-
1
-
-
35148853561
-
Genetic heterogeneity among Fanconi anemia heterozygotes and risk of cancer
-
Berwick, M. et al. Genetic heterogeneity among Fanconi anemia heterozygotes and risk of cancer. Cancer Res 67, 9591-9596 (2007).
-
(2007)
Cancer Res
, vol.67
, pp. 9591-9596
-
-
Berwick, M.1
-
2
-
-
38449120192
-
Cancer risk of heterozygotes with the NBN founder mutation
-
Seemanova, E. et al. Cancer risk of heterozygotes with the NBN founder mutation. J Natl Cancer Inst 99, 1875-1880 (2007).
-
(2007)
J Natl Cancer Inst
, vol.99
, pp. 1875-1880
-
-
Seemanova, E.1
-
3
-
-
84866932831
-
Exome sequencing identifies rare deleterious mutations in DNA repair genes FANCC and BLM as potential breast cancer susceptibility alleles
-
Thompson, E. R. et al. Exome sequencing identifies rare deleterious mutations in DNA repair genes FANCC and BLM as potential breast cancer susceptibility alleles. PLoS Genet 8, e1002894 (2012).
-
(2012)
PLoS Genet
, vol.8
, pp. e1002894
-
-
Thompson, E.R.1
-
4
-
-
18544386262
-
BLM heterozygosity and the risk of colorectal cancer
-
Gruber, S. B. et al. BLM heterozygosity and the risk of colorectal cancer. Science 297, 2013 (2002).
-
(2002)
Science
, vol.297
, pp. 2013
-
-
Gruber, S.B.1
-
5
-
-
0344953576
-
Heterozygosity for the BLMAsh mutation and cancer risk
-
Cleary, S. P. et al. Heterozygosity for the BLMAsh mutation and cancer risk. Cancer Res 3, 1769-1771 (2003).
-
(2003)
Cancer Res
, vol.3
, pp. 1769-1771
-
-
Cleary, S.P.1
-
6
-
-
37849046203
-
Prevalence of breast and colorectal cancer in Ashkenazi Jewish carriers of Fanconi anemia and Bloom syndrome
-
Baris, H. N. et al. Prevalence of breast and colorectal cancer in Ashkenazi Jewish carriers of Fanconi anemia and Bloom syndrome. Isr Med Assoc J 9, 847-850 (2007).
-
(2007)
Isr Med Assoc J
, vol.9
, pp. 847-850
-
-
Baris, H.N.1
-
7
-
-
0032946216
-
Mucinous carcinoma of the colon in a 16-year-old Turkish boy with Bloom syndrome: Cytogenetic, histopathologic, TP53 gene and protein expression studies
-
Balci, S. and Aktas, D. Mucinous carcinoma of the colon in a 16-year-old Turkish boy with Bloom syndrome: cytogenetic, histopathologic, TP53 gene and protein expression studies. Cancer Genet Cytogenet 111, 45-48 (1999).
-
(1999)
Cancer Genet Cytogenet
, vol.111
, pp. 45-48
-
-
Balci, S.1
Aktas, D.2
-
8
-
-
84871448593
-
Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders
-
ORoak, B. J. et al. Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders. Science 338, 1619-1622 (2012).
-
(2012)
Science
, vol.338
, pp. 1619-1622
-
-
ORoak, B.J.1
-
9
-
-
34247562576
-
Syndrome-causing mutations of the BLM gene in persons in the Blooms Syndrome Registry
-
German, J., Sanz, M. M., Ciocci, S., Ye, T. Z. and Ellis, N. A. Syndrome-causing mutations of the BLM gene in persons in the Blooms Syndrome Registry. Hum Mutat 28, 743-753 (2007).
-
(2007)
Hum Mutat
, vol.28
, pp. 743-753
-
-
German, J.1
Sanz, M.M.2
Ciocci, S.3
Ye, T.Z.4
Ellis, N.A.5
-
10
-
-
84941574335
-
-
Exome Aggregation Consortium (ExAC) (Dateofaccess:10/11/2014
-
Exome Aggregation Consortium (ExAC), ExAC data set browser (2014). http://exac.broadinstitute.org (Date of access: 10/11/2014).
-
(2014)
ExAC Data Set Browser
-
-
-
11
-
-
67749089553
-
Genomic instability and cancer: Lessons from analysis of Blooms syndrome
-
Payne, M. and Hickson, I. D. Genomic instability and cancer: lessons from analysis of Blooms syndrome. Biochem Soc Trans 37, 553-559 (2009).
-
(2009)
Biochem Soc Trans
, vol.37
, pp. 553-559
-
-
Payne, M.1
Hickson, I.D.2
-
12
-
-
78149434190
-
The RecQ DNA helicases in DNA repair
-
Bernstein, K. A., Gangloff, S. and Rothstein, R. The RecQ DNA helicases in DNA repair. Annu Rev Genet 44, 393-417 (2010).
-
(2010)
Annu Rev Genet
, vol.44
, pp. 393-417
-
-
Bernstein, K.A.1
Gangloff, S.2
Rothstein, R.3
-
13
-
-
0033667704
-
Cancer predisposition caused by elevated mitotic recombination in Bloom mice
-
Luo, G. et al. Cancer predisposition caused by elevated mitotic recombination in Bloom mice. Nature genetics 26, 424-429 (2000).
-
(2000)
Nature Genetics
, vol.26
, pp. 424-429
-
-
Luo, G.1
-
14
-
-
0037144601
-
Enhanced tumor formation in mice heterozygous for Blm mutation
-
Goss, K. H. et al. Enhanced tumor formation in mice heterozygous for Blm mutation. Science 297, 2051-2053 (2002).
-
(2002)
Science
, vol.297
, pp. 2051-2053
-
-
Goss, K.H.1
-
15
-
-
0345724846
-
Chromosome instability and tumor predisposition inversely correlate with BLM protein levels
-
McDaniel, L. D. et al. Chromosome instability and tumor predisposition inversely correlate with BLM protein levels. DNA Repair 2, 1387-1404 (2003).
-
(2003)
DNA Repair
, vol.2
, pp. 1387-1404
-
-
McDaniel, L.D.1
-
16
-
-
84905914908
-
Development of breast tumors in CHEK2, NBN/NBS1 and BLM mutation carriers does not commonly involve somatic inactivation of the wild-type allele
-
Suspitsin, E. N. et al. Development of breast tumors in CHEK2, NBN/NBS1 and BLM mutation carriers does not commonly involve somatic inactivation of the wild-type allele. Med Oncol 31, 828 (2014).
-
(2014)
Med Oncol
, vol.31
, pp. 828
-
-
Suspitsin, E.N.1
-
17
-
-
84880005228
-
Identification of novel variants in colorectal cancer families by high-throughput exome sequencing
-
DeRycke, M. S. et al. Identification of novel variants in colorectal cancer families by high-throughput exome sequencing. Cancer Epidemiol Biomarkers Prev 22, 1239-1251 (2013).
-
(2013)
Cancer Epidemiol Biomarkers Prev
, vol.22
, pp. 1239-1251
-
-
DeRycke, M.S.1
-
18
-
-
84887271790
-
Eleven candidate susceptibility genes for common familial colorectal cancer
-
Gylfe, A. E. et al. Eleven candidate susceptibility genes for common familial colorectal cancer. PLoS Genet 9, e1003876 (2013).
-
(2013)
PLoS Genet
, vol.9
, pp. e1003876
-
-
Gylfe, A.E.1
-
19
-
-
84879409534
-
Exome resequencing identifies potential tumor-suppressor genes that predispose to colorectal cancer
-
Smith, C. G. et al. Exome resequencing identifies potential tumor-suppressor genes that predispose to colorectal cancer. Hum Mutat 34, 1026-1034 (2013).
-
(2013)
Hum Mutat
, vol.34
, pp. 1026-1034
-
-
Smith, C.G.1
-
20
-
-
84883163903
-
Germline mutations in the spindle assembly checkpoint genes BUB1 and BUB3 are risk factors for colorectal cancer
-
De Voer, R. M. et al. Germline mutations in the spindle assembly checkpoint genes BUB1 and BUB3 are risk factors for colorectal cancer. Gastroenterology 145, 544-547 (2013).
-
(2013)
Gastroenterology
, vol.145
, pp. 544-547
-
-
De Voer, R.M.1
-
21
-
-
84887617035
-
A post-hoc comparison of the utility of Sanger sequencing and exome sequencing for the diagnosis of heterogeneous diseases
-
Neveling, K. et al. A post-hoc comparison of the utility of Sanger sequencing and exome sequencing for the diagnosis of heterogeneous diseases. Human Mutat 34, 1721-1726 (2013).
-
(2013)
Human Mutat
, vol.34
, pp. 1721-1726
-
-
Neveling, K.1
-
22
-
-
84877108149
-
Single molecule molecular inversion probes for targeted, high-accuracy detection of low-frequency variation
-
Hiatt, J. B. et al. Single molecule molecular inversion probes for targeted, high-accuracy detection of low-frequency variation. Genome Res 23, 843-854 (2013).
-
(2013)
Genome Res
, vol.23
, pp. 843-854
-
-
Hiatt, J.B.1
|