-
1
-
-
84863783292
-
Familial breast cancer
-
Lalloo F, Evans DG. Familial breast cancer. Clin Genet 2012: 82: 105-114.
-
(2012)
Clin Genet
, vol.82
, pp. 105-114
-
-
Lalloo, F.1
Evans, D.G.2
-
2
-
-
0033740880
-
Prevalence and penetrance of BRCA1 and BRCA2 mutations in a population-based series of breast cancer cases
-
Anglian Breast Cancer Study Group.
-
Anglian Breast Cancer Study Group. Prevalence and penetrance of BRCA1 and BRCA2 mutations in a population-based series of breast cancer cases. Br J Cancer 2000: 83: 1301-1308.
-
(2000)
Br J Cancer
, vol.83
, pp. 1301-1308
-
-
-
3
-
-
0033281771
-
How many more breast cancer predisposition genes are there?
-
Easton DF. How many more breast cancer predisposition genes are there? Breast Cancer Res 1999: 1: 14-17.
-
(1999)
Breast Cancer Res
, vol.1
, pp. 14-17
-
-
Easton, D.F.1
-
4
-
-
0033516265
-
Prevalence of BRCA1 and BRCA2 gene mutations in patients with early-onset breast cancer
-
Peto J, Collins N, Barfoot R et al. Prevalence of BRCA1 and BRCA2 gene mutations in patients with early-onset breast cancer. J Natl Cancer Inst 1999: 91: 943-949.
-
(1999)
J Natl Cancer Inst
, vol.91
, pp. 943-949
-
-
Peto, J.1
Collins, N.2
Barfoot, R.3
-
5
-
-
84885844597
-
-
Breast Cancer infromation Core. Retrieved July 12, 2013
-
Breast Cancer infromation Core. Retrieved July 12, 2013 http://research.nhgri.nih.gov/projects/bic/index.shtml.
-
-
-
-
6
-
-
0036123926
-
Variation in BRCA1 cancer risks by mutation position
-
Thompson D, Easton D. Variation in BRCA1 cancer risks by mutation position. Cancer Epidemiol Biomarkers Prev 2002: 11: 329-336.
-
(2002)
Cancer Epidemiol Biomarkers Prev
, vol.11
, pp. 329-336
-
-
Thompson, D.1
Easton, D.2
-
7
-
-
0035125062
-
Variation in cancer risks, by mutation position, in BRCA2 mutation carriers
-
Thompson D, Easton D. Variation in cancer risks, by mutation position, in BRCA2 mutation carriers. Am J Hum Genet 2001: 68: 410-419.
-
(2001)
Am J Hum Genet
, vol.68
, pp. 410-419
-
-
Thompson, D.1
Easton, D.2
-
8
-
-
84875703379
-
Large-scale genotyping identifies 41 new loci associated with breast cancer risk
-
Michailidou K, Hall P, Gonzalez-Neira A et al. Large-scale genotyping identifies 41 new loci associated with breast cancer risk. Nat Genet 2013: 45: 353-2.
-
(2013)
Nat Genet
, vol.45
, pp. 353-352
-
-
Michailidou, K.1
Hall, P.2
Gonzalez-Neira, A.3
-
9
-
-
84866329098
-
BRCA1 R1699Q variant displaying ambiguous functional abrogation confers intermediate breast and ovarian cancer risk
-
Spurdle AB, Whiley PJ, Thompson B et al. BRCA1 R1699Q variant displaying ambiguous functional abrogation confers intermediate breast and ovarian cancer risk. J Med Genet 2012: 49: 525-532.
-
(2012)
J Med Genet
, vol.49
, pp. 525-532
-
-
Spurdle, A.B.1
Whiley, P.J.2
Thompson, B.3
-
10
-
-
0025633582
-
Germ line p53 mutations in a familial syndrome of breast cancer, sarcomas, and other neoplasms
-
Malkin D, Li FP, Strong LC et al. Germ line p53 mutations in a familial syndrome of breast cancer, sarcomas, and other neoplasms. Science 1990: 250: 1233-1238.
-
(1990)
Science
, vol.250
, pp. 1233-1238
-
-
Malkin, D.1
Li, F.P.2
Strong, L.C.3
-
11
-
-
8544247944
-
Germline mutations in the PTEN/MMAC1 gene in patients with Cowden disease
-
Nelen MR, van Staveren WC, Peeters EA et al. Germline mutations in the PTEN/MMAC1 gene in patients with Cowden disease. Hum Mol Genet 1997: 6: 1383-1387.
-
(1997)
Hum Mol Genet
, vol.6
, pp. 1383-1387
-
-
Nelen, M.R.1
van Staveren, W.C.2
Peeters, E.A.3
-
12
-
-
0032495530
-
A serine/threonine kinase gene defective in Peutz-Jeghers syndrome
-
Hemminki A, Markie D, Tomlinson I et al. A serine/threonine kinase gene defective in Peutz-Jeghers syndrome. Nature 1998: 391: 184-187.
-
(1998)
Nature
, vol.391
, pp. 184-187
-
-
Hemminki, A.1
Markie, D.2
Tomlinson, I.3
-
13
-
-
0031974516
-
Peutz-Jeghers syndrome is caused by mutations in a novel serine threonine kinase
-
Jenne DE, Reimann H, Nezu J et al. Peutz-Jeghers syndrome is caused by mutations in a novel serine threonine kinase. Nat Genet 1998: 18: 38-43.
-
(1998)
Nat Genet
, vol.18
, pp. 38-43
-
-
Jenne, D.E.1
Reimann, H.2
Nezu, J.3
-
14
-
-
0032568370
-
E-cadherin germline mutations in familial gastric cancer
-
Guilford P, Hopkins J, Harraway J et al. E-cadherin germline mutations in familial gastric cancer. Nature 1998: 392: 402-405.
-
(1998)
Nature
, vol.392
, pp. 402-405
-
-
Guilford, P.1
Hopkins, J.2
Harraway, J.3
-
15
-
-
0032806475
-
Diffuse type gastric and lobular breast carcinoma in a familial gastric cancer patient with an E-cadherin germline mutation
-
Keller G, Vogelsang H, Becker I et al. Diffuse type gastric and lobular breast carcinoma in a familial gastric cancer patient with an E-cadherin germline mutation. Am J Pathol 1999: 155: 337-342.
-
(1999)
Am J Pathol
, vol.155
, pp. 337-342
-
-
Keller, G.1
Vogelsang, H.2
Becker, I.3
-
16
-
-
0035211026
-
Incidence of gastric cancer and breast cancer in CDH1 (E-cadherin) mutation carriers from hereditary diffuse gastric cancer families
-
International Gastric Cancer Linkage Consortium.
-
Pharoah PD, Guilford P, Caldas C; International Gastric Cancer Linkage Consortium. Incidence of gastric cancer and breast cancer in CDH1 (E-cadherin) mutation carriers from hereditary diffuse gastric cancer families. Gastroenterology 2001: 121: 1348-1353.
-
(2001)
Gastroenterology
, vol.121
, pp. 1348-1353
-
-
Pharoah, P.D.1
Guilford, P.2
Caldas, C.3
-
17
-
-
70449532098
-
The prevalence of germ-line TP53 mutations in women diagnosed with breast cancer before age 30
-
Ginsburg OM, Akbari MR, Aziz Z et al. The prevalence of germ-line TP53 mutations in women diagnosed with breast cancer before age 30. Fam Cancer 2009: 8: 563-567.
-
(2009)
Fam Cancer
, vol.8
, pp. 563-567
-
-
Ginsburg, O.M.1
Akbari, M.R.2
Aziz, Z.3
-
18
-
-
17744396894
-
Germline TP53 alterations in Finnish breast cancer families are rare and occur at conserved mutation-prone sites
-
Rapakko K, Allinen M, Syrjakoski K et al. Germline TP53 alterations in Finnish breast cancer families are rare and occur at conserved mutation-prone sites. Br J Cancer 2001: 84: 116-119.
-
(2001)
Br J Cancer
, vol.84
, pp. 116-119
-
-
Rapakko, K.1
Allinen, M.2
Syrjakoski, K.3
-
19
-
-
15644379587
-
Germline mutations in PTEN are an infrequent cause of genetic predisposition to breast cancer
-
FitzGerald MG, Marsh DJ, Wahrer D et al. Germline mutations in PTEN are an infrequent cause of genetic predisposition to breast cancer. Oncogene 1998: 17: 727-731.
-
(1998)
Oncogene
, vol.17
, pp. 727-731
-
-
FitzGerald, M.G.1
Marsh, D.J.2
Wahrer, D.3
-
20
-
-
77955861787
-
Evaluation of the contribution of the three breast cancer susceptibility genes CHEK2, STK11, and PALB2 in non-BRCA1/2 French Canadian families with high risk of breast cancer
-
Guenard F, Pedneault CS, Ouellette G et al. Evaluation of the contribution of the three breast cancer susceptibility genes CHEK2, STK11, and PALB2 in non-BRCA1/2 French Canadian families with high risk of breast cancer. Genet Test Mol Biomarkers 2010: 14: 515-526.
-
(2010)
Genet Test Mol Biomarkers
, vol.14
, pp. 515-526
-
-
Guenard, F.1
Pedneault, C.S.2
Ouellette, G.3
-
21
-
-
78751704485
-
Germline mutations in CDH1 are infrequent in women with early-onset or familial lobular breast cancers
-
Schrader KA, Masciari S, Boyd N et al. Germline mutations in CDH1 are infrequent in women with early-onset or familial lobular breast cancers. J Med Genet 2011: 48: 64-68.
-
(2011)
J Med Genet
, vol.48
, pp. 64-68
-
-
Schrader, K.A.1
Masciari, S.2
Boyd, N.3
-
22
-
-
0026409331
-
Incidence of cancer in 161 families affected by ataxia-telangiectasia
-
Swift M, Morrell D, Massey RB, Chase CL. Incidence of cancer in 161 families affected by ataxia-telangiectasia. N Engl J Med 1991: 325: 1831-1836.
-
(1991)
N Engl J Med
, vol.325
, pp. 1831-1836
-
-
Swift, M.1
Morrell, D.2
Massey, R.B.3
Chase, C.L.4
-
23
-
-
77952600845
-
Susceptibility pathways in Fanconi's anemia and breast cancer
-
D'Andrea AD. Susceptibility pathways in Fanconi's anemia and breast cancer. N Engl J Med 2010: 362: 1909-1919.
-
(2010)
N Engl J Med
, vol.362
, pp. 1909-1919
-
-
D'Andrea, A.D.1
-
24
-
-
33746491583
-
ATM mutations that cause ataxia-telangiectasia are breast cancer susceptibility alleles
-
Renwick A, Thompson D, Seal S et al. ATM mutations that cause ataxia-telangiectasia are breast cancer susceptibility alleles. Nat Genet 2006: 38: 873-875.
-
(2006)
Nat Genet
, vol.38
, pp. 873-875
-
-
Renwick, A.1
Thompson, D.2
Seal, S.3
-
25
-
-
18544389716
-
Low-penetrance susceptibility to breast cancer due to CHEK2(*)1100delC in noncarriers of BRCA1 or BRCA2 mutations
-
Meijers-Heijboer H, van den Ouweland A, Klijn J et al. Low-penetrance susceptibility to breast cancer due to CHEK2(*)1100delC in noncarriers of BRCA1 or BRCA2 mutations. Nat Genet 2002: 31: 55-59.
-
(2002)
Nat Genet
, vol.31
, pp. 55-59
-
-
Meijers-Heijboer, H.1
van den Ouweland, A.2
Klijn, J.3
-
26
-
-
33750465216
-
Truncating mutations in the Fanconi anemia J gene BRIP1 are low-penetrance breast cancer susceptibility alleles
-
Seal S, Thompson D, Renwick A et al. Truncating mutations in the Fanconi anemia J gene BRIP1 are low-penetrance breast cancer susceptibility alleles. Nat Genet 2006: 38: 1239-1241.
-
(2006)
Nat Genet
, vol.38
, pp. 1239-1241
-
-
Seal, S.1
Thompson, D.2
Renwick, A.3
-
27
-
-
33846625493
-
PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene
-
Rahman N, Seal S, Thompson D et al. PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene. Nat Genet 2007: 39: 165-167.
-
(2007)
Nat Genet
, vol.39
, pp. 165-167
-
-
Rahman, N.1
Seal, S.2
Thompson, D.3
-
28
-
-
33745225487
-
Germline mutations 657del5 of the NBS1 gene contribute significantly to the incidence of breast cancer in Central Poland
-
Steffen J, Nowakowska D, Niwinska A et al. Germline mutations 657del5 of the NBS1 gene contribute significantly to the incidence of breast cancer in Central Poland. Int J Cancer 2006: 119: 472-475.
-
(2006)
Int J Cancer
, vol.119
, pp. 472-475
-
-
Steffen, J.1
Nowakowska, D.2
Niwinska, A.3
-
29
-
-
84857488162
-
Breast cancer-associated Abraxas mutation disrupts nuclear localization and DNA damage response functions
-
Solyom S, Aressy B, Pylkas K et al. Breast cancer-associated Abraxas mutation disrupts nuclear localization and DNA damage response functions. Sci Transl Med 2012: 4: 122-123.
-
(2012)
Sci Transl Med
, vol.4
, pp. 122-123
-
-
Solyom, S.1
Aressy, B.2
Pylkas, K.3
-
30
-
-
77149149958
-
Cancer predisposing missense and protein truncating BARD1 mutations in non-BRCA1 or BRCA2 breast cancer families
-
De Brakeleer S, De Grève J, Loris R et al. Cancer predisposing missense and protein truncating BARD1 mutations in non-BRCA1 or BRCA2 breast cancer families. Hum Mutat 2010: 31: E1175-E1185.
-
(2010)
Hum Mutat
, vol.31
-
-
De Brakeleer, S.1
De Grève, J.2
Loris, R.3
-
31
-
-
84856210264
-
Cancer predisposing BARD1 mutations in breast-ovarian cancer families
-
Ratajska M, Antoszewska E, Piskorz A et al. Cancer predisposing BARD1 mutations in breast-ovarian cancer families. Breast Cancer Res Treat 2012: 131: 89-97.
-
(2012)
Breast Cancer Res Treat
, vol.131
, pp. 89-97
-
-
Ratajska, M.1
Antoszewska, E.2
Piskorz, A.3
-
32
-
-
77951720395
-
Germline mutations in breast and ovarian cancer pedigrees establish RAD51C as a human cancer susceptibility gene
-
Meindl A, Hellebrand H, Wiek C et al. Germline mutations in breast and ovarian cancer pedigrees establish RAD51C as a human cancer susceptibility gene. Nat Genet 2010: 42: 410-414.
-
(2010)
Nat Genet
, vol.42
, pp. 410-414
-
-
Meindl, A.1
Hellebrand, H.2
Wiek, C.3
-
33
-
-
56649086648
-
Aberrations of the MRE11-RAD50-NBS1 DNA damage sensor complex in human breast cancer: MRE11 as a candidate familial cancer-predisposing gene
-
Bartkova J, Tommiska J, Oplustilova L et al. Aberrations of the MRE11-RAD50-NBS1 DNA damage sensor complex in human breast cancer: MRE11 as a candidate familial cancer-predisposing gene. Mol Oncol 2008: 2: 296-316.
-
(2008)
Mol Oncol
, vol.2
, pp. 296-316
-
-
Bartkova, J.1
Tommiska, J.2
Oplustilova, L.3
-
34
-
-
33747884830
-
RAD50 and NBS1 are breast cancer susceptibility genes associated with genomic instability
-
Heikkinen K, Rapakko K, Karppinen SM et al. RAD50 and NBS1 are breast cancer susceptibility genes associated with genomic instability. Carcinogenesis 2006: 27: 1593-1599.
-
(2006)
Carcinogenesis
, vol.27
, pp. 1593-1599
-
-
Heikkinen, K.1
Rapakko, K.2
Karppinen, S.M.3
-
35
-
-
80053259851
-
RAD51C germline mutations in breast and ovarian cancer cases from high-risk families
-
Clague J, Wilhoite G, Adamson A, Bailis A, Weitzel JN, Neuhausen SL. RAD51C germline mutations in breast and ovarian cancer cases from high-risk families. PLoS One 2011: 6: e25632.
-
(2011)
PLoS One
, vol.6
-
-
Clague, J.1
Wilhoite, G.2
Adamson, A.3
Bailis, A.4
Weitzel, J.N.5
Neuhausen, S.L.6
-
36
-
-
84860345647
-
Evaluation of RAD51C as cancer susceptibility gene in a large breast-ovarian cancer patient population referred for genetic testing
-
De Leeneer K, Van Bockstal M, De Brouwer S et al. Evaluation of RAD51C as cancer susceptibility gene in a large breast-ovarian cancer patient population referred for genetic testing. Breast Cancer Res Treat 2012: 133: 393-398.
-
(2012)
Breast Cancer Res Treat
, vol.133
, pp. 393-398
-
-
De Leeneer, K.1
Van Bockstal, M.2
De Brouwer, S.3
-
37
-
-
51649107113
-
BARD1 variants are not associated with breast cancer risk in Australian familial breast cancer
-
Gorringe KL, Choong DY, Visvader JE, Lindeman GJ, Campbell IG. BARD1 variants are not associated with breast cancer risk in Australian familial breast cancer. Breast Cancer Res Treat 2008: 111: 505-509.
-
(2008)
Breast Cancer Res Treat
, vol.111
, pp. 505-509
-
-
Gorringe, K.L.1
Choong, D.Y.2
Visvader, J.E.3
Lindeman, G.J.4
Campbell, I.G.5
-
38
-
-
84857691595
-
Analysis of RAD51C germline mutations in high-risk breast and ovarian cancer families and ovarian cancer patients
-
Thompson ER, Boyle SE, Johnson J et al. Analysis of RAD51C germline mutations in high-risk breast and ovarian cancer families and ovarian cancer patients. Hum Mutat 2012: 33: 95-99.
-
(2012)
Hum Mutat
, vol.33
, pp. 95-99
-
-
Thompson, E.R.1
Boyle, S.E.2
Johnson, J.3
-
39
-
-
78649319824
-
Screening RAD51C nucleotide alterations in patients with a family history of breast and ovarian cancer
-
Zheng Y, Zhang J, Hope K, Niu Q, Huo D, Olopade OI. Screening RAD51C nucleotide alterations in patients with a family history of breast and ovarian cancer. Breast Cancer Res Treat 2010: 124: 857-861.
-
(2010)
Breast Cancer Res Treat
, vol.124
, pp. 857-861
-
-
Zheng, Y.1
Zhang, J.2
Hope, K.3
Niu, Q.4
Huo, D.5
Olopade, O.I.6
-
40
-
-
60549106496
-
Rad50 c.687delT does not contribute significantly to familial breast cancer in a French population
-
Uhrhammer N, Delort L, Bignon YJ. Rad50 c.687delT does not contribute significantly to familial breast cancer in a French population. Cancer Epidemiol Biomarkers Prev 2009: 18: 684-685.
-
(2009)
Cancer Epidemiol Biomarkers Prev
, vol.18
, pp. 684-685
-
-
Uhrhammer, N.1
Delort, L.2
Bignon, Y.J.3
-
41
-
-
33646372196
-
Evaluation of RAD50 in familial breast cancer predisposition
-
Tommiska J, Seal S, Renwick A et al. Evaluation of RAD50 in familial breast cancer predisposition. Int J Cancer 2006: 118: 2911-2916.
-
(2006)
Int J Cancer
, vol.118
, pp. 2911-2916
-
-
Tommiska, J.1
Seal, S.2
Renwick, A.3
-
42
-
-
84860320440
-
Germline RAD51C mutations confer susceptibility to ovarian cancer
-
Loveday C, Turnbull C, Ruark E et al. Germline RAD51C mutations confer susceptibility to ovarian cancer. Nat Genet 2012: 44: 475-476.
-
(2012)
Nat Genet
, vol.44
, pp. 475-476
-
-
Loveday, C.1
Turnbull, C.2
Ruark, E.3
-
43
-
-
0034936364
-
Evidence for further breast cancer susceptibility genes in addition to BRCA1 and BRCA2 in a population-based study
-
Antoniou AC, Pharoah PD, McMullan G, Day NE, Ponder BA, Easton D. Evidence for further breast cancer susceptibility genes in addition to BRCA1 and BRCA2 in a population-based study. Genet Epidemiol 2001: 21: 1-18.
-
(2001)
Genet Epidemiol
, vol.21
, pp. 1-18
-
-
Antoniou, A.C.1
Pharoah, P.D.2
McMullan, G.3
Day, N.E.4
Ponder, B.A.5
Easton, D.6
-
44
-
-
0037033733
-
A comprehensive model for familial breast cancer incorporating BRCA1, BRCA2 and other genes
-
Antoniou AC, Pharoah PD, McMullan G et al. A comprehensive model for familial breast cancer incorporating BRCA1, BRCA2 and other genes. Br J Cancer 2002: 86: 76-83.
-
(2002)
Br J Cancer
, vol.86
, pp. 76-83
-
-
Antoniou, A.C.1
Pharoah, P.D.2
McMullan, G.3
-
45
-
-
0035130162
-
After BRCA1 and BRCA2-what next? Multifactorial segregation analyses of three-generation, population-based Australian families affected by female breast cancer
-
Cui J, Antoniou AC, Dite GS et al. After BRCA1 and BRCA2-what next? Multifactorial segregation analyses of three-generation, population-based Australian families affected by female breast cancer. Am J Hum Genet 2001: 68: 420-431.
-
(2001)
Am J Hum Genet
, vol.68
, pp. 420-431
-
-
Cui, J.1
Antoniou, A.C.2
Dite, G.S.3
-
46
-
-
84860817223
-
Recent explosive human population growth has resulted in an excess of rare genetic variants
-
Keinan A, Clark AG. Recent explosive human population growth has resulted in an excess of rare genetic variants. Science 2012: 336: 740-743.
-
(2012)
Science
, vol.336
, pp. 740-743
-
-
Keinan, A.1
Clark, A.G.2
-
47
-
-
84875735063
-
Evidence of gene-environment interactions between common breast cancer susceptibility loci and established environmental risk factors
-
Nickels S, Truong T, Hein R et al. Evidence of gene-environment interactions between common breast cancer susceptibility loci and established environmental risk factors. PLoS Genet 2013: 9: e1003284.
-
(2013)
PLoS Genet
, vol.9
-
-
Nickels, S.1
Truong, T.2
Hein, R.3
-
48
-
-
79551621885
-
Genetic modifiers of cancer risk for BRCA1 and BRCA2 mutation carriers
-
Milne RL, Antoniou AC. Genetic modifiers of cancer risk for BRCA1 and BRCA2 mutation carriers. Ann Oncol 2011: 22 (Suppl. 1): i11-i17.
-
(2011)
Ann Oncol
, vol.22
, Issue.SUPPL. 1
-
-
Milne, R.L.1
Antoniou, A.C.2
-
49
-
-
84873696289
-
Whole exome sequencing suggests much of non-BRCA1/BRCA2 familial breast cancer is due to moderate and low penetrance susceptibility alleles
-
Gracia-Aznarez FJ, Fernandez V, Pita G et al. Whole exome sequencing suggests much of non-BRCA1/BRCA2 familial breast cancer is due to moderate and low penetrance susceptibility alleles. PLoS One 2013: 8: e55681.
-
(2013)
PLoS One
, vol.8
-
-
Gracia-Aznarez, F.J.1
Fernandez, V.2
Pita, G.3
-
50
-
-
84873160825
-
Exome sequencing of germline DNA from non-BRCA1/2 familial breast cancer cases selected on the basis of aCGH tumor profiling
-
Hilbers FS, Meijers CM, Laros JF et al. Exome sequencing of germline DNA from non-BRCA1/2 familial breast cancer cases selected on the basis of aCGH tumor profiling. PLoS One 2013: 8: e55734.
-
(2013)
PLoS One
, vol.8
-
-
Hilbers, F.S.1
Meijers, C.M.2
Laros, J.F.3
-
51
-
-
82255191753
-
FAN1 variants identified in multiple-case early-onset breast cancer families via exome sequencing: no evidence for association with risk for breast cancer
-
Park DJ, Odefrey FA, Hammet F et al. FAN1 variants identified in multiple-case early-onset breast cancer families via exome sequencing: no evidence for association with risk for breast cancer. Breast Cancer Res Treat 2011: 130: 1043-1049.
-
(2011)
Breast Cancer Res Treat
, vol.130
, pp. 1043-1049
-
-
Park, D.J.1
Odefrey, F.A.2
Hammet, F.3
-
52
-
-
84859479737
-
Rare mutations in XRCC2 increase the risk of breast cancer
-
Park DJ, Lesueur F, Nguyen-Dumont T et al. Rare mutations in XRCC2 increase the risk of breast cancer. Am J Hum Genet 2012: 90: 734-739.
-
(2012)
Am J Hum Genet
, vol.90
, pp. 734-739
-
-
Park, D.J.1
Lesueur, F.2
Nguyen-Dumont, T.3
-
53
-
-
84866932831
-
Exome sequencing identifies rare deleterious mutations in DNA repair genes FANCC and BLM as potential breast cancer susceptibility alleles
-
Thompson ER, Doyle MA, Ryland GL et al. Exome sequencing identifies rare deleterious mutations in DNA repair genes FANCC and BLM as potential breast cancer susceptibility alleles. PLoS Genet 2012: 8: e1002894.
-
(2012)
PLoS Genet
, vol.8
-
-
Thompson, E.R.1
Doyle, M.A.2
Ryland, G.L.3
-
54
-
-
18444362122
-
Biallelic inactivation of BRCA2 in Fanconi anemia
-
Howlett NG, Taniguchi T, Olson S et al. Biallelic inactivation of BRCA2 in Fanconi anemia. Science 2002: 297: 606-609.
-
(2002)
Science
, vol.297
, pp. 606-609
-
-
Howlett, N.G.1
Taniguchi, T.2
Olson, S.3
-
55
-
-
35148853561
-
Genetic heterogeneity among Fanconi anemia heterozygotes and risk of cancer
-
Berwick M, Satagopan JM, Ben-Porat L et al. Genetic heterogeneity among Fanconi anemia heterozygotes and risk of cancer. Cancer Res 2007: 67: 9591-9596.
-
(2007)
Cancer Res
, vol.67
, pp. 9591-9596
-
-
Berwick, M.1
Satagopan, J.M.2
Ben-Porat, L.3
-
56
-
-
70849132066
-
Mutational analysis of FANCL, FANCM and the recently identified FANCI suggests that among the 13 known Fanconi Anemia genes, only FANCD1/BRCA2 plays a major role in high-risk breast cancer predisposition
-
Garcia MJ, Fernandez V, Osorio A et al. Mutational analysis of FANCL, FANCM and the recently identified FANCI suggests that among the 13 known Fanconi Anemia genes, only FANCD1/BRCA2 plays a major role in high-risk breast cancer predisposition. Carcinogenesis 2009: 30: 1898-1902.
-
(2009)
Carcinogenesis
, vol.30
, pp. 1898-1902
-
-
Garcia, M.J.1
Fernandez, V.2
Osorio, A.3
-
57
-
-
84859484153
-
Exome sequencing reveals a novel Fanconi group defined by XRCC2 mutation
-
Shamseldin HE, Elfaki M, Alkuraya FS. Exome sequencing reveals a novel Fanconi group defined by XRCC2 mutation. J Med Genet 2012: 49: 184-186.
-
(2012)
J Med Genet
, vol.49
, pp. 184-186
-
-
Shamseldin, H.E.1
Elfaki, M.2
Alkuraya, F.S.3
-
58
-
-
84870256911
-
Rare variants in XRCC2 as breast cancer susceptibility alleles
-
Hilbers FS, Wijnen JT, Hoogerbrugge N et al. Rare variants in XRCC2 as breast cancer susceptibility alleles. J Med Genet 2012: 49: 618-620.
-
(2012)
J Med Genet
, vol.49
, pp. 618-620
-
-
Hilbers, F.S.1
Wijnen, J.T.2
Hoogerbrugge, N.3
-
59
-
-
0037211288
-
No mutations in the XRCC2 gene in BRCA1/2-negative high-risk breast cancer families
-
Rodriguez-Lopez R, Osorio A, Sanchez-Pulido L et al. No mutations in the XRCC2 gene in BRCA1/2-negative high-risk breast cancer families. Int J Cancer 2003: 103: 136-137.
-
(2003)
Int J Cancer
, vol.103
, pp. 136-137
-
-
Rodriguez-Lopez, R.1
Osorio, A.2
Sanchez-Pulido, L.3
-
60
-
-
0028785586
-
The Bloom's syndrome gene product is homologous to RecQ helicases
-
Ellis NA, Groden J, Ye TZ et al. The Bloom's syndrome gene product is homologous to RecQ helicases. Cell 1995: 83: 655-666.
-
(1995)
Cell
, vol.83
, pp. 655-666
-
-
Ellis, N.A.1
Groden, J.2
Ye, T.Z.3
-
61
-
-
84880630260
-
Nonsense mutation p.Q548X in BLM, the gene mutated in Bloom's syndrome, is associated with breast cancer in Slavic populations
-
Prokofyeva D, Bogdanova N, Dubrowinskaja N et al. Nonsense mutation p.Q548X in BLM, the gene mutated in Bloom's syndrome, is associated with breast cancer in Slavic populations. Breast Cancer Res Treat 2013: 137: 533-539.
-
(2013)
Breast Cancer Res Treat
, vol.137
, pp. 533-539
-
-
Prokofyeva, D.1
Bogdanova, N.2
Dubrowinskaja, N.3
-
62
-
-
84859884724
-
High prevalence and breast cancer predisposing role of the BLM c.1642 C>T (Q548X) mutation in Russia
-
Sokolenko AP, Iyevleva AG, Preobrazhenskaya EV et al. High prevalence and breast cancer predisposing role of the BLM c.1642 C>T (Q548X) mutation in Russia. Int J Cancer 2012: 130: 2867-2873.
-
(2012)
Int J Cancer
, vol.130
, pp. 2867-2873
-
-
Sokolenko, A.P.1
Iyevleva, A.G.2
Preobrazhenskaya, E.V.3
-
63
-
-
0344953576
-
Heterozygosity for the BLM(Ash) mutation and cancer risk
-
Cleary SP, Zhang W, Di NN et al. Heterozygosity for the BLM(Ash) mutation and cancer risk. Cancer Res 2003: 63: 1769-1771.
-
(2003)
Cancer Res
, vol.63
, pp. 1769-1771
-
-
Cleary, S.P.1
Zhang, W.2
Di, N.N.3
-
64
-
-
37849046203
-
Prevalence of breast and colorectal cancer in Ashkenazi Jewish carriers of Fanconi anemia and Bloom syndrome
-
Baris HN, Kedar I, Halpern GJ et al. Prevalence of breast and colorectal cancer in Ashkenazi Jewish carriers of Fanconi anemia and Bloom syndrome. Isr Med Assoc J 2007: 9: 847-850.
-
(2007)
Isr Med Assoc J
, vol.9
, pp. 847-850
-
-
Baris, H.N.1
Kedar, I.2
Halpern, G.J.3
-
65
-
-
84872621246
-
Mosaic PPM1D mutations are associated with predisposition to breast and ovarian cancer
-
Ruark E, Snape K, Humburg P et al. Mosaic PPM1D mutations are associated with predisposition to breast and ovarian cancer. Nature 2013: 493: 406-410.
-
(2013)
Nature
, vol.493
, pp. 406-410
-
-
Ruark, E.1
Snape, K.2
Humburg, P.3
-
66
-
-
84879780529
-
COMPLEXO: identifying the missing heritability of breast cancer via next generation collaboration
-
Southey MC, Park DJ, Nguyen-Dumont T et al. COMPLEXO: identifying the missing heritability of breast cancer via next generation collaboration. Breast Cancer Res 2013: 15: 402.
-
(2013)
Breast Cancer Res
, vol.15
, pp. 402
-
-
Southey, M.C.1
Park, D.J.2
Nguyen-Dumont, T.3
-
67
-
-
12244264435
-
Genetic Power Calculator: design of linkage and association genetic mapping studies of complex traits
-
Purcell S, Cherny SS, Sham PC. Genetic Power Calculator: design of linkage and association genetic mapping studies of complex traits. Bioinformatics 2003: 19: 149-150.
-
(2003)
Bioinformatics
, vol.19
, pp. 149-150
-
-
Purcell, S.1
Cherny, S.S.2
Sham, P.C.3
-
68
-
-
79955478110
-
Frequencies of BRCA1 and BRCA2 mutations among 1,342 unselected patients with invasive ovarian cancer
-
Zhang S, Royer R, Li S et al. Frequencies of BRCA1 and BRCA2 mutations among 1, 342 unselected patients with invasive ovarian cancer. Gynecol Oncol 2011: 121: 353-357.
-
(2011)
Gynecol Oncol
, vol.121
, pp. 353-357
-
-
Zhang, S.1
Royer, R.2
Li, S.3
-
69
-
-
29144509766
-
BRCA1 and BRCA2 mutations account for a large proportion of ovarian carcinoma cases
-
Pal T, Permuth-Wey J, Betts JA et al. BRCA1 and BRCA2 mutations account for a large proportion of ovarian carcinoma cases. Cancer 2005: 104: 2807-2816.
-
(2005)
Cancer
, vol.104
, pp. 2807-2816
-
-
Pal, T.1
Permuth-Wey, J.2
Betts, J.A.3
-
70
-
-
80054973810
-
Mutations in BRIP1 confer high risk of ovarian cancer
-
Rafnar T, Gudbjartsson DF, Sulem P et al. Mutations in BRIP1 confer high risk of ovarian cancer. Nat Genet 2011: 43: 1104-1107.
-
(2011)
Nat Genet
, vol.43
, pp. 1104-1107
-
-
Rafnar, T.1
Gudbjartsson, D.F.2
Sulem, P.3
-
71
-
-
7044237350
-
In silico prediction of the deleterious effect of a mutation: proceed with caution in clinical genetics
-
Tchernitchko D, Goossens M, Wajcman H. In silico prediction of the deleterious effect of a mutation: proceed with caution in clinical genetics. Clin Chem 2004: 50: 1974-1978.
-
(2004)
Clin Chem
, vol.50
, pp. 1974-1978
-
-
Tchernitchko, D.1
Goossens, M.2
Wajcman, H.3
-
75
-
-
84863532805
-
Predominance of pathogenic missense variants in the RAD51C gene occurring in breast and ovarian cancer families
-
Osorio A, Endt D, Fernandez F et al. Predominance of pathogenic missense variants in the RAD51C gene occurring in breast and ovarian cancer families. Hum Mol Genet 2012: 21: 2889-2898.
-
(2012)
Hum Mol Genet
, vol.21
, pp. 2889-2898
-
-
Osorio, A.1
Endt, D.2
Fernandez, F.3
-
76
-
-
84861747135
-
Response to DNA damage of CHEK2 missense mutations in familial breast cancer
-
Roeb W, Higgins J, King MC. Response to DNA damage of CHEK2 missense mutations in familial breast cancer. Hum Mol Genet 2012: 21: 2738-2744.
-
(2012)
Hum Mol Genet
, vol.21
, pp. 2738-2744
-
-
Roeb, W.1
Higgins, J.2
King, M.C.3
-
77
-
-
36248979794
-
Genetic and functional analysis of CHEK2 (CHK2) variants in multiethnic cohorts
-
Bell DW, Kim SH, Godwin AK et al. Genetic and functional analysis of CHEK2 (CHK2) variants in multiethnic cohorts. Int J Cancer 2007: 121: 2661-2667.
-
(2007)
Int J Cancer
, vol.121
, pp. 2661-2667
-
-
Bell, D.W.1
Kim, S.H.2
Godwin, A.K.3
-
78
-
-
14044272193
-
Functional and genomic approaches reveal an ancient CHEK2 allele associated with breast cancer in the Ashkenazi Jewish population
-
Shaag A, Walsh T, Renbaum P et al. Functional and genomic approaches reveal an ancient CHEK2 allele associated with breast cancer in the Ashkenazi Jewish population. Hum Mol Genet 2005: 14: 555-563.
-
(2005)
Hum Mol Genet
, vol.14
, pp. 555-563
-
-
Shaag, A.1
Walsh, T.2
Renbaum, P.3
-
79
-
-
0037154221
-
Missense mutations but not allelic variants alter the function of ATM by dominant interference in patients with breast cancer
-
Scott SP, Bendix R, Chen P, Clark R, Dork T, Lavin MF. Missense mutations but not allelic variants alter the function of ATM by dominant interference in patients with breast cancer. Proc Natl Acad Sci U S A 2002: 99: 925-930.
-
(2002)
Proc Natl Acad Sci U S A
, vol.99
, pp. 925-930
-
-
Scott, S.P.1
Bendix, R.2
Chen, P.3
Clark, R.4
Dork, T.5
Lavin, M.F.6
-
80
-
-
0015043748
-
Mutation and cancer: statistical study of retinoblastoma
-
Knudson AG Jr. Mutation and cancer: statistical study of retinoblastoma. Proc Natl Acad Sci U S A 1971: 68: 820-823.
-
(1971)
Proc Natl Acad Sci U S A
, vol.68
, pp. 820-823
-
-
Knudson Jr, A.G.1
-
81
-
-
0024299571
-
Cancer. Gene losses in human tumours
-
Ponder B. Cancer. Gene losses in human tumours. Nature 1988: 335: 400-402.
-
(1988)
Nature
, vol.335
, pp. 400-402
-
-
Ponder, B.1
-
82
-
-
0029007696
-
Consistent loss of the wild type allele in breast cancers from a family linked to the BRCA2 gene on chromosome 13q12-13
-
Collins N, McManus R, Wooster R et al. Consistent loss of the wild type allele in breast cancers from a family linked to the BRCA2 gene on chromosome 13q12-13. Oncogene 1995: 10: 1673-1675.
-
(1995)
Oncogene
, vol.10
, pp. 1673-1675
-
-
Collins, N.1
McManus, R.2
Wooster, R.3
-
83
-
-
0028819984
-
Different tumor types from BRCA2 carriers show wild-type chromosome deletions on 13q12-q13
-
Gudmundsson J, Johannesdottir G, Bergthorsson JT et al. Different tumor types from BRCA2 carriers show wild-type chromosome deletions on 13q12-q13. Cancer Res 1995: 55: 4830-4832.
-
(1995)
Cancer Res
, vol.55
, pp. 4830-4832
-
-
Gudmundsson, J.1
Johannesdottir, G.2
Bergthorsson, J.T.3
-
84
-
-
0037052688
-
Loss of heterozygosity analysis at the BRCA loci in tumor samples from patients with familial breast cancer
-
Osorio A, de la Hoya M, Rodriguez-Lopez R et al. 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
Rodriguez-Lopez, R.3
-
85
-
-
78650874810
-
Prevalence and predictors of loss of wild type BRCA1 in estrogen receptor positive and negative BRCA1-associated breast cancers
-
Tung N, Miron A, Schnitt SJ et al. Prevalence and predictors of loss of wild type BRCA1 in estrogen receptor positive and negative BRCA1-associated breast cancers. Breast Cancer Res 2010: 12: R95.
-
(2010)
Breast Cancer Res
, vol.12
-
-
Tung, N.1
Miron, A.2
Schnitt, S.J.3
-
86
-
-
0033911566
-
ATM-heterozygous germline mutations contribute to breast cancer-susceptibility
-
Broeks A, Urbanus JH, Floore AN et al. ATM-heterozygous germline mutations contribute to breast cancer-susceptibility. Am J Hum Genet 2000: 66: 494-500.
-
(2000)
Am J Hum Genet
, vol.66
, pp. 494-500
-
-
Broeks, A.1
Urbanus, J.H.2
Floore, A.N.3
-
87
-
-
68249158091
-
A simple method for co-segregation analysis to evaluate the pathogenicity of unclassified variants; BRCA1 and BRCA2 as an example
-
Mohammadi L, Vreeswijk MP, Oldenburg R et al. A simple method for co-segregation analysis to evaluate the pathogenicity of unclassified variants; BRCA1 and BRCA2 as an example. BMC Cancer 2009: 9: 211.
-
(2009)
BMC Cancer
, vol.9
, pp. 211
-
-
Mohammadi, L.1
Vreeswijk, M.P.2
Oldenburg, R.3
-
88
-
-
84857691697
-
ENIGMA--evidence-based network for the interpretation of germline mutant alleles: an international initiative to evaluate risk and clinical significance associated with sequence variation in BRCA1 and BRCA2 genes
-
Spurdle AB, Healey S, Devereau A et al. ENIGMA--evidence-based network for the interpretation of germline mutant alleles: an international initiative to evaluate risk and clinical significance associated with sequence variation in BRCA1 and BRCA2 genes. Hum Mutat 2012: 33: 2-7.
-
(2012)
Hum Mutat
, vol.33
, pp. 2-7
-
-
Spurdle, A.B.1
Healey, S.2
Devereau, A.3
-
89
-
-
84876071726
-
Multiplex genetic testing for cancer susceptibility: out on the high wire without a net?
-
Domchek SM, Bradbury A, Garber JE, Offit K, Robson ME. Multiplex genetic testing for cancer susceptibility: out on the high wire without a net? J Clin Oncol 2013: 31: 1267-1270.
-
(2013)
J Clin Oncol
, vol.31
, pp. 1267-1270
-
-
Domchek, S.M.1
Bradbury, A.2
Garber, J.E.3
Offit, K.4
Robson, M.E.5
-
90
-
-
0037087536
-
Clinical characteristics of individuals with germline mutations in BRCA1 and BRCA2: analysis of 10,000 individuals
-
Frank TS, Deffenbaugh AM, Reid JE et al. Clinical characteristics of individuals with germline mutations in BRCA1 and BRCA2: analysis of 10, 000 individuals. J Clin Oncol 2002: 20: 1480-1490.
-
(2002)
J Clin Oncol
, vol.20
, pp. 1480-1490
-
-
Frank, T.S.1
Deffenbaugh, A.M.2
Reid, J.E.3
|