1
|
Cancer risks associated with germline mutations in MLH1, MSH2, and MSH6 genes in Lynch syndrome.
|
JAMA
|
2011
|
4.84
|
2
|
A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma.
|
Nature
|
2011
|
3.53
|
3
|
Common variants in LSP1, 2q35 and 8q24 and breast cancer risk for BRCA1 and BRCA2 mutation carriers.
|
Hum Mol Genet
|
2009
|
2.13
|
4
|
Identification of a BRCA2-specific modifier locus at 6p24 related to breast cancer risk.
|
PLoS Genet
|
2013
|
1.88
|
5
|
Ploidy and large-scale genomic instability consistently identify basal-like breast carcinomas with BRCA1/2 inactivation.
|
Cancer Res
|
2012
|
1.78
|
6
|
Identification of typical medullary breast carcinoma as a genomic sub-group of basal-like carcinomas, a heterogeneous new molecular entity.
|
Breast Cancer Res
|
2007
|
1.58
|
7
|
Common genetic variants and modification of penetrance of BRCA2-associated breast cancer.
|
PLoS Genet
|
2010
|
1.56
|
8
|
Brain magnetic resonance imaging in patients with Cowden syndrome.
|
Medicine (Baltimore)
|
2005
|
1.50
|
9
|
High cumulative risks of cancer in patients with PTEN hamartoma tumour syndrome.
|
J Med Genet
|
2013
|
1.50
|
10
|
Segmental overgrowth, lipomatosis, arteriovenous malformation and epidermal nevus (SOLAMEN) syndrome is related to mosaic PTEN nullizygosity.
|
Eur J Hum Genet
|
2007
|
1.26
|
11
|
Common breast cancer susceptibility alleles are associated with tumour subtypes in BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2.
|
Breast Cancer Res
|
2011
|
1.22
|
12
|
Spectrum of PTCH1 mutations in French patients with Gorlin syndrome.
|
J Invest Dermatol
|
2003
|
1.16
|
13
|
Molecular apocrine differentiation is a common feature of breast cancer in patients with germline PTEN mutations.
|
Breast Cancer Res
|
2010
|
1.14
|
14
|
Spectrum of CREBBP gene dosage anomalies in Rubinstein-Taybi syndrome patients.
|
Eur J Hum Genet
|
2007
|
1.07
|
15
|
Unclassified variants identified in BRCA1 exon 11: Consequences on splicing.
|
Genes Chromosomes Cancer
|
2008
|
1.07
|
16
|
CDKN2A-CDKN2B deletion defines an aggressive subset of cutaneous T-cell lymphoma.
|
Mod Pathol
|
2010
|
1.06
|
17
|
Genome-wide analysis of cutaneous T-cell lymphomas identifies three clinically relevant classes.
|
J Invest Dermatol
|
2010
|
1.05
|
18
|
Comprehensive analysis of PTEN status in breast carcinomas.
|
Int J Cancer
|
2013
|
0.99
|
19
|
Alterations of the p53 and PIK3CA/AKT/mTOR pathways in angiosarcomas: a pattern distinct from other sarcomas with complex genomics.
|
Cancer
|
2012
|
0.99
|
20
|
Pharmacogenetics of human carboxylesterase 2, an enzyme involved in the activation of irinotecan into SN-38.
|
Clin Pharmacol Ther
|
2004
|
0.98
|
21
|
SMARCA4 (BRG1) loss of expression is a useful marker for the diagnosis of ovarian small cell carcinoma of the hypercalcemic type (ovarian rhabdoid tumor): a comprehensive analysis of 116 rare gynecologic tumors, 9 soft tissue tumors, and 9 melanomas.
|
Am J Surg Pathol
|
2015
|
0.94
|
22
|
Primary cutaneous T-cell lymphomas do not show specific NAV3 gene deletion or translocation.
|
J Invest Dermatol
|
2008
|
0.93
|
23
|
Time to prophylactic surgery in BRCA1/2 carriers depends on psychological and other characteristics.
|
Genet Med
|
2010
|
0.92
|
24
|
Association between Cowden syndrome and Lhermitte-Duclos disease: report of two cases and review of the literature.
|
Surg Neurol
|
2004
|
0.91
|
25
|
Breast cancer risk in BRCA1 and BRCA2 mutation carriers and polyglutamine repeat length in the AIB1 gene.
|
Int J Cancer
|
2005
|
0.91
|
26
|
No association of TGFB1 L10P genotypes and breast cancer risk in BRCA1 and BRCA2 mutation carriers: a multi-center cohort study.
|
Breast Cancer Res Treat
|
2008
|
0.90
|
27
|
Associations of common breast cancer susceptibility alleles with risk of breast cancer subtypes in BRCA1 and BRCA2 mutation carriers.
|
Breast Cancer Res
|
2014
|
0.89
|
28
|
Impact of chromosomal instability on colorectal cancer progression and outcome.
|
BMC Cancer
|
2014
|
0.87
|
29
|
Common BRCA2 variants and modification of breast and ovarian cancer risk in BRCA1 mutation carriers.
|
Cancer Epidemiol Biomarkers Prev
|
2005
|
0.86
|
30
|
Detection of a new mutation in KIT exon 9 in a gastrointestinal stromal tumor.
|
Int J Cancer
|
2006
|
0.85
|
31
|
Variation in breast cancer risk associated with factors related to pregnancies according to truncating mutation location, in the French National BRCA1 and BRCA2 mutations carrier cohort (GENEPSO).
|
Breast Cancer Res
|
2012
|
0.85
|
32
|
Genetic polymorphisms of the XPG and XPD nucleotide excision repair genes in sarcoma patients.
|
Int J Cancer
|
2006
|
0.83
|
33
|
An array CGH based genomic instability index (G2I) is predictive of clinical outcome in breast cancer and reveals a subset of tumors without lymph node involvement but with poor prognosis.
|
BMC Med Genomics
|
2012
|
0.83
|
34
|
Genome-wide search for loss of heterozygosity in Burkitt lymphoma cell lines.
|
Genes Chromosomes Cancer
|
2002
|
0.82
|
35
|
The contribution of large genomic deletions at the CDKN2A locus to the burden of familial melanoma.
|
Br J Cancer
|
2008
|
0.81
|
36
|
Novel PTEN germline mutation in a family with mild phenotype: difficulties in genetic counseling.
|
Gene
|
2012
|
0.81
|
37
|
BRCA1 wild-type allele modifies risk of ovarian cancer in carriers of BRCA1 germ-line mutations.
|
Cancer Epidemiol Biomarkers Prev
|
2003
|
0.79
|
38
|
Deletion of chromosomes 13q and 14q is a common feature of tumors with BRCA2 mutations.
|
PLoS One
|
2012
|
0.78
|
39
|
Gene expression profile predicts outcome after anthracycline-based adjuvant chemotherapy in early breast cancer.
|
Breast Cancer Res Treat
|
2010
|
0.77
|
40
|
The common fragile site FRA16C does not map within the 16q smallest region of overlap number 2 frequently lost in breast carcinoma.
|
Cancer Genet Cytogenet
|
2003
|
0.75
|
41
|
Value of microsatellite instability typing in detecting hereditary non-polyposis colorectal cancer. A prospective multicentric study by the Association Aquitaine Gastro.
|
Gastroenterol Clin Biol
|
2005
|
0.75
|