugia DJ, Agarwal MK, Pankratz VS, Deffenbaugh AM, Pruss D, Frye C, Wadum L, Johnson K, Mentlick J, Tavtigian SV, Goldgar DE, Couch FJ. Functional assays for classification of BRCA2 variants of uncertain significance. Cancer Res. 2008; 68:3523-31.
-
(2008)
Cancer Res
, vol.68
, pp. 3523-3531
-
-
Farrugia, D.J.1
Agarwal, M.K.2
Pankratz, V.S.3
Deffenbaugh, A.M.4
Pruss, D.5
Frye, C.6
Wadum, L.7
Johnson, K.8
Mentlick, J.9
Tavtigian, S.V.10
Goldgar, D.E.11
Couch, F.J.12
-
23
-
-
17644444777
-
The R71G BRCA1 is a founder Spanish mutation and leads to aberrant splicing of the transcript
-
Vega A, Campos B, Bressac-De-Paillerets B, Bond PM, Janin N, Douglas FS, Domènech M, Baena M, Pericay C, Alonso C, Carracedo A, Baiget M, Diez O. The R71G BRCA1 is a founder Spanish mutation and leads to aberrant splicing of the transcript. Hum Mutat. 2001; 17:520-21.
-
(2001)
Hum Mutat
, vol.17
, pp. 520-521
-
-
Vega, A.1
Campos, B.2
Bressac-De-Paillerets, B.3
Bond, P.M.4
Janin, N.5
Douglas, F.S.6
Domènech, M.7
Baena, M.8
Pericay, C.9
Alonso, C.10
Carracedo, A.11
Baiget, M.12
Diez, O.13
-
24
-
-
85030460118
-
Spectrum of BRCA1/2 variants in 940 patients from Argentina including novel, deleterious and recurrent germline mutations: impact on healthcare and clinical practice
-
Jul 24. [Epub ahead of print.]
-
Solano AR, Cardoso FC, Romano V, Perazzo F, Bas C, Recondo G, Santillan FB, Gonzalez E, Abalo E, Viniegra M, Michel JD, Nuñez LM, Noblia CM, et al. Spectrum of BRCA1/2 variants in 940 patients from Argentina including novel, deleterious and recurrent germline mutations: impact on healthcare and clinical practice. Oncotarget. 2016 Jul 24. [Epub ahead of print.] https://doi.org/10.18632/oncotarget.10814.
-
(2016)
Oncotarget
-
-
Solano, A.R.1
Cardoso, F.C.2
Romano, V.3
Perazzo, F.4
Bas, C.5
Recondo, G.6
Santillan, F.B.7
Gonzalez, E.8
Abalo, E.9
Viniegra, M.10
Michel, J.D.11
Nuñez, L.M.12
Noblia, C.M.13
-
25
-
-
22244470367
-
Prevalence of BRCA mutations and founder effect in high-risk Hispanic families
-
Weitzel JN, Lagos V, Blazer KR, Nelson R, Ricker C, Herzog J, McGuire C, Neuhausen S. Prevalence of BRCA mutations and founder effect in high-risk Hispanic families. Cancer Epidemiol Biomarkers Prev. 2005; 14:1666-71.
-
(2005)
Cancer Epidemiol Biomarkers Prev
, vol.14
, pp. 1666-1671
-
-
Weitzel, J.N.1
Lagos, V.2
Blazer, K.R.3
Nelson, R.4
Ricker, C.5
Herzog, J.6
McGuire, C.7
Neuhausen, S.8
-
26
-
-
85021886007
-
Prevalence and Penetrance of BRCA1 and BRCA2 Germline Mutations in Colombian Breast Cancer Patients
-
Torres D, Bermejo JL, Rashid MU, Briceño I, Gil F, Beltran A, Ariza V, Hamann U. Prevalence and Penetrance of BRCA1 and BRCA2 Germline Mutations in Colombian Breast Cancer Patients. Sci Rep. 2017; 7:4713.
-
(2017)
Sci Rep
, vol.7
, pp. 4713
-
-
Torres, D.1
Bermejo, J.L.2
Rashid, M.U.3
Briceño, I.4
Gil, F.5
Beltran, A.6
Ariza, V.7
Hamann, U.8
-
27
-
-
84948381562
-
The spectrum of BRCA1 and BRCA2 alleles in Latin America and the Caribbean: a clinical perspective
-
Dutil J, Golubeva VA, Pacheco-Torres AL, Diaz-Zabala HJ, Matta JL, Monteiro AN. The spectrum of BRCA1 and BRCA2 alleles in Latin America and the Caribbean: a clinical perspective. Breast Cancer Res Treat. 2015; 154:441-53.
-
(2015)
Breast Cancer Res Treat
, vol.154
, pp. 441-453
-
-
Dutil, J.1
Golubeva, V.A.2
Pacheco-Torres, A.L.3
Diaz-Zabala, H.J.4
Matta, J.L.5
Monteiro, A.N.6
-
28
-
-
84872579612
-
Prevalence and type of BRCA mutations in Hispanics undergoing genetic cancer risk assessment in the southwestern United States: a report from the Clinical Cancer Genetics Community Research Network
-
Weitzel JN, Clague J, Martir-Negron A, Ogaz R, Herzog J, Ricker C, Jungbluth C, Cina C, Duncan P, Unzeitig G, Saldivar JS, Beattie M, Feldman N, et al. Prevalence and type of BRCA mutations in Hispanics undergoing genetic cancer risk assessment in the southwestern United States: a report from the Clinical Cancer Genetics Community Research Network. J Clin Oncol. 2013; 31:210-16.
-
(2013)
J Clin Oncol
, vol.31
, pp. 210-216
-
-
Weitzel, J.N.1
Clague, J.2
Martir-Negron, A.3
Ogaz, R.4
Herzog, J.5
Ricker, C.6
Jungbluth, C.7
Cina, C.8
Duncan, P.9
Unzeitig, G.10
Saldivar, J.S.11
Beattie, M.12
Feldman, N.13
-
29
-
-
84899478727
-
Prevalence of BRCA1 and BRCA2 mutations in unselected breast cancer patients from medellín, Colombia
-
Hernández JE, Llacuachaqui M, Palacio GV, Figueroa JD, Madrid J, Lema M, Royer R, Li S, Larson G, Weitzel JN, Narod SA. Prevalence of BRCA1 and BRCA2 mutations in unselected breast cancer patients from medellín, Colombia. Hered Cancer Clin Pract. 2014; 12:11.
-
(2014)
Hered Cancer Clin Pract
, vol.12
, pp. 11
-
-
Hernández, J.E.1
Llacuachaqui, M.2
Palacio, G.V.3
Figueroa, J.D.4
Madrid, J.5
Lema, M.6
Royer, R.7
Li, S.8
Larson, G.9
Weitzel, J.N.10
Narod, S.A.11
-
30
-
-
84921503732
-
Significant clinical impact of recurrent BRCA1 and BRCA2 mutations in Mexico
-
Villarreal-Garza C, Alvarez-Gómez RM, Pérez-Plasencia C, Herrera LA, Herzog J, Castillo D, Mohar A, Castro C, Gallardo LN, Gallardo D, Santibáñez M, Blazer KR, Weitzel JN. Significant clinical impact of recurrent BRCA1 and BRCA2 mutations in Mexico. Cancer. 2015; 121:372-78.
-
(2015)
Cancer
, vol.121
, pp. 372-378
-
-
Villarreal-Garza, C.1
Alvarez-Gómez, R.M.2
Pérez-Plasencia, C.3
Herrera, L.A.4
Herzog, J.5
Castillo, D.6
Mohar, A.7
Castro, C.8
Gallardo, L.N.9
Gallardo, D.10
Santibáñez, M.11
Blazer, K.R.12
Weitzel, J.N.13
-
31
-
-
84941631312
-
Prevalence of BRCA1 and BRCA2 mutations in unselected breast cancer patients from Peru
-
Abugattas J, Llacuachaqui M, Allende YS, Velásquez AA, Velarde R, Cotrina J, Garcés M, León M, Calderón G, de la Cruz M, Mora P, Royer R, Herzog J, et al. Prevalence of BRCA1 and BRCA2 mutations in unselected breast cancer patients from Peru. Clin Genet. 2015; 88:371-75.
-
(2015)
Clin Genet
, vol.88
, pp. 371-375
-
-
Abugattas, J.1
Llacuachaqui, M.2
Allende, Y.S.3
Velásquez, A.A.4
Velarde, R.5
Cotrina, J.6
Garcés, M.7
León, M.8
Calderón, G.9
de la Cruz, M.10
Mora, P.11
Royer, R.12
Herzog, J.13
-
32
-
-
84992202237
-
Prevalence of Hispanic BRCA1 and BRCA2 mutations among hereditary breast and ovarian cancer patients from Brazil reveals differences among Latin American populations
-
Alemar B, Herzog J, Brinckmann Oliveira Netto C, Artigalás O, Schwartz IV, Matzenbacher Bittar C, Ashton-Prolla P, Weitzel JN. Prevalence of Hispanic BRCA1 and BRCA2 mutations among hereditary breast and ovarian cancer patients from Brazil reveals differences among Latin American populations. Cancer Genet. 2016; 209:417-22.
-
(2016)
Cancer Genet
, vol.209
, pp. 417-422
-
-
Alemar, B.1
Herzog, J.2
Brinckmann Oliveira Netto, C.3
Artigalás, O.4
Schwartz, I.V.5
Matzenbacher Bittar, C.6
Ashton-Prolla, P.7
Weitzel, J.N.8
-
33
-
-
84948387036
-
Germline mutations in BRCA1, BRCA2, CHEK2 and TP53 in patients at high-risk for HBOC: characterizing a Northeast Brazilian Population
-
Felix GE, Abe-Sandes C, Machado-Lopes TM, Bomfim TF, Guindalini RS, Santos VC, Meyer L, Oliveira PC, Cláudio Neiva J, Meyer R, Romeo M, Betânia Toralles M, Nascimento I, Abe-Sandes K. Germline mutations in BRCA1, BRCA2, CHEK2 and TP53 in patients at high-risk for HBOC: characterizing a Northeast Brazilian Population. Hum Genome Var. 2014; 1:14012.
-
(2014)
Hum Genome Var
, vol.1
, pp. 14012
-
-
Felix, G.E.1
Abe-Sandes, C.2
Machado-Lopes, T.M.3
Bomfim, T.F.4
Guindalini, R.S.5
Santos, V.C.6
Meyer, L.7
Oliveira, P.C.8
Cláudio Neiva, J.9
Meyer, R.10
Romeo, M.11
Betânia Toralles, M.12
Nascimento, I.13
Abe-Sandes, K.14
-
34
-
-
33745910586
-
High proportion of novel mutations of BRCA1 and BRCA2 in breast/ovarian cancer patients from Castilla-León (central Spain)
-
Infante M, Durán M, Esteban-Cardeñosa E, Miner C, Velasco E. High proportion of novel mutations of BRCA1 and BRCA2 in breast/ovarian cancer patients from Castilla-León (central Spain). J Hum Genet. 2006; 51:611-17.
-
(2006)
J Hum Genet
, vol.51
, pp. 611-617
-
-
Infante, M.1
Durán, M.2
Esteban-Cardeñosa, E.3
Miner, C.4
Velasco, E.5
-
35
-
-
53949120004
-
Genetic analysis of BRCA1 and BRCA2 in breast/ovarian cancer families from Aragon (Spain): two novel truncating mutations and a large genomic deletion in BRCA1
-
Miramar MD, Calvo MT, Rodriguez A, Antón A, Lorente F, Barrio E, Herrero A, Burriel J, García de Jalón A. Genetic analysis of BRCA1 and BRCA2 in breast/ovarian cancer families from Aragon (Spain): two novel truncating mutations and a large genomic deletion in BRCA1. Breast Cancer Res Treat. 2008; 112:353-58.
-
(2008)
Breast Cancer Res Treat
, vol.112
, pp. 353-358
-
-
Miramar, M.D.1
Calvo, M.T.2
Rodriguez, A.3
Antón, A.4
Lorente, F.5
Barrio, E.6
Herrero, A.7
Burriel, J.8
García de Jalón, A.9
-
36
-
-
73049103397
-
BRCA1 5272-1G>A and BRCA2 5374delTATG are founder mutations of high relevance for genetic counselling in breast/ovarian cancer families of Spanish origin
-
Infante M, Durán M, Acedo A, Pérez-Cabornero L, Sanz DJ, García-González M, Beristain E, Esteban-Cardeñosa E, de la Hoya M, Teulé A, Vega A, Tejada MI, Lastra E, et al. BRCA1 5272-1G>A and BRCA2 5374delTATG are founder mutations of high relevance for genetic counselling in breast/ovarian cancer families of Spanish origin. Clin Genet. 2010; 77:60-69.
-
(2010)
Clin Genet
, vol.77
, pp. 60-69
-
-
Infante, M.1
Durán, M.2
Acedo, A.3
Pérez-Cabornero, L.4
Sanz, D.J.5
García-González, M.6
Beristain, E.7
Esteban-Cardeñosa, E.8
de la Hoya, M.9
Teulé, A.10
Vega, A.11
Tejada, M.I.12
Lastra, E.13
-
38
-
-
0036484684
-
[Genetic composition of the Chilean population. Analysis of mitochondrial DNA polymorphism]. [Article in Spanish]
-
Rocco P, Morales C, Moraga M, Miquel JF, Nervi F, Llop E, Carvallo P, Rothhammer F. [Genetic composition of the Chilean population. Analysis of mitochondrial DNA polymorphism]. [Article in Spanish]. Rev Med Chil. 2002; 130:125-31.
-
(2002)
Rev Med Chil
, vol.130
, pp. 125-131
-
-
Rocco, P.1
Morales, C.2
Moraga, M.3
Miquel, J.F.4
Nervi, F.5
Llop, E.6
Carvallo, P.7
Rothhammer, F.8
-
39
-
-
0026080111
-
A rapid non-enzymatic method for the preparation of HMW DNA from blood for RFLP studies
-
Lahiri DK, Nurnberger JI Jr. A rapid non-enzymatic method for the preparation of HMW DNA from blood for RFLP studies. Nucleic Acids Res. 1991; 19:5444.
-
(1991)
Nucleic Acids Res
, vol.19
, pp. 5444
-
-
Lahiri, D.K.1
Nurnberger, J.I.2
-
40
-
-
42149139456
-
ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007
-
Richards CS, Bale S, Bellissimo DB, Das S, Grody WW, Hegde MR, Lyon E, Ward BE, and Molecular Subcommittee of the ACMG Laboratory Quality Assurance Committee. ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007. Genet Med. 2008; 10:294-300.
-
(2008)
Genet Med
, vol.10
, pp. 294-300
-
-
Richards, C.S.1
Bale, S.2
Bellissimo, D.B.3
Das, S.4
Grody, W.W.5
Hegde, M.R.6
Lyon, E.7
Ward, B.E.8
-
41
-
-
77955405475
-
Deriving the consequences of genomic variants with the Ensembl API and SNP Effect Predictor
-
McLaren W, Pritchard B, Rios D, Chen Y, Flicek P, Cunningham F. Deriving the consequences of genomic variants with the Ensembl API and SNP Effect Predictor. Bioinformatics. 2010; 26:2069-70.
-
(2010)
Bioinformatics
, vol.26
, pp. 2069-2070
-
-
McLaren, W.1
Pritchard, B.2
Rios, D.3
Chen, Y.4
Flicek, P.5
Cunningham, F.6
-
42
-
-
33644537810
-
Comprehensive statistical study of 452 BRCA1 missense substitutions with classification of eight recurrent substitutions as neutral
-
Tavtigian SV, Deffenbaugh AM, Yin L, Judkins T, Scholl T, Samollow PB, de Silva D, Zharkikh A, Thomas A. Comprehensive statistical study of 452 BRCA1 missense substitutions with classification of eight recurrent substitutions as neutral. J Med Genet. 2006; 43:295-305.
-
(2006)
J Med Genet
, vol.43
, pp. 295-305
-
-
Tavtigian, S.V.1
Deffenbaugh, A.M.2
Yin, L.3
Judkins, T.4
Scholl, T.5
Samollow, P.B.6
de Silva, D.7
Zharkikh, A.8
Thomas, A.9
-
43
-
-
0035026704
-
Predicting deleterious amino acid substitutions
-
Ng PC, Henikoff S. Predicting deleterious amino acid substitutions. Genome Res. 2001; 11:863-74.
-
(2001)
Genome Res
, vol.11
, pp. 863-874
-
-
Ng, P.C.1
Henikoff, S.2
-
44
-
-
84867301515
-
Predicting the functional effect of amino acid substitutions and indels
-
Choi Y, Sims GE, Murphy S, Miller JR, Chan AP. Predicting the functional effect of amino acid substitutions and indels. PLoS One. 2012; 7:e46688.
-
(2012)
PLoS One
, vol.7
-
-
Choi, Y.1
Sims, G.E.2
Murphy, S.3
Miller, J.R.4
Chan, A.P.5
-
45
-
-
77951640946
-
A method and server for predicting damaging missense mutations
-
Adzhubei IA, Schmidt S, Peshkin L, Ramensky VE, Gerasimova A, Bork P, Kondrashov AS, Sunyaev SR. A method and server for predicting damaging missense mutations. Nat Methods. 2010; 7:248-49.
-
(2010)
Nat Methods
, vol.7
, pp. 248-249
-
-
Adzhubei, I.A.1
Schmidt, S.2
Peshkin, L.3
Ramensky, V.E.4
Gerasimova, A.5
Bork, P.6
Kondrashov, A.S.7
Sunyaev, S.R.8
-
46
-
-
66249120367
-
Human Splicing Finder: an online bioinformatics tool to predict splicing signals
-
Desmet FO, Hamroun D, Lalande M, Collod-Béroud G, Claustres M, Béroud C. Human Splicing Finder: an online bioinformatics tool to predict splicing signals. Nucleic Acids Res. 2009; 37:e67.
-
(2009)
Nucleic Acids Res
, vol.37
, pp. e67
-
-
Desmet, F.O.1
Hamroun, D.2
Lalande, M.3
Collod-Béroud, G.4
Claustres, M.5
Béroud, C.6
-
47
-
-
0035071957
-
A new statistical method for haplotype reconstruction from population data
-
Stephens M, Smith NJ, Donnelly P. A new statistical method for haplotype reconstruction from population data. Am J Hum Genet. 2001; 68:978-89.
-
(2001)
Am J Hum Genet
, vol.68
, pp. 978-989
-
-
Stephens, M.1
Smith, N.J.2
Donnelly, P.3
-
48
-
-
0242691208
-
A comparison of bayesian methods for haplotype reconstruction from population genotype data
-
Stephens M, Donnelly P. A comparison of bayesian methods for haplotype reconstruction from population genotype data. Am J Hum Genet. 2003; 73:1162-69.
-
(2003)
Am J Hum Genet
, vol.73
, pp. 1162-1169
-
-
Stephens, M.1
Donnelly, P.2
|