-
1
-
-
0035995598
-
Familial risks of breast cancer
-
Easton DF (2002) Familial risks of breast cancer. Breast Cancer Res 4(5):179-181.
-
(2002)
Breast Cancer Res
, vol.4
, Issue.5
, pp. 179-181
-
-
Easton, D.F.1
-
2
-
-
0029955159
-
The genetic attributable risk of breast and ovarian cancer
-
Claus EB, Schildkraut JM, Thompson WD, Risch NJ (1996) The genetic attributable risk of breast and ovarian cancer. Cancer 77(11):2318-2324.
-
(1996)
Cancer
, vol.77
, Issue.11
, pp. 2318-2324
-
-
Claus, E.B.1
Schildkraut, J.M.2
Thompson, W.D.3
Risch, N.J.4
-
3
-
-
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 al (1994) A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1. Science 266(5182):66-71.
-
(1994)
Science
, vol.266
, Issue.5182
, 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
-
4
-
-
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 (1995) Identification of the breast cancer susceptibility gene BRCA2. Nature 378(6559):789-792.
-
(1995)
Nature
, vol.378
, Issue.6559
, 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
-
5
-
-
78649663174
-
BRCA mutations in the management of breast cancer: The state of the art
-
Narod SA (2010) BRCA mutations in the management of breast cancer: the state of the art. Nat Rev Clin Oncol 7(12):702-707.
-
(2010)
Nat Rev Clin Oncol
, vol.7
, Issue.12
, pp. 702-707
-
-
Narod, S.A.1
-
6
-
-
78649662629
-
The role of BRCA mutation testing in determining breast cancer therapy
-
Trainer AH, Lewis CR, Tucker K, Meiser B, Friedlander M, Ward RL (2010) The role of BRCA mutation testing in determining breast cancer therapy. Nat Rev Clin Oncol 7(12):708-717.
-
(2010)
Nat Rev Clin Oncol
, vol.7
, Issue.12
, pp. 708-717
-
-
Trainer, A.H.1
Lewis, C.R.2
Tucker, K.3
Meiser, B.4
Friedlander, M.5
Ward, R.L.6
-
7
-
-
85080484712
-
-
Breast Cancer Information Core database
-
Breast Cancer Information Core database. http://researcnhgrinihgov/bic
-
-
-
-
8
-
-
77951237625
-
BRCA1 and BRCA2 mutations across race and ethnicity: Distribution and clinical implications
-
Kurian AW (2010) BRCA1 and BRCA2 mutations across race and ethnicity: distribution and clinical implications. Curr Opin Obstet Gynecol 22(1):72-78.
-
(2010)
Curr Opin Obstet Gynecol
, vol.22
, Issue.1
, pp. 72-78
-
-
Kurian, A.W.1
-
9
-
-
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 (1997) 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 60(5):1059-1067.
-
(1997)
Am J Hum Genet
, vol.60
, Issue.5
, 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
-
10
-
-
8544252461
-
Ashkenazi Jewish genetic disorders
-
Charrow J (2004) Ashkenazi Jewish genetic disorders. Fam Cancer 3(3-4):201-206.
-
(2004)
Fam Cancer
, vol.3
, Issue.3-4
, pp. 201-206
-
-
Charrow, J.1
-
11
-
-
0030049823
-
BRCA1 mutations in a population-based sample of young women with breast cancer
-
Langston AA, Malone KE, Thompson JD, Daling JR, Ostrander EA (1996) BRCA1 mutations in a population-based sample of young women with breast cancer. N Engl J Med 334(3):137-142.
-
(1996)
N Engl J Med
, vol.334
, Issue.3
, pp. 137-142
-
-
Langston, A.A.1
Malone, K.E.2
Thompson, J.D.3
Daling, J.R.4
Ostrander, E.A.5
-
12
-
-
0041592486
-
Prevalence of BRCA1 and BRCA2 germline mutations in young breast cancer patients: A population-based study
-
de Sanjose S, Leone M, Berez V, Izquierdo A, Font R, Brunet JM, Louat T, Vilardell L, Borras J, Viladiu P, Bosch FX, Lenoir GM, Sinilnikova OM (2003) Prevalence of BRCA1 and BRCA2 germline mutations in young breast cancer patients: a population-based study. Int J Cancer 106(4):588-593.
-
(2003)
Int J Cancer
, vol.106
, Issue.4
, pp. 588-593
-
-
de Sanjose, S.1
Leone, M.2
Berez, V.3
Izquierdo, A.4
Font, R.5
Brunet, J.M.6
Louat, T.7
Vilardell, L.8
Borras, J.9
Viladiu, P.10
Bosch, F.X.11
Lenoir, G.M.12
Sinilnikova, O.M.13
-
13
-
-
44349190246
-
BRCA1 and BRCA2 germline mutations in Malaysian women with early-onset breast cancer without a family history
-
Toh GT, Kang P, Lee SS, Lee DS, Lee SY, Selamat S, Mohd Taib NA, Yoon SY, Yip CH, Teo SH (2008) BRCA1 and BRCA2 germline mutations in Malaysian women with early-onset breast cancer without a family history. PLoS One 3(4):e2024.
-
(2008)
PLoS One
, vol.3
, Issue.4
-
-
Toh, G.T.1
Kang, P.2
Lee, S.S.3
Lee, D.S.4
Lee, S.Y.5
Selamat, S.6
Mohd, T.N.A.7
Yoon, S.Y.8
Yip, C.H.9
Teo, S.H.10
-
14
-
-
77950371028
-
Long-term outcomes of breast cancer in women aged 30 years or younger, based on family history, pathology and BRCA1/BRCA2/TP53 status
-
Evans DG, Moran A, Hartley R, Dawson J, Bulman B, Knox F, Howell A, Lalloo F (2010) Long-term outcomes of breast cancer in women aged 30 years or younger, based on family history, pathology and BRCA1/BRCA2/TP53 status. Br J Cancer 102(7):1091-1098.
-
(2010)
Br J Cancer
, vol.102
, Issue.7
, pp. 1091-1098
-
-
Evans, D.G.1
Moran, A.2
Hartley, R.3
Dawson, J.4
Bulman, B.5
Knox, F.6
Howell, A.7
Lalloo, F.8
-
15
-
-
0035884714
-
Breast cancer in South America: Challenges to improve early detection and medical management of a public health problem
-
Schwartsmann G (2001) Breast cancer in South America: challenges to improve early detection and medical management of a public health problem. J Clin Oncol 19(18 Suppl):118S-124S
-
(2001)
J Clin Oncol
, vol.19
, Issue.18 SUPPL.
, pp. 118-124
-
-
Schwartsmann, G.1
-
16
-
-
41949133594
-
Geographic patterns of genome admixture in Latin American Mestizos
-
Wang S, Ray N, Rojas W, Parra MV, Bedoya G, Gallo C, Poletti G, Mazzotti G, Hill K, Hurtado AM, Camrena B, Nicolini H, Klitz W, Barrantes R, Molina JA, Freimer NB, Bortolini MC, Salzano FM, Petzl-Erler ML, Tsuneto LT, Dipierri JE, Alfaro EL, Bailliet G, Bianchi NO, Llop E, Rothhammer F, Excoffier L, Ruiz- Linares A (2008) Geographic patterns of genome admixture in Latin American Mestizos. PLoS Genet 4(3):e1000037.
-
(2008)
PLoS Genet
, vol.4
, Issue.3
-
-
Wang, S.1
Ray, N.2
Rojas, W.3
Parra, M.V.4
Bedoya, G.5
Gallo, C.6
Poletti, G.7
Mazzotti, G.8
Hill, K.9
Hurtado, A.M.10
Camrena, B.11
Nicolini, H.12
Klitz, W.13
Barrantes, R.14
Molina, J.A.15
Freimer, N.B.16
Bortolini, M.C.17
Salzano, F.M.18
Petzl-Erler, M.L.19
Tsuneto, L.T.20
Dipierri, J.E.21
Alfaro, E.L.22
Bailliet, G.23
Bianchi, N.O.24
Llop, E.25
Rothhammer, F.26
Excoffier, L.27
Ruiz-Linares, A.28
more..
-
17
-
-
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 (2007) Prevalence of BRCA1 and BRCA2 mutations in breast cancer patients from Brazil. Breast Cancer Res Treat 103(3):349-353.
-
(2007)
Breast Cancer Res Treat
, vol.103
, Issue.3
, 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
-
18
-
-
33646492478
-
BRCA1 and BRCA2 mutations in a South American population
-
Jara L, Ampuero S, Santibanez E, Seccia L, Rodriguez J, Bustamante M, Martinez V, Catenaccio A, Lay-Son G, Blanco R, Reyes JM (2006) BRCA1 and BRCA2 mutations in a South American population. Cancer Genet Cytogenet 166(1):36-45.
-
(2006)
Cancer Genet Cytogenet
, vol.166
, Issue.1
, pp. 36-45
-
-
Jara, L.1
Ampuero, S.2
Santibanez, E.3
Seccia, L.4
Rodriguez, J.5
Bustamante, M.6
Martinez, V.7
Catenaccio, A.8
Lay-Son, G.9
Blanco, R.10
Reyes, J.M.11
-
19
-
-
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, Rousseau C, King MC, Camus M, Alvarez M, Carvallo P (2006) Incidence of BRCA1 and BRCA2 mutations in 54 Chilean families with breast/ovarian cancer, genotype-phenotype correlations. Breast Cancer Res Treat 95(1):81-87.
-
(2006)
Breast Cancer Res Treat
, vol.95
, Issue.1
, 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
Rousseau, C.14
King, M.C.15
Camus, M.16
Alvarez, M.17
Carvallo, P.18
-
20
-
-
70350054850
-
Mutational analysis of BRCA1 and BRCA2 genes in Mexican breast cancer patients
-
Vidal-Millan S, Taja-Chayeb L, Gutierrez-Hernandez O, Ramirez Ugalde MT, Robles-Vidal C, Bargallo-Rocha E, Mohar-Betancourt A, Duenas-Gonzalez A (2009) Mutational analysis of BRCA1 and BRCA2 genes in Mexican breast cancer patients. Eur J Gynaecol Oncol 30(5):527-530.
-
(2009)
Eur J Gynaecol Oncol
, vol.30
, Issue.5
, pp. 527-530
-
-
Vidal-Millan, S.1
Taja-Chayeb, L.2
Gutierrez-Hernandez, O.3
Ramirez, U.M.T.4
Robles-Vidal, C.5
Bargallo-Rocha, E.6
Mohar-Betancourt, A.7
Duenas-Gonzalez, A.8
-
21
-
-
0036551324
-
A BRCA1 mutation in Native North American families
-
Liede A, Jack E, Hegele RA, Narod SA (2002) A BRCA1 mutation in Native North American families. Hum Mutat 19(4):460.
-
(2002)
Hum Mutat
, vol.19
, Issue.4
, pp. 460
-
-
Liede, A.1
Jack, E.2
Hegele, R.A.3
Narod, S.A.4
-
22
-
-
34548076029
-
Evidence for common ancestral origin of a recurring BRCA1 genomic rearrangement identified in high-risk Hispanic families
-
Weitzel JN, Lagos VI, Herzog JS, Judkins T, Hendrickson B, Ho JS, Ricker CN, Lowstuter KJ, Blazer KR, Tomlinson G, Scholl T (2007) Evidence for common ancestral origin of a recurring BRCA1 genomic rearrangement identified in high-risk Hispanic families. Cancer Epidemiol Biomarkers Prev 16(8):1615-1620.
-
(2007)
Cancer Epidemiol Biomarkers Prev
, vol.16
, Issue.8
, pp. 1615-1620
-
-
Weitzel, J.N.1
Lagos, V.I.2
Herzog, J.S.3
Judkins, T.4
Hendrickson, B.5
Ho, J.S.6
Ricker, C.N.7
Lowstuter, K.J.8
Blazer, K.R.9
Tomlinson, G.10
Scholl, T.11
-
25
-
-
0033027029
-
Reference database of hypervariable genetic markers of Argentina: Application for molecular anthropology and forensic casework
-
Sala A, Penacino G, Carnese R, Corach D (1999) Reference database of hypervariable genetic markers of Argentina: application for molecular anthropology and forensic casework. Electrophoresis 20(8):1733-1739.
-
(1999)
Electrophoresis
, vol.20
, Issue.8
, pp. 1733-1739
-
-
Sala, A.1
Penacino, G.2
Carnese, R.3
Corach, D.4
-
26
-
-
0036021041
-
A cautionary note: False homozygosity for BRCA2. 6174delT mutation resulting from a single nucleotide polymorphism masking the wt allele
-
Solano AR, Dourisboure RJ, Weitzel J, Podesta EJ (2002) A cautionary note: false homozygosity for BRCA2. 6174delT mutation resulting from a single nucleotide polymorphism masking the wt allele. Eur J Hum Genet 10(6):395-397.
-
(2002)
Eur J Hum Genet
, vol.10
, Issue.6
, pp. 395-397
-
-
Solano, A.R.1
Dourisboure, R.J.2
Weitzel, J.3
Podesta, E.J.4
-
27
-
-
77955557688
-
High-risk human papilloma virus infection, tumor pathophenotypes, and BRCA1/2 and TP53 status in juvenile breast cancer
-
Aceto GM, Solano AR, Neuman MI, Veschi S, Morgano A, Malatesta S, Chacon RD, Pupareli C, Lombardi M, Battista P, Marchetti A, Mariani- Costantini R, Podesta EJ (2009) High-risk human papilloma virus infection, tumor pathophenotypes, and BRCA1/2 and TP53 status in juvenile breast cancer. Breast Cancer Res Treat 122(3):671-683.
-
(2009)
Breast Cancer Res Treat
, vol.122
, Issue.3
, pp. 671-683
-
-
Aceto, G.M.1
Solano, A.R.2
Neuman, M.I.3
Veschi, S.4
Morgano, A.5
Malatesta, S.6
Chacon, R.D.7
Pupareli, C.8
Lombardi, M.9
Battista, P.10
Marchetti, A.11
Mariani-Costantini, R.12
Podesta, E.J.13
-
28
-
-
16044366171
-
Frequency of recurrent BRCA1 and BRCA2 mutations in Ashkenazi Jewish breast cancer families
-
Tonin P, Weber B, Offit K, Couch F, Rebbeck TR, Neuhausen S, Godwin AK, Daly M, Wagner-Costalos J, Berman D, Grana G, Fox E, Kane MF, Kolodner RD, Krainer M, Haber DA, Struewing JP, Warner E, Rosen B, Lerman C, Peshkin B, Norton L, Serova O, Foulkes WD, Garber JE et al (1996) Frequency of recurrent BRCA1 and BRCA2 mutations in Ashkenazi Jewish breast cancer families. Nat Med 2(11):1179-1183.
-
(1996)
Nat Med
, vol.2
, Issue.11
, pp. 1179-1183
-
-
Tonin, P.1
Weber, B.2
Offit, K.3
Couch, F.4
Rebbeck, T.R.5
Neuhausen, S.6
Godwin, A.K.7
Daly, M.8
Wagner-Costalos, J.9
Berman, D.10
Grana, G.11
Fox, E.12
Kane, M.F.13
Kolodner, R.D.14
Krainer, M.15
Haber, D.A.16
Struewing, J.P.17
Warner, E.18
Rosen, B.19
Lerman, C.20
Peshkin, B.21
Norton, L.22
Serova, O.23
Foulkes, W.D.24
Garber, J.E.25
more..
-
29
-
-
33644993216
-
Computational approaches for predicting the biological effect of p53 missense mutations: A comparison of three sequence analysis based methods
-
Mathe E, Olivier M, Kato S, Ishioka C, Hainaut P, Tavtigian SV (2006) Computational approaches for predicting the biological effect of p53 missense mutations: a comparison of three sequence analysis based methods. Nucleic Acids Res 34(5):1317-1325.
-
(2006)
Nucleic Acids Res
, vol.34
, Issue.5
, pp. 1317-1325
-
-
Mathe, E.1
Olivier, M.2
Kato, S.3
Ishioka, C.4
Hainaut, P.5
Tavtigian, S.V.6
-
30
-
-
0036119504
-
Accounting for human polymorphisms predicted to affect protein function
-
Ng PC, Henikoff S (2002) Accounting for human polymorphisms predicted to affect protein function. Genome Res 12(3):436-446.
-
(2002)
Genome Res
, vol.12
, Issue.3
, pp. 436-446
-
-
Ng, P.C.1
Henikoff, S.2
-
31
-
-
0037087536
-
Clinical characteristics of individuals with germline mutations in BRCA1 and BRCA2: Analysis of 10,000 individuals
-
Frank TS, Deffenbaugh AM, Reid JE, Hulick M, Ward BE, Lingenfelter B, Gumpper KL, Scholl T, Tavtigian SV, Pruss DR, Critchfield GC (2002) Clinical characteristics of individuals with germline mutations in BRCA1 and BRCA2: analysis of 10,000 individuals. J Clin Oncol 20(6):1480-1490.
-
(2002)
J Clin Oncol
, vol.20
, Issue.6
, pp. 1480-1490
-
-
Frank, T.S.1
Deffenbaugh, A.M.2
Reid, J.E.3
Hulick, M.4
Ward, B.E.5
Lingenfelter, B.6
Gumpper, K.L.7
Scholl, T.8
Tavtigian, S.V.9
Pruss, D.R.10
Critchfield, G.C.11
-
32
-
-
0031035359
-
The founder mutations 185delAG and 5382insC in BRCA1 and 6174delT in BRCA2 appear in 60% of ovarian cancer and 30% of early-onset breast cancer patients among Ashkenazi women
-
Abeliovich D, Kaduri L, Lerer I, Weinberg N, Amir G, Sagi M, Zlotogora J, Heching N, Peretz T (1997) The founder mutations 185delAG and 5382insC in BRCA1 and 6174delT in BRCA2 appear in 60% of ovarian cancer and 30% of early-onset breast cancer patients among Ashkenazi women. Am J Hum Genet 60(3):505-514.
-
(1997)
Am J Hum Genet
, vol.60
, Issue.3
, pp. 505-514
-
-
Abeliovich, D.1
Kaduri, L.2
Lerer, I.3
Weinberg, N.4
Amir, G.5
Sagi, M.6
Zlotogora, J.7
Heching, N.8
Peretz, T.9
-
33
-
-
77949578084
-
Performance of common genetic variants in breast-cancer risk models
-
Wacholder S, Hartge P, Prentice R, Garcia-Closas M, Feigelson HS, Diver WR, Thun MJ, Cox DG, Hankinson SE, Kraft P, Rosner B, Berg CD, Brinton LA, Lissowska J, Sherman ME, Chlebowski R, Kooperberg C, Jackson RD, Buckman DW, Hui P, Pfeiffer R, Jacobs KB, Thomas GD, Hoover RN, Gail MH, Chanock SJ, Hunter DJ (2010) Performance of common genetic variants in breast-cancer risk models. N Engl J Med 362(11):986-993.
-
(2010)
N Engl J Med
, vol.362
, Issue.11
, pp. 986-993
-
-
Wacholder, S.1
Hartge, P.2
Prentice, R.3
Garcia-Closas, M.4
Feigelson, H.S.5
Diver, W.R.6
Thun, M.J.7
Cox, D.G.8
Hankinson, S.E.9
Kraft, P.10
Rosner, B.11
Berg, C.D.12
Brinton, L.A.13
Lissowska, J.14
Sherman, M.E.15
Chlebowski, R.16
Kooperberg, C.17
Jackson, R.D.18
Buckman, D.W.19
Hui, P.20
Pfeiffer, R.21
Jacobs, K.B.22
Thomas, G.D.23
Hoover, R.N.24
Gail, M.H.25
Chanock, S.J.26
Hunter, D.J.27
more..
-
34
-
-
78049461605
-
Screening: BRCA testing in women younger than 50 with triple-negative breast cancer is cost effective
-
Hutchinson L (2010) Screening: BRCA testing in women younger than 50 with triple-negative breast cancer is cost effective. Nat Rev Clin Oncol 7(11):611.
-
(2010)
Nat Rev Clin Oncol
, vol.7
, Issue.11
, pp. 611
-
-
Hutchinson, L.1
-
36
-
-
77957967823
-
Expanding the criteria for BRCA mutation testing in breast cancer survivors
-
Kwon JS, Gutierrez-Barrera AM, Young D, Sun CC, Daniels MS, Lu KH, Arun B (2010) Expanding the criteria for BRCA mutation testing in breast cancer survivors. J Clin Oncol 28(27):4214-4220.
-
(2010)
J Clin Oncol
, vol.28
, Issue.27
, pp. 4214-4220
-
-
Kwon, J.S.1
Gutierrez-Barrera, A.M.2
Young, D.3
Sun, C.C.4
Daniels, M.S.5
Lu, K.H.6
Arun, B.7
-
37
-
-
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 (2010) Spectrum of BRCA1/2 point mutations and genomic rearrangements in high-risk breast/ovarian cancer Chilean families. Breast Cancer Res Treat 126 (3):705-716.
-
(2010)
Breast Cancer Res Treat
, vol.126
, Issue.3
, 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
-
38
-
-
79959268485
-
BRCA1 and BRCA2 germline mutations in Uruguayan breast and breast-ovarian cancer families. Identification of novel mutations and unclassified variants
-
Delgado L, Fernandez G, Grotiuz G, Cataldi S, Gonzalez A, Lluveras N, Heguaburu M, Fresco R, Lens D, Sabini G, Muse IM (2010) BRCA1 and BRCA2 germline mutations in Uruguayan breast and breast-ovarian cancer families. Identification of novel mutations and unclassified variants. Breast Cancer Res Treat 128(1):211-218.
-
(2010)
Breast Cancer Res Treat
, vol.128
, Issue.1
, pp. 211-218
-
-
Delgado, L.1
Fernandez, G.2
Grotiuz, G.3
Cataldi, S.4
Gonzalez, A.5
Lluveras, N.6
Heguaburu, M.7
Fresco, R.8
Lens, D.9
Sabini, G.10
Muse, I.M.11
-
39
-
-
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 (2005) Prevalence of BRCA mutations and founder effect in high-risk Hispanic families. Cancer Epidemiol Biomarkers Prev 14(7):1666-1671.
-
(2005)
Cancer Epidemiol Biomarkers Prev
, vol.14
, Issue.7
, 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
-
40
-
-
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 (2007) High proportion of BRCA1/2 founder mutations in Hispanic breast/ovarian cancer families from Colombia. Breast Cancer Res Treat 103(2):225-232.
-
(2007)
Breast Cancer Res Treat
, vol.103
, Issue.2
, 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
-
41
-
-
44949263899
-
Spectrum and characterisation of BRCA1 and BRCA2 deleterious mutations in high-risk Czech patients with breast and/or ovarian cancer
-
Machackova E, Foretova L, Lukesova M, Vasickova P, Navratilova M, Coene I, Pavlu H, Kosinova V, Kuklova J, Claes K (2008) Spectrum and characterisation of BRCA1 and BRCA2 deleterious mutations in high-risk Czech patients with breast and/or ovarian cancer. BMC Cancer 8:140.
-
(2008)
BMC Cancer
, vol.8
, pp. 140
-
-
Machackova, E.1
Foretova, L.2
Lukesova, M.3
Vasickova, P.4
Navratilova, M.5
Coene, I.6
Pavlu, H.7
Kosinova, V.8
Kuklova, J.9
Claes, K.10
-
42
-
-
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, Domenech M, Baena M, Pericay C, Alonso C, Carracedo A, Baiget M, Diez O (2001) The R71G BRCA1 is a founder Spanish mutation and leads to aberrant splicing of the transcript. Hum Mutat 17(6):520-521.
-
(2001)
Hum Mutat
, vol.17
, Issue.6
, 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
Domenech, M.7
Baena, M.8
Pericay, C.9
Alonso, C.10
Carracedo, A.11
Baiget, M.12
Diez, O.13
-
43
-
-
4544336084
-
Integrated evaluation of DNA sequence variants of unknown clinical significance: Application to BRCA1 and BRCA2
-
Goldgar DE, Easton DF, Deffenbaugh AM, Monteiro AN, Tavtigian SV, Couch FJ (2004) Integrated evaluation of DNA sequence variants of unknown clinical significance: application to BRCA1 and BRCA2. Am J Hum Genet 75(4):535-544.
-
(2004)
Am J Hum Genet
, vol.75
, Issue.4
, pp. 535-544
-
-
Goldgar, D.E.1
Easton, D.F.2
Deffenbaugh, A.M.3
Monteiro, A.N.4
Tavtigian, S.V.5
Couch, F.J.6
-
44
-
-
2542543477
-
Structure-based assessment of missense mutations in human BRCA1: Implications for breast and ovarian cancer predisposition
-
Mirkovic N, Marti-Renom MA, Weber BL, Sali A, Monteiro AN (2004) Structure-based assessment of missense mutations in human BRCA1: implications for breast and ovarian cancer predisposition. Cancer Res 64(11):3790-3797.
-
(2004)
Cancer Res
, vol.64
, Issue.11
, pp. 3790-3797
-
-
Mirkovic, N.1
Marti-Renom, M.A.2
Weber, B.L.3
Sali, A.4
Monteiro, A.N.5
-
45
-
-
77953796463
-
Comprehensive analysis of missense variations in the BRCT domain of BRCA1 by structural and functional assays
-
Lee MS, Green R, Marsillac SM, Coquelle N, Williams RS, Yeung T, Foo D, Hau DD, Hui B, Monteiro AN, Glover JN (2010) Comprehensive analysis of missense variations in the BRCT domain of BRCA1 by structural and functional assays. Cancer Res 70(12):4880-4890.
-
(2010)
Cancer Res
, vol.70
, Issue.12
, pp. 4880-4890
-
-
Lee, M.S.1
Green, R.2
Marsillac, S.M.3
Coquelle, N.4
Williams, R.S.5
Yeung, T.6
Foo, D.7
Hau, D.D.8
Hui, B.9
Monteiro, A.N.10
Glover, J.N.11
-
46
-
-
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 (2006) Comprehensive statistical study of 452 BRCA1 missense substitutions with classification of eight recurrent substitutions as neutral. J Med Genet 43(4):295-305.
-
(2006)
J Med Genet
, vol.43
, Issue.4
, 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
-
47
-
-
77956331627
-
Integrating common and rare genetic variation in diverse human populations
-
Altshuler DM, Gibbs RA, Peltonen L, Altshuler DM, Gibbs RA, Peltonen L, Dermitzakis E, Schaffner SF, Yu F, Peltonen L, Dermitzakis E, Bonnen PE, Altshuler DM, Gibbs RA, de Bakker PI, Deloukas P, Gabriel SB, Gwilliam R, Hunt S, Inouye M, Jia X, Palotie A, Parkin M, Whittaker P, Yu F, Chang K, Hawes A, Lewis LR, Ren Y, Wheeler D et al (2010) Integrating common and rare genetic variation in diverse human populations. Nature 467(7311):52-58.
-
(2010)
Nature
, vol.467
, Issue.7311
, pp. 52-58
-
-
Altshuler, D.M.1
Gibbs, R.A.2
Peltonen, L.3
Altshuler, D.M.4
Gibbs, R.A.5
Peltonen, L.6
Dermitzakis, E.7
Schaffner, S.F.8
Yu, F.9
Peltonen, L.10
Dermitzakis, E.11
Bonnen, P.E.12
Altshuler, D.M.13
Gibbs, R.A.14
de Bakker, P.I.15
Deloukas, P.16
Gabriel, S.B.17
Gwilliam, R.18
Hunt, S.19
Inouye, M.20
Jia, X.21
Palotie, A.22
Parkin, M.23
Whittaker, P.24
Yu, F.25
Chang, K.26
Hawes, A.27
Lewis, L.R.28
Ren, Y.29
Wheeler, D.30
more..
-
48
-
-
0142054687
-
Shared genetic susceptibility to breast cancer, brain tumors, and Fanconi anemia
-
Offit K, Levran O, Mullaney B, Mah K, Nafa K, Batish SD, Diotti R, Schneider H, Deffenbaugh A, Scholl T, Proud VK, Robson M, Norton L, Ellis N, Hanenberg H, Auerbach AD (2003) Shared genetic susceptibility to breast cancer, brain tumors, and Fanconi anemia. J Natl Cancer Inst 95(20):1548-1551.
-
(2003)
J Natl Cancer Inst
, vol.95
, Issue.20
, pp. 1548-1551
-
-
Offit, K.1
Levran, O.2
Mullaney, B.3
Mah, K.4
Nafa, K.5
Batish, S.D.6
Diotti, R.7
Schneider, H.8
Deffenbaugh, A.9
Scholl, T.10
Proud, V.K.11
Robson, M.12
Norton, L.13
Ellis, N.14
Hanenberg, H.15
Auerbach, A.D.16
-
49
-
-
4444266965
-
First genotype characterization of Argentinean FAP patients: Identification of 14 novel APC mutations
-
De Rosa M, Dourisboure RJ, Morelli G, Graziano A, Gutierrez A, Thibodeau S, Halling K, Avila KC, Duraturo F, Podesta EJ, Izzo P, Solano AR (2004) First genotype characterization of Argentinean FAP patients: identification of 14 novel APC mutations. Hum Mutat 23(5):523-524.
-
(2004)
Hum Mutat
, vol.23
, Issue.5
, pp. 523-524
-
-
de Rosa, M.1
Dourisboure, R.J.2
Morelli, G.3
Graziano, A.4
Gutierrez, A.5
Thibodeau, S.6
Halling, K.7
Avila, K.C.8
Duraturo, F.9
Podesta, E.J.10
Izzo, P.11
Solano, A.R.12
-
50
-
-
32944478180
-
Microsatellite instability analysis in hereditary non-polyposis colon cancer using the Bethesda consensus panel of microsatellite markers in the absence of proband normal tissue
-
Chialina SG, Fornes C, Landi C, de la Vega Elena CD, Nicolorich MV, Dourisboure RJ, Solano A, Solis EA (2006) Microsatellite instability analysis in hereditary non-polyposis colon cancer using the Bethesda consensus panel of microsatellite markers in the absence of proband normal tissue. BMC Med Genet 7:5.
-
(2006)
BMC Med Genet
, vol.7
, pp. 5
-
-
Chialina, S.G.1
Fornes, C.2
Landi, C.3
de la Vega, E.C.D.4
Nicolorich, M.V.5
Dourisboure, R.J.6
Solano, A.7
Solis, E.A.8
-
51
-
-
23644441629
-
Penetrance and clinical manifestations of non-hotspot germline RET mutation, C630R, in a family with medullary thyroid carcinoma
-
Dourisboure RJ, Belli S, Domenichini E, Podesta EJ, Eng C, Solano AR (2005) Penetrance and clinical manifestations of non-hotspot germline RET mutation, C630R, in a family with medullary thyroid carcinoma. Thyroid 15 (7):668-671.
-
(2005)
Thyroid
, vol.15
, Issue.7
, pp. 668-671
-
-
Dourisboure, R.J.1
Belli, S.2
Domenichini, E.3
Podesta, E.J.4
Eng, C.5
Solano, A.R.6
-
52
-
-
79958124129
-
Family history, BRCA mutations and breast cancer in Vietnamese women
-
Ginsburg OM, Dinh NV, To TV, Quang LH, Linh ND, Duong BT, Royer R, Llacuachaqui M, Tulman A, Vichodez G, Li S, Love RR, Narod SA (2010) Family history, BRCA mutations and breast cancer in Vietnamese women. Clin Genet 80(1):89-92.
-
(2010)
Clin Genet
, vol.80
, Issue.1
, pp. 89-92
-
-
Ginsburg, O.M.1
Dinh, N.V.2
To, T.V.3
Quang, L.H.4
Linh, N.D.5
Duong, B.T.6
Royer, R.7
Llacuachaqui, M.8
Tulman, A.9
Vichodez, G.10
Li, S.11
Love, R.R.12
Narod, S.A.13
-
53
-
-
79951810477
-
On the origin and diffusion of BRCA1 c.5266dupC (5382insC) in European populations
-
Hamel N, Feng BJ, Foretova L, Stoppa-Lyonnet D, Narod SA, Imyanitov E, Sinilnikova O, Tihomirova L, Lubinski J, Gronwald J, Gorski B, Hansen TO, Nielsen FC, Thomassen M, Yannoukakos D, Konstantopoulou I, Zajac V, Ciernikova S, Couch FJ, Greenwood CM, Goldgar DE, Foulkes WD (2010) On the origin and diffusion of BRCA1 c.5266dupC (5382insC) in European populations. Eur J Hum Genet 19(3):300-306.
-
(2010)
Eur J Hum Genet
, vol.19
, Issue.3
, pp. 300-306
-
-
Hamel, N.1
Feng, B.J.2
Foretova, L.3
Stoppa-Lyonnet, D.4
Narod, S.A.5
Imyanitov, E.6
Sinilnikova, O.7
Tihomirova, L.8
Lubinski, J.9
Gronwald, J.10
Gorski, B.11
Hansen, T.O.12
Nielsen, F.C.13
Thomassen, M.14
Yannoukakos, D.15
Konstantopoulou, I.16
Zajac, V.17
Ciernikova, S.18
Couch, F.J.19
Greenwood, C.M.20
Goldgar, D.E.21
Foulkes, W.D.22
more..
-
54
-
-
84858296064
-
BRCA1 and BRCA2 germline mutations in 85 Iranian breast cancer patients
-
Keshavarzi F, Javadi GR, Zeinali S (2012) BRCA1 and BRCA2 germline mutations in 85 Iranian breast cancer patients. Fam Cancer 11(1):57-67.
-
(2012)
Fam Cancer
, vol.11
, Issue.1
, pp. 57-67
-
-
Keshavarzi, F.1
Javadi, G.R.2
Zeinali, S.3
-
55
-
-
50549096296
-
Novel sequence variants and a high frequency of recurrent polymorphisms in BRCA1 gene in Sri Lankan breast cancer patients and at risk individuals
-
De Silva W, Karunanayake EH, Tennekoon KH, Allen M, Amarasinghe I, Angunawala P, Ziard MH (2008) Novel sequence variants and a high frequency of recurrent polymorphisms in BRCA1 gene in Sri Lankan breast cancer patients and at risk individuals. BMC Cancer 8:214.
-
(2008)
BMC Cancer
, vol.8
, pp. 214
-
-
de Silva, W.1
Karunanayake, E.H.2
Tennekoon, K.H.3
Allen, M.4
Amarasinghe, I.5
Angunawala, P.6
Ziard, M.H.7
-
56
-
-
43249105056
-
Clinical classification of BRCA1 and BRCA2 DNA sequence variants: The value of cytokeratin profiles and evolutionary analysis-a report from the kConFab Investigators
-
Spurdle AB, Lakhani SR, Healey S, Parry S, Da Silva LM, Brinkworth R, Hopper JL, Brown MA, Babikyan D, Chenevix-Trench G, Tavtigian SV, Goldgar DE (2008) Clinical classification of BRCA1 and BRCA2 DNA sequence variants: the value of cytokeratin profiles and evolutionary analysis-a report from the kConFab Investigators. J Clin Oncol 26(10):1657-1663.
-
(2008)
J Clin Oncol
, vol.26
, Issue.10
, pp. 1657-1663
-
-
Spurdle, A.B.1
Lakhani, S.R.2
Healey, S.3
Parry, S.4
da Silva, L.M.5
Brinkworth, R.6
Hopper, J.L.7
Brown, M.A.8
Babikyan, D.9
Chenevix-Trench, G.10
Tavtigian, S.V.11
Goldgar, D.E.12
-
57
-
-
27544483543
-
Application of embryonic lethal or other obvious phenotypes to characterize the clinical significance of genetic variants found in trans with known deleterious mutations
-
Judkins T, Hendrickson BC, Deffenbaugh AM, Eliason K, Leclair B, Norton MJ, Ward BE, Pruss D, Scholl T (2005) Application of embryonic lethal or other obvious phenotypes to characterize the clinical significance of genetic variants found in trans with known deleterious mutations. Cancer Res 65(21):10096-10103.
-
(2005)
Cancer Res
, vol.65
, Issue.21
, pp. 10096-10103
-
-
Judkins, T.1
Hendrickson, B.C.2
Deffenbaugh, A.M.3
Eliason, K.4
Leclair, B.5
Norton, M.J.6
Ward, B.E.7
Pruss, D.8
Scholl, T.9
-
58
-
-
1942501693
-
BRCA1 and BRCA2 germline mutation spectrum and frequencies in Belgian breast/ovarian cancer families
-
Claes K, Poppe B, Coene I, Paepe AD, Messiaen L (2004) BRCA1 and BRCA2 germline mutation spectrum and frequencies in Belgian breast/ovarian cancer families. Br J Cancer 90(6):1244-1251.
-
(2004)
Br J Cancer
, vol.90
, Issue.6
, pp. 1244-1251
-
-
Claes, K.1
Poppe, B.2
Coene, I.3
Paepe, A.D.4
Messiaen, L.5
-
59
-
-
0011980209
-
BRCA1 and BRCA2 sequence variants in Chinese breast cancer families
-
Zhi X, Szabo C, Chopin S, Suter N, Wang QS, Ostrander EA, Sinilnikova OM, Lenoir GM, Goldgar D, Shi YR (2002) BRCA1 and BRCA2 sequence variants in Chinese breast cancer families. Hum Mutat 20(6):474
-
(2002)
Hum Mutat
, vol.20
, Issue.6
, pp. 474
-
-
Zhi, X.1
Szabo, C.2
Chopin, S.3
Suter, N.4
Wang, Q.S.5
Ostrander, E.A.6
Sinilnikova, O.M.7
Lenoir, G.M.8
Goldgar, D.9
Shi, Y.R.10
|