-
1
-
-
0028113345
-
A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1
-
Miki Y, Swensen J, Shattuck-Eidens D et al (1994) A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1. Science 266:66-71
-
(1994)
Science
, vol.266
, pp. 66-71
-
-
Miki, Y.1
Swensen, J.2
Shattuck-Eidens, D.3
-
2
-
-
17344365851
-
Genetic heterogenicity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families
-
and Breast Cancer linkage Consortium
-
Ford D, Easton DF, Stratton M et al and Breast Cancer linkage Consortium (1998) Genetic heterogenicity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. Am J Hum Genet 62:676-689
-
(1998)
Am J Hum Genet
, vol.62
, pp. 676-689
-
-
Ford, D.1
Easton, D.F.2
Stratton, M.3
-
3
-
-
0036578764
-
Polygenic susceptibility to breast cancer and implications for prevention
-
Pharoah PD, Antoniou A, Bobrow M et al (2002) Polygenic susceptibility to breast cancer and implications for prevention. Nat Genet 31:33-36
-
(2002)
Nat Genet
, vol.31
, pp. 33-36
-
-
Pharoah, P.D.1
Antoniou, A.2
Bobrow, M.3
-
4
-
-
0031031787
-
From BRCA1 to Rap1: A widespread BRCT module closely associated with DNA repair
-
1
-
Callebaut I, Mornon JP. (1997) From BRCA1 to Rap1: a widespread BRCT module closely associated with DNA repair. FEBS Lett 400(1):25-30
-
(1997)
FEBS Lett
, vol.400
, pp. 25-30
-
-
Callebaut, I.1
Mornon, J.P.2
-
5
-
-
0037130889
-
Cancer risk estimates for BRCA1 mutation carriers identifìed in a risk evaluation program
-
Brose MS, Rebbeck TR, Calzone KA et al (2002) Cancer risk estimates for BRCA1 mutation carriers identifìed in a risk evaluation program. J Natl Cancer Inst 9418:1365-1372
-
(2002)
J Natl Cancer Inst
, vol.9418
, pp. 1365-1372
-
-
Brose, M.S.1
Rebbeck, T.R.2
Calzone, K.A.3
-
6
-
-
0028330276
-
Breast Cancer Linkage Consortium
-
Ford D, Easton DF, Bishop DT et al (1994) Breast Cancer Linkage Consortium. Lancet 343:692-695
-
(1994)
Lancet
, vol.343
, pp. 692-695
-
-
Ford, D.1
Easton, D.F.2
Bishop, D.T.3
-
7
-
-
0033198067
-
The genetic epidemiology of male breast carcinoma
-
5
-
Lynch HT, Watson P, Narod SA (1999) The genetic epidemiology of male breast carcinoma. Cancer 86(5):744-746
-
(1999)
Cancer
, vol.86
, pp. 744-746
-
-
Lynch, H.T.1
Watson, P.2
Narod, S.A.3
-
8
-
-
1242271223
-
Epidemiology of breast cancer among BRCA mutation carriers: An overview
-
Nkondjock A, Ghadirian P. (2004) Epidemiology of breast cancer among BRCA mutation carriers: an overview. Cancer Lett 2051:1-8
-
(2004)
Cancer Lett
, vol.2051
, pp. 1-8
-
-
Nkondjock, A.1
Ghadirian, P.2
-
9
-
-
0029009749
-
Mutation analysis of the BRCA1 gene in ovarian cancers
-
Takahashi H, Behbakht K, McGovern PE et al (1995) Mutation analysis of the BRCA1 gene in ovarian cancers. Cancer Res 55:2998-3002
-
(1995)
Cancer Res
, vol.55
, pp. 2998-3002
-
-
Takahashi, H.1
Behbakht, K.2
McGovern, P.E.3
-
10
-
-
13744256264
-
Breast cancer risks for BRCA1/2 carriers
-
Easton DF, Hopper JL, Thomas DC et al (2004) Breast cancer risks for BRCA1/2 carriers. Science 306:2187-2188
-
(2004)
Science
, vol.306
, pp. 2187-2188
-
-
Easton, D.F.1
Hopper, J.L.2
Thomas, D.C.3
-
11
-
-
0038744296
-
Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case series unselected for family history: A combined analysis of 22 studies
-
5
-
Antoniou A, Pharoah PD, Narod S et al (2003) Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case series unselected for family history: a combined analysis of 22 studies. Am J Hum Genet 72(5):1117-1130
-
(2003)
Am J Hum Genet
, vol.72
, pp. 1117-1130
-
-
Antoniou, A.1
Pharoah, P.D.2
Narod, S.3
-
12
-
-
7744225684
-
)Penetrance of breast ad ovarian cancer in a large series of families tested for BRCA1/2 mutations
-
Marroni F, Aretini P, D'Andrea E et al (2004 )Penetrance of breast ad ovarian cancer in a large series of families tested for BRCA1/2 mutations. Eur J Hum Genet 12:899-906
-
(2004)
Eur J Hum Genet
, vol.12
, pp. 899-906
-
-
Marroni, F.1
Aretini, P.2
D'Andrea, E.3
-
13
-
-
85084273956
-
Genetic alteration in hereditary breast cancer
-
Cipollini G, Tommasi S, Paradiso A et al (2004) Genetic alteration in hereditary breast cancer. Ann Oncol 15:7-13
-
(2004)
Ann Oncol
, vol.15
, pp. 7-13
-
-
Cipollini, G.1
Tommasi, S.2
Paradiso, A.3
-
14
-
-
0030902227
-
Population genetics of BRCA1 and BRCA2
-
Szabo CI, King MC. (1997) Population genetics of BRCA1 and BRCA2. Am J Hum Genet 60:1013-1020
-
(1997)
Am J Hum Genet
, vol.60
, pp. 1013-1020
-
-
Szabo, C.I.1
King, M.C.2
-
15
-
-
16944365091
-
A high proportion of novel mutations in BRCA1 with strong founder effects among Dutch and Belgian hereditary breast and ovarian cancer families
-
Peelen T, van Vliet M, Petrij-Bosch A et al (1997). A high proportion of novel mutations in BRCA1 with strong founder effects among Dutch and Belgian hereditary breast and ovarian cancer families. Am J Hum Genet 60:1041-1049
-
(1997)
Am J Hum Genet
, vol.60
, pp. 1041-1049
-
-
Peelen, T.1
Van Vliet, M.2
Petrij-Bosch, A.3
-
16
-
-
0034813329
-
A founder mutation of the BRCA1 gene in Western Sweden associated with a high incidence of breast and ovarian cancer
-
Einbeigi Z, Bergman A, Kindblom LG et al (2001) A founder mutation of the BRCA1 gene in Western Sweden associated with a high incidence of breast and ovarian cancer. Eur J Cancer 37:1904-1909
-
(2001)
Eur J Cancer
, vol.37
, pp. 1904-1909
-
-
Einbeigi, Z.1
Bergman, A.2
Kindblom, L.G.3
-
17
-
-
0033950773
-
Identification of a founder BRCA2 mutation in Sardinia
-
Pisano M, Cossu A, Persico I et al (2000) Identification of a founder BRCA2 mutation in Sardinia. Br J Cancer 82:553-559
-
(2000)
Br J Cancer
, vol.82
, pp. 553-559
-
-
Pisano, M.1
Cossu, A.2
Persico, I.3
-
18
-
-
0035434628
-
Of a founder mutation of BRCA1 gene in a highly homogeneous population from southern Italy with breast/ ovarian cancer
-
Baudi F, Quaresima B, Grandinetti C et al (2001)Evidence of a founder mutation of BRCA1 gene in a highly homogeneous population from southern Italy with breast/ ovarian cancer. Hum Mut 18:163-164
-
(2001)
Hum Mut
, vol.18
, pp. 163-164
-
-
Baudi, F.1
Quaresima, B.2
Grandinetti, C.3
-
19
-
-
35349001523
-
-
Breast Cancer Information Core (BIC) Retrived from
-
Breast Cancer Information Core (BIC) (2002) An open access on line breast cancer mutation database. Retrived from http://www.hhgri.nih.gov/ Intramural_transfer/Bic/
-
(2002)
An Open Access on Line Breast Cancer Mutation Database
-
-
-
20
-
-
17044371510
-
Single nucleotide polymorphisms in clinical genetic testing: The characterization of the clinical significance of genetic variants and their application in clinical research for BRCA1
-
Judkins T, Hendrickson BC, Deffenbaugh MA et al (2005) Single nucleotide polymorphisms in clinical genetic testing: the characterization of the clinical significance of genetic variants and their application in clinical research for BRCA1. Mut Res 573:168-179
-
(2005)
Mut Res
, vol.573
, pp. 168-179
-
-
Judkins, T.1
Hendrickson, B.C.2
Deffenbaugh, M.A.3
-
21
-
-
4544336084
-
Breast Cancer Information Core (BIC) Sterring Committee. Integrated evaluation of DNA sequence variants of unknown clinical significance: Application to BRCA1 and BRCA2
-
Goldgard DE, Easton DF, Deffenbaugh AM et al (2004) Breast Cancer Information Core (BIC) Sterring Committee. Integrated evaluation of DNA sequence variants of unknown clinical significance: application to BRCA1 and BRCA2. Am J Hum Genet 75:535-544
-
(2004)
Am J Hum Genet
, vol.75
, pp. 535-544
-
-
Goldgard, D.E.1
Easton, D.F.2
Deffenbaugh, A.M.3
-
22
-
-
35349007289
-
Classification of BRCA1 missense variants of unknown clinical significance
-
Phelan CM, Dapic V, Tice B et al (2004) Classification of BRCA1 missense variants of unknown clinical significance. Am J Hum Genet 75:535-544
-
(2004)
Am J Hum Genet
, vol.75
, pp. 535-544
-
-
Phelan, C.M.1
Dapic, V.2
Tice, B.3
-
23
-
-
0029864134
-
Statement of the American Society of Clinical Oncology, genetic testing for cancer susceptibility, Adopted on Febbruary 20, 1996
-
ASCO
-
ASCO (1996) Statement of the American Society of Clinical Oncology, genetic testing for cancer susceptibility, Adopted on Febbruary 20, 1996. J Clin Oncol 14:1730-1740
-
(1996)
J Clin Oncol
, vol.14
, pp. 1730-1740
-
-
-
24
-
-
0038501057
-
American Society of Clinical Oncology policy statement update: Genetic testing for cancer susceptibility
-
ASCO
-
ASCO (2003) American Society of Clinical Oncology policy statement update: genetic testing for cancer susceptibility. J Clin Oncol 21:2397-2406
-
(2003)
J Clin Oncol
, vol.21
, pp. 2397-2406
-
-
-
25
-
-
0028034348
-
Confirmation of BRCA 1 by analysis of germline mutations linked to breast and ovarian cancer in ten families
-
Friedman LS, Ostermeyer EA, Szabo CI et al (1994) Confirmation of BRCA 1 by analysis of germline mutations linked to breast and ovarian cancer in ten families. Nat Genet 8:399-404
-
(1994)
Nat Genet
, vol.8
, pp. 399-404
-
-
Friedman, L.S.1
Ostermeyer, E.A.2
Szabo, C.I.3
-
26
-
-
10244267577
-
BRCA1 germline mutation spectrum in Italian families from Tuscany: A high frequency of novel mutations
-
Caligo MA, Ghimenti C, Cipollini G et al (1996) BRCA1 germline mutation spectrum in Italian families from Tuscany: a high frequency of novel mutations. Oncogene 13:1483-1488.
-
(1996)
Oncogene
, vol.13
, pp. 1483-1488
-
-
Caligo, M.A.1
Ghimenti, C.2
Cipollini, G.3
-
27
-
-
0031612929
-
Recommendations for a nomenclature system for human gene mutations. Nomenclature Working Group
-
1
-
Antonarakis SE. (1998) Recommendations for a nomenclature system for human gene mutations. Nomenclature Working Group. Hum Mutat 11(1):1-3
-
(1998)
Hum Mutat
, vol.11
, pp. 1-3
-
-
Antonarakis, S.E.1
-
28
-
-
33646368674
-
TP53 and p16INK4A, but not H-KI-Ras, are involved in tumorigenesis and progression of pleomorphic adenomas
-
3
-
Augello C, Gregorio V, Bazan V et al (2006) TP53 and p16INK4A, but not H-KI-Ras, are involved in tumorigenesis and progression of pleomorphic adenomas. J Cell Physiol Jun 207(3):654-659
-
(2006)
J Cell Physiol Jun
, vol.207
, pp. 654-659
-
-
Augello, C.1
Gregorio, V.2
Bazan, V.3
-
29
-
-
17744378150
-
BRCA1 and BRCA2 mutations in central and southern Italian patients
-
Ottini L, D'Amico C, Noviello C et al (2000) BRCA1 and BRCA2 mutations in central and southern Italian patients. Breast Cancer Res 2:307-310
-
(2000)
Breast Cancer Res
, vol.2
, pp. 307-310
-
-
Ottini, L.1
D'Amico, C.2
Noviello, C.3
-
30
-
-
0033987956
-
Comparison between genotype and phenotype identifies a high-risk population carryng BRCA1 mutations
-
Cortesi L, Turchetti D, Bertoni C, et al (2000) Comparison between genotype and phenotype identifies a high-risk population carryng BRCA1 mutations. Genes Chromosomes Cancer 27:130-135
-
(2000)
Genes Chromosomes Cancer
, vol.27
, pp. 130-135
-
-
Cortesi, L.1
Turchetti, D.2
Bertoni, C.3
-
31
-
-
0033820798
-
BRCA1 mutations and clinicopathological features in a sample of Italian women with early-onset breast cancer
-
Turchetti D, Cortesi L, Federico M et al (2000) BRCA1 mutations and clinicopathological features in a sample of Italian women with early-onset breast cancer. Eur J Cancer 36:2083-2089
-
(2000)
Eur J Cancer
, vol.36
, pp. 2083-2089
-
-
Turchetti, D.1
Cortesi, L.2
Federico, M.3
-
32
-
-
0032565074
-
BRCA1 mutations and breast cancer in the general population: Analyses in women before age 35 years and in women before 45 years with first-degree family hystory
-
Malone KE, Daling JR, Thompson JD et al (1998) BRCA1 mutations and breast cancer in the general population: analyses in women before age 35 years and in women before 45 years with first-degree family hystory. J Am Med Assoc 279:922-929
-
(1998)
J Am Med Assoc
, vol.279
, pp. 922-929
-
-
Malone, K.E.1
Daling, J.R.2
Thompson, J.D.3
-
33
-
-
33745614094
-
BRCA1 and BRCA2 genetic testing in Italian breast and/or ovarian cancer families: Mutation spectrum and prevalence and analysis of mutation prediction models
-
7
-
Capalbo C, Ricevuto E, Vestri A et al (2006) BRCA1 and BRCA2 genetic testing in Italian breast and/or ovarian cancer families: mutation spectrum and prevalence and analysis of mutation prediction models. Ann Oncol; 17(7):vii34-vii40
-
(2006)
Ann Oncol;
, vol.17
-
-
Capalbo, C.1
Ricevuto, E.2
Vestri, A.3
-
34
-
-
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, Masback A et al (2004) One in 10 ovarian cancer patients carry germ line BRCA1 or BRCA2 mutations: results of a prospective study in Southern Sweden. Eur J Cancer 40:422-428
-
(2004)
Eur J Cancer
, vol.40
, pp. 422-428
-
-
Malander, S.1
Ridderheim, M.2
Masback, A.3
-
35
-
-
9444248601
-
High prevalence of the 999del5 mutation in Icelandic breast cancer patients
-
Johannesdottir G, Gudmundsson J, Bergthorsson JT et al (1996) High prevalence of the 999del5 mutation in Icelandic breast cancer patients. Cancer Res 56:3663-3665
-
(1996)
Cancer Res
, vol.56
, pp. 3663-3665
-
-
Johannesdottir, G.1
Gudmundsson, J.2
Bergthorsson, J.T.3
-
36
-
-
0033365067
-
Founder BRCA1/2mutations among male patients with breast cancer in Israel
-
Struewing JP, Coriaty ZM, Ron E et al (1999) Founder BRCA1/2mutations among male patients with breast cancer in Israel. Am J Hum Genet 65:1800-1802
-
(1999)
Am J Hum Genet
, vol.65
, pp. 1800-1802
-
-
Struewing, J.P.1
Coriaty, Z.M.2
Ron, E.3
-
37
-
-
18344412542
-
BRCA1 and BRCA2 mutations in a population-based study of male breast cancer
-
1
-
Basham VM, Lipscombe JM, Ward JM et al (2002) BRCA1 and BRCA2 mutations in a population-based study of male breast cancer. Breast Cancer Res 4(1):R2
-
(2002)
Breast Cancer Res
, vol.4
, pp. 2
-
-
Basham, V.M.1
Lipscombe, J.M.2
Ward, J.M.3
-
38
-
-
0036466857
-
Association between BRCA1 and BRCA2 mutations and cancer phenotype in Spanish breast/ovarian cancer families: Implications for genetic testing
-
De La Hoya M, Osorio A, Godino J et al (2002) Association between BRCA1 and BRCA2 mutations and cancer phenotype in Spanish breast/ovarian cancer families: implications for genetic testing. Int J Cancer 97:466-471
-
(2002)
Int J Cancer
, vol.97
, pp. 466-471
-
-
De La Hoya, M.1
Osorio, A.2
Godino, J.3
-
39
-
-
0037439707
-
BRCA1 and BRCA2 mutation status and tumor characteristics in male breast cancer: A population-based study in Italy
-
Ottini L, Masala G, D'Amico C et al (2003) BRCA1 and BRCA2 mutation status and tumor characteristics in male breast cancer: a population-based study in Italy. Cancer Res 63:342-347
-
(2003)
Cancer Res
, vol.63
, pp. 342-347
-
-
Ottini, L.1
Masala, G.2
D'Amico, C.3
-
40
-
-
12144286236
-
Are medullary breast cancers an indication for BRCA1 mutation screening? a mutation analysis of 42 cases of medullary breast cancer
-
Iau PTC, M. Marafie A. Ali et al (2004) Are medullary breast cancers an indication for BRCA1 mutation screening? A mutation analysis of 42 cases of medullary breast cancer. Breast Cancer Res Treatment 85:81-88
-
(2004)
Breast Cancer Res Treatment
, vol.85
, pp. 81-88
-
-
Iau, P.T.C.1
Marafie Ali, M.A.2
-
41
-
-
7844247959
-
P53 mutations with frequent novel codons but not a mutator phenotype in BRCA1- and BRCA2- associated breast tumours
-
Crook T, Brooks LA, Crossland S et al (1998) P53 mutations with frequent novel codons but not a mutator phenotype in BRCA1- and BRCA2- associated breast tumours. Oncogene 17:1682-1689
-
(1998)
Oncogene
, vol.17
, pp. 1682-1689
-
-
Crook, T.1
Brooks, L.A.2
Crossland, S.3
-
42
-
-
0032522462
-
Mutations at BRCA1: The medullary breast carcinoma revisited
-
Eisinger F, Jacquemier J, Charpin C et al (1998) Mutations at BRCA1: the medullary breast carcinoma revisited. Cancer Res 58:1588-1592
-
(1998)
Cancer Res
, vol.58
, pp. 1588-1592
-
-
Eisinger, F.1
Jacquemier, J.2
Charpin, C.3
-
43
-
-
26844451916
-
Molecular and genealogical characterization of the R1443X BRCA1 mutation in high-risk French-Canadian breast-ovarian cancer families
-
Vezina H, Durocher F, Dumont M et al (2005) Molecular and genealogical characterization of the R1443X BRCA1 mutation in high-risk French-Canadian breast-ovarian cancer families. Hum Genet 117:119-132
-
(2005)
Hum Genet
, vol.117
, pp. 119-132
-
-
Vezina, H.1
Durocher, F.2
Dumont, M.3
-
44
-
-
3142662152
-
BRCA1 testing in breast ad/or ovarian cancer families from north-eastern France identifies two common mutations with a founder effect
-
Muller D, Bonaiti-Pellie C, Abecassis J et al (2004) BRCA1 testing in breast ad/or ovarian cancer families from north-eastern France identifies two common mutations with a founder effect. Familial Cancer 3:15-20
-
(2004)
Familial Cancer
, vol.3
, pp. 15-20
-
-
Muller, D.1
Bonaiti-Pellie, C.2
Abecassis, J.3
-
45
-
-
35348931442
-
A new germline mutation in a Sicilian family with ovarian cancer
-
Calo V, Agnese V, Gargano G et al (2005) A new germline mutation in a Sicilian family with ovarian cancer. Breast Cancer Res Treat 22:1-4
-
(2005)
Breast Cancer Res Treat
, vol.22
, pp. 1-4
-
-
Calo, V.1
Agnese, V.2
Gargano, G.3
-
46
-
-
32144463131
-
Genetic analysis of BRCA1 ubiquitin ligase activity and its relationship to breast cancer susceptibility
-
4
-
Morris JR, Pangon L, Boutell C et al (2006) Genetic analysis of BRCA1 ubiquitin ligase activity and its relationship to breast cancer susceptibility. Human Mol Genet 15(4):599-606
-
(2006)
Human Mol Genet
, vol.15
, pp. 599-606
-
-
Morris, J.R.1
Pangon, L.2
Boutell, C.3
-
47
-
-
0037417814
-
Understanding missense mutations in the BRCA1 gene: An evolutionary approach
-
3
-
Fleming MA, Potter JD, Ramirez CJ et al (2003) Understanding missense mutations in the BRCA1 gene: An evolutionary approach. PNAS 100(3):1151-1156
-
(2003)
PNAS
, vol.100
, pp. 1151-1156
-
-
Fleming, M.A.1
Potter, J.D.2
Ramirez, C.J.3
-
48
-
-
3142699826
-
Analysis of missense variation in human BRCA1 in the context of interspecific sequence variation
-
Abkevich V, Zharkikh A, Deffenbaugh AM et al (2004) Analysis of missense variation in human BRCA1 in the context of interspecific sequence variation. J Med Genet 41: 492-507
-
(2004)
J Med Genet
, vol.41
, pp. 492-507
-
-
Abkevich, V.1
Zharkikh, A.2
Deffenbaugh, A.M.3
-
49
-
-
33745621915
-
Y179C, F486L and N550H are BRCA1 variants that may be associated with breast cancer in a Sicilian family: Results of a 5-year GOIM (Gruppo Oncologico dell'Italia Meridionale) prospective study
-
Suppl 7
-
Augello C, Bruno L, Bazan V et al (2006) Y179C, F486L and N550H are BRCA1 variants that may be associated with breast cancer in a Sicilian family: results of a 5-year GOIM (Gruppo Oncologico dell'Italia Meridionale) prospective study. Ann Oncol 17(Suppl 7):vii30-vii33
-
(2006)
Ann Oncol
, vol.17
-
-
Augello, C.1
Bruno, L.2
Bazan, V.3
-
50
-
-
33644537810
-
Comprehensive statistical study of 452 BRCA1 missense substitutions with classification of eight recurrent substitutions as neutral
-
Tavtigian SV, Deffenbaugh AM, Yin L et al (2006) Comprehensive statistical study of 452 BRCA1 missense substitutions with classification of eight recurrent substitutions as neutral. J Med Genet 43:295-305
-
(2006)
J Med Genet
, vol.43
, pp. 295-305
-
-
Tavtigian, S.V.1
Deffenbaugh, A.M.2
Yin, L.3
|