|
1
|
Germline mutations in the PTEN/MMAC1 gene in patients with Cowden disease.
|
Hum Mol Genet
|
1997
|
3.56
|
|
2
|
Association of hereditary nonpolyposis colorectal cancer-related tumors displaying low microsatellite instability with MSH6 germline mutations.
|
Am J Hum Genet
|
1999
|
2.27
|
|
3
|
Molecular evidence linking primary cancer of the fallopian tube to BRCA1 germline mutations.
|
Gynecol Oncol
|
2000
|
2.04
|
|
4
|
Germline mutations of EXO1 gene in patients with hereditary nonpolyposis colorectal cancer (HNPCC) and atypical HNPCC forms.
|
Gastroenterology
|
2001
|
1.84
|
|
5
|
Identification of mismatch repair gene mutations in young patients with colorectal cancer and in patients with multiple tumours associated with hereditary non-polyposis colorectal cancer.
|
Gut
|
2006
|
1.46
|
|
6
|
Multiplicity in polyp count and extracolonic manifestations in 40 Dutch patients with MYH associated polyposis coli (MAP).
|
J Med Genet
|
2005
|
1.38
|
|
7
|
Cost effectiveness of a new strategy to identify HNPCC patients.
|
Gut
|
2005
|
1.38
|
|
8
|
Genetic predisposition to testicular germ-cell tumours.
|
Lancet Oncol
|
2004
|
1.28
|
|
9
|
The InSiGHT database: utilizing 100 years of insights into Lynch syndrome.
|
Fam Cancer
|
2013
|
1.27
|
|
10
|
Familial testicular cancer in a single-centre population.
|
Eur J Cancer
|
1999
|
1.17
|
|
11
|
Family system characteristics and psychological adjustment to cancer susceptibility genetic testing: a prospective study.
|
Clin Genet
|
2007
|
1.16
|
|
12
|
A role for MLH3 in hereditary nonpolyposis colorectal cancer.
|
Nat Genet
|
2001
|
1.11
|
|
13
|
BRCA1 and BRCA2 heterozygosity and repair of X-ray-induced DNA damage.
|
Int J Radiat Biol
|
2002
|
1.07
|
|
14
|
Frequency of Von Hippel-Lindau germline mutations in classic and non-classic Von Hippel-Lindau disease identified by DNA sequencing, Southern blot analysis and multiplex ligation-dependent probe amplification.
|
Clin Genet
|
2007
|
1.02
|
|
15
|
Experience of parental cancer in childhood is a risk factor for psychological distress during genetic cancer susceptibility testing.
|
Ann Oncol
|
2006
|
0.96
|
|
16
|
RET mutation screening in familial cutaneous lichen amyloidosis and in skin amyloidosis associated with multiple endocrine neoplasia.
|
J Invest Dermatol
|
1996
|
0.92
|
|
17
|
MLH1 and MSH2 protein expression as a pre-screening marker in hereditary and non-hereditary endometrial hyperplasia and cancer.
|
Int J Cancer
|
2001
|
0.91
|
|
18
|
Regular surveillance for Li-Fraumeni Syndrome: advice, adherence and perceived benefits.
|
Fam Cancer
|
2010
|
0.91
|
|
19
|
Adrenocortical adenocarcinoma in an MSH2 carrier: coincidence or causal relation?
|
Hum Pathol
|
2000
|
0.90
|
|
20
|
A multicentre comparative prospective blinded analysis of EUS and MRI for screening of pancreatic cancer in high-risk individuals.
|
Gut
|
2015
|
0.87
|
|
21
|
Geographic clustering of testicular cancer incidence in the northern part of The Netherlands.
|
Br J Cancer
|
1999
|
0.87
|
|
22
|
Re-analysis of the Xq27-Xq28 region suggests a weak association of an X-linked gene with sporadic testicular germ cell tumour without cryptorchidism.
|
Eur J Cancer
|
2006
|
0.86
|
|
23
|
Psychosocial impact of Von Hippel-Lindau disease: levels and sources of distress.
|
Clin Genet
|
2010
|
0.86
|
|
24
|
The additional value of endometrial sampling in the early detection of endometrial cancer in women with Lynch syndrome.
|
Gynecol Oncol
|
2013
|
0.84
|
|
25
|
Contribution of bi-allelic germline MUTYH mutations to early-onset and familial colorectal cancer and to low number of adenomatous polyps: case-series and literature review.
|
Fam Cancer
|
2013
|
0.83
|
|
26
|
Prenatal diagnosis in a family with X-linked chronic granulomatous disease with the use of the polymerase chain reaction.
|
Prenat Diagn
|
1992
|
0.83
|
|
27
|
Rapidly progressive adenomatous polyposis in a patient with germline mutations in both the APC and MLH1 genes: the worst of two worlds.
|
Gut
|
2003
|
0.82
|
|
28
|
Hereditary non-polyposis colorectal cancer: identification of mutation carriers and assessing pathogenicity of mutations.
|
Scand J Gastroenterol Suppl
|
2004
|
0.81
|
|
29
|
The introduction of a choice to learn pre-symptomatic DNA test results for BRCA or Lynch syndrome either face-to-face or by letter.
|
Clin Genet
|
2011
|
0.80
|
|
30
|
Distress in partners of individuals diagnosed with or at high risk of developing tumors due to rare hereditary cancer syndromes.
|
Psychooncology
|
2011
|
0.80
|
|
31
|
[More hereditary intestinal cancer can be detected if patients with colorectal carcinoma that are selected by the pathologist are examined for microsatellite instability].
|
Ned Tijdschr Geneeskd
|
2005
|
0.79
|
|
32
|
Acceptable age for prophylactic surgery in children with multiple endocrine neoplasia type 2a.
|
Eur J Surg Oncol
|
2003
|
0.79
|
|
33
|
Absence of constitutional Y chromosome AZF deletions in patients with testicular germ cell tumors.
|
Urology
|
2005
|
0.78
|
|
34
|
Early-onset renal cell cancer and bilateral epididymal cysts as presenting symptoms of von Hippel-Lindau disease.
|
Br J Urol
|
1998
|
0.78
|
|
35
|
Clinical definition of hereditary non-polyposis colorectal cancer: a search for the impossible?
|
Scand J Gastroenterol Suppl
|
2001
|
0.77
|
|
36
|
Prenatal diagnosis in two cases of de novo complex balanced chromosomal rearrangements. Three-year follow-up in one case.
|
Prenat Diagn
|
1995
|
0.75
|
|
37
|
[The chance of breast carcinoma and related carcinomas in a positive family anamnesis. Landelijke Werkgroep Erfelijk Mammacarcinoom van de Stichting Opsporing Erfelijke Tumoren].
|
Ned Tijdschr Geneeskd
|
1995
|
0.75
|
|
38
|
Familial and hereditary non-polyposis colorectal cancer: issues relevant for surgical practice.
|
Recent Results Cancer Res
|
1998
|
0.75
|
|
39
|
No association between the Arg201Gly polymorphism of the DCC gene and colorectal cancer.
|
Dig Liver Dis
|
2004
|
0.75
|