-
1
-
-
58849092856
-
The c.156_157insAlu BRCA2 rearrangement accounts for more than one-fourth of deleterious BRCA mutations in northern/central Portugal
-
Peixoto A, Santos C, Rocha P et al. The c.156_157insAlu BRCA2 rearrangement accounts for more than one-fourth of deleterious BRCA mutations in northern/central Portugal. Breast Cancer Res Treat 2009: 114: 31-38.
-
(2009)
Breast Cancer Res Treat
, vol.114
, pp. 31-38
-
-
Peixoto, A.1
Santos, C.2
Rocha, P.3
-
2
-
-
79958280483
-
International distribution and age estimation of the Portuguese BRCA2 c.156_157insAlu founder mutation
-
Peixoto A, Santos C, Pinheiro M et al. International distribution and age estimation of the Portuguese BRCA2 c.156_157insAlu founder mutation. Breast Cancer Res Treat 2011: 127: 671-679.
-
(2011)
Breast Cancer Res Treat
, vol.127
, pp. 671-679
-
-
Peixoto, A.1
Santos, C.2
Pinheiro, M.3
-
3
-
-
33646035105
-
De novo Alu element insertions targeted to a sequence common to the BRCA1 and BRCA2 genes
-
Teugels E, De Brakeleer S, Goelen G, Lissens W, Sermijn E, De Greve J. De novo Alu element insertions targeted to a sequence common to the BRCA1 and BRCA2 genes. Hum Mutat 2005: 26: 284.
-
(2005)
Hum Mutat
, vol.26
, pp. 284
-
-
Teugels, E.1
De Brakeleer, S.2
Goelen, G.3
Lissens, W.4
Sermijn, E.5
De Greve, J.6
-
4
-
-
84876304580
-
Systematic detection of pathogenic alu element insertions in NGS-based diagnostic screens: the BRCA1/BRCA2 example
-
De Brakeleer S, De Greve J, Lissens W, Teugels E. Systematic detection of pathogenic alu element insertions in NGS-based diagnostic screens: the BRCA1/BRCA2 example. Hum Mutat 2013: 34: 785-791.
-
(2013)
Hum Mutat
, vol.34
, pp. 785-791
-
-
De Brakeleer, S.1
De Greve, J.2
Lissens, W.3
Teugels, E.4
-
5
-
-
34547131080
-
Multiplex SNaPshot for detection of BRCA1/2 common mutations in Spanish and Spanish related breast/ovarian cancer families
-
Filippini S, Blanco A, Fernandez-Marmiesse A et al. Multiplex SNaPshot for detection of BRCA1/2 common mutations in Spanish and Spanish related breast/ovarian cancer families. BMC Med Genet 2007: 8: 40.
-
(2007)
BMC Med Genet
, vol.8
, pp. 40
-
-
Filippini, S.1
Blanco, A.2
Fernandez-Marmiesse, A.3
-
6
-
-
33845528114
-
BRCA1 and BRCA2 germline mutational spectrum and evidence for genetic anticipation in Portuguese breast/ovarian cancer families
-
Peixoto A, Salgueiro N, Santos C et al. BRCA1 and BRCA2 germline mutational spectrum and evidence for genetic anticipation in Portuguese breast/ovarian cancer families. Fam Cancer 2006: 5: 379-387.
-
(2006)
Fam Cancer
, vol.5
, pp. 379-387
-
-
Peixoto, A.1
Salgueiro, N.2
Santos, C.3
-
7
-
-
84898799068
-
Pathogenicity evaluation of BRCA1 and BRCA2 unclassified variants identified in Portuguese breast/ovarian cancer families
-
Santos C, Peixoto A, Rocha P et al. Pathogenicity evaluation of BRCA1 and BRCA2 unclassified variants identified in Portuguese breast/ovarian cancer families. J Mol Diagn 2014: 16: 324-334.
-
(2014)
J Mol Diagn
, vol.16
, pp. 324-334
-
-
Santos, C.1
Peixoto, A.2
Rocha, P.3
-
8
-
-
0034164650
-
Frequency of germ-line BRCA1 mutations among Spanish families from a Mediterranean area
-
Blesa JR, Garcia JA, Ochoa E. Frequency of germ-line BRCA1 mutations among Spanish families from a Mediterranean area. Hum Mutat 2000: 15: 381-382.
-
(2000)
Hum Mutat
, vol.15
, pp. 381-382
-
-
Blesa, J.R.1
Garcia, J.A.2
Ochoa, E.3
-
9
-
-
0029908096
-
Mutation analysis of the BRCA1 gene in 23 families with cases of cancer of the breast, ovary, and multiple other sites
-
Durocher F, Tonin P, Shattuck-Eidens D, Skolnick M, Narod SA, 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: 814-819.
-
(1996)
J Med Genet
, vol.33
, pp. 814-819
-
-
Durocher, F.1
Tonin, P.2
Shattuck-Eidens, D.3
Skolnick, M.4
Narod, S.A.5
Simard, J.6
-
10
-
-
34249040579
-
High proportion of BRCA1/2 founder mutations in Hispanic breast/ovarian cancer families from Colombia
-
Torres D, Rashid MU, Gil F et al. High proportion of BRCA1/2 founder mutations in Hispanic breast/ovarian cancer families from Colombia. Breast Cancer Res Treat 2007: 103: 225-232.
-
(2007)
Breast Cancer Res Treat
, vol.103
, pp. 225-232
-
-
Torres, D.1
Rashid, M.U.2
Gil, F.3
-
11
-
-
80052695765
-
BRCA in breast cancer: ESMO Clinical Practice Guidelines
-
Balmana J, Diez O, Rubio IT, Cardoso F. BRCA in breast cancer: ESMO Clinical Practice Guidelines. Ann Oncol 2011: 22 (Suppl. 6): vi31-vi34.
-
(2011)
Ann Oncol
, vol.22
, pp. vi31-vi34
-
-
Balmana, J.1
Diez, O.2
Rubio, I.T.3
Cardoso, F.4
-
12
-
-
84862907494
-
Pathology of breast and ovarian cancers among BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA)
-
Mavaddat N, Barrowdale D, Andrulis IL et al. Pathology of breast and ovarian cancers among BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA). Cancer Epidemiol Biomarkers Prev 2012: 21: 134-147.
-
(2012)
Cancer Epidemiol Biomarkers Prev
, vol.21
, pp. 134-147
-
-
Mavaddat, N.1
Barrowdale, D.2
Andrulis, I.L.3
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