ClinVar: public archive of relationships among sequence variation and human phenotype
…, JM Lee, GR Riley, W Jang, WS Rubinstein… - Nucleic acids …, 2014 - academic.oup.com
ClinVar ( http://www.ncbi.nlm.nih.gov/clinvar/ ) provides a freely available archive of reports
of relationships among medically important variants and phenotypes. ClinVar accessions …
of relationships among medically important variants and phenotypes. ClinVar accessions …
Mutations in SDHD, a Mitochondrial Complex II Gene, in Hereditary Paraganglioma
…, A Bosch, A Mey, PEM Taschner, WS Rubinstein… - Science, 2000 - science.org
Hereditary paraganglioma (PGL) is characterized by the development of benign, vascularized
tumors in the head and neck. The most common tumor site is the carotid body (CB), a …
tumors in the head and neck. The most common tumor site is the carotid body (CB), a …
Association of risk-reducing surgery in BRCA1 or BRCA2 mutation carriers with cancer risk and mortality
…, N Tung, JN Weitzel, FJ Couch, WS Rubinstein… - Jama, 2010 - jamanetwork.com
Context Mastectomy and salpingo-oophorectomy are widely used by carriers of BRCA1 or
BRCA2 mutations to reduce their risks of breast and ovarian cancer. Objective To estimate …
BRCA2 mutations to reduce their risks of breast and ovarian cancer. Objective To estimate …
Founder and recurrent CDH1 mutations in families with hereditary diffuse gastric cancer
…, M Connolly-Wilson, S Weissman, WS Rubinstein… - Jama, 2007 - jamanetwork.com
ContextHereditary diffuse gastric cancer is caused by germline mutations in the epithelial
cadherin (CDH1) gene and is characterized by an increased risk for diffuse gastric cancer and …
cadherin (CDH1) gene and is characterized by an increased risk for diffuse gastric cancer and …
[PDF][PDF] BRCAPRO Validation, Sensitivity of Genetic Testing of BRCA1/BRCA2, and Prevalence of Other Breast Cancer Susceptibility Genes
…, SG Hilsenbeck, WS Rubinstein… - Journal of Clinical …, 2002 - researchgate.net
Purpose: To compare genetic test results for deleteri-ous mutations of BRCA1 and BRCA2
with estimated probabilities of carrying such mutations; to assess sensitivity of genetic testing; …
with estimated probabilities of carrying such mutations; to assess sensitivity of genetic testing; …
A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor–negative breast cancer in the general …
…, O Olopade, J Simard, P Soucy, WS Rubinstein… - Nature …, 2010 - nature.com
Germline BRCA1 mutations predispose to breast cancer. To identify genetic modifiers of this
risk, we performed a genome-wide association study in 1,193 individuals with BRCA1 …
risk, we performed a genome-wide association study in 1,193 individuals with BRCA1 …
Effect of a computer-based decision aid on knowledge, perceptions, and intentions about genetic testing for breast cancer susceptibility: a randomized controlled trial
…, MW Baker, GR Harper, LC Friedman, WS Rubinstein… - Jama, 2004 - jamanetwork.com
ContextAs the availability of and demand for genetic testing for hereditary cancers increases
in primary care and other clinical settings, alternative or adjunct educational methods to …
in primary care and other clinical settings, alternative or adjunct educational methods to …
Advances in counselling and surveillance of patients at risk for pancreatic cancer
Even with significant advances in imaging and our understanding of pancreatic cancer
genetics, the survival rates for pancreatic cancer remain quite dismal. Although still at an early …
genetics, the survival rates for pancreatic cancer remain quite dismal. Although still at an early …
[HTML][HTML] American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology providers
…, TM Mulvey, L Robinson, WS Rubinstein… - Journal of Clinical …, 2014 - ncbi.nlm.nih.gov
Approximately 5% to 10% of cancers are attributable to a hereditary cancer predisposition
syndrome. Identifying those patients with cancer who have an inherited cancer predisposition …
syndrome. Identifying those patients with cancer who have an inherited cancer predisposition …
[PDF][PDF] Point mutations in exon 1B of APC reveal gastric adenocarcinoma and proximal polyposis of the stomach as a familial adenomatous polyposis variant
…, SM Weissman, A Newlin, WS Rubinstein… - The American Journal of …, 2016 - cell.com
Gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS) is an autosomal-dominant
cancer-predisposition syndrome with a significant risk of gastric, but not colorectal, …
cancer-predisposition syndrome with a significant risk of gastric, but not colorectal, …