Published in Hum Mutat on February 22, 2011
Pure adult-onset spastic paraplegia caused by a novel mutation in the KIAA0196 (SPG8) gene. J Neurol (2013) 0.94
Gene expression profile of peripheral blood in colorectal cancer. World J Gastroenterol (2014) 0.83
The Norwegian PMS2 founder mutation c.989-1G > T shows high penetrance of microsatellite instable cancers with normal immunohistochemistry. Hered Cancer Clin Pract (2014) 0.75
Surveillance for familial breast cancer: Differences in outcome according to BRCA mutation status. Int J Cancer (2007) 1.84
Germ-line mutations in mismatch repair genes associated with prostate cancer. Cancer Epidemiol Biomarkers Prev (2009) 1.37
Genetic epidemiology of BRCA mutations--family history detects less than 50% of the mutation carriers. Eur J Cancer (2007) 1.32
High risk for ovarian cancer in a prospective series is restricted to BRCA1/2 mutation carriers. Clin Cancer Res (2008) 0.95
Germline PTEN mutations are rare and highly penetrant. Hered Cancer Clin Pract (2006) 0.94
Survival of patients with BRCA1-associated breast cancer diagnosed in an MRI-based surveillance program. Breast Cancer Res Treat (2013) 0.90
Prevention of colorectal cancer by colonoscopic surveillance in families with hereditary colorectal cancer. Scand J Gastroenterol (2007) 0.89
The clinical utility of genetic testing in breast cancer kindreds: a prospective study in families without a demonstrable BRCA mutation. Breast Cancer Res Treat (2014) 0.85
CGEN--a Clinical GENetics software application. Hum Mutat (2011) 0.84
Fanconi anaemia, BRCA2 and familial considerations - follow up on a previous case report. Acta Paediatr (2010) 0.78
No sib pair concordance for breast or ovarian cancer in BRCA1 mutation carriers. Hered Cancer Clin Pract (2007) 0.78
Analysis of Xq27-28 linkage in the international consortium for prostate cancer genetics (ICPCG) families. BMC Med Genet (2012) 0.76
High penetrances of BRCA1 and BRCA2 mutations confirmed in a prospective series. Hered Cancer Clin Pract (2010) 0.75
High risk of endometrial cancer in colorectal cancer kindred is pathognomonic for MMR-mutation carriers. Fam Cancer (2008) 0.75