Lack of GNAQ germline mutations in uveal melanoma patients with high risk for hereditary cancer predisposition

2010 ◽  
Vol 10 (2) ◽  
pp. 319-321 ◽  
Author(s):  
Mohamed H. Abdel-Rahman ◽  
Robert Pilarski ◽  
James B. Massengill ◽  
Benjamin B. Christopher ◽  
Frederick H. Davidorf
Keyword(s):  
High Risk ◽  
Uveal Melanoma ◽  
Hereditary Cancer ◽  
Germline Mutations ◽  
Cancer Predisposition ◽  
Melanoma Patients ◽  
Hereditary Cancer Predisposition

Melanoma candidate genes CDKN2A/p16/INK4A, p14ARF, and CDK4 sequencing in patients with uveal melanoma with relative high-risk for hereditary cancer predisposition

2011 ◽  
Vol 21 (3) ◽  
pp. 175-179 ◽  
Author(s):  
Mohamed H. Abdel-Rahman ◽  
Robert Pilarski ◽  
James B. Massengill ◽  
Benjamin N. Christopher ◽  
Ryan Noss ◽  
...  
Keyword(s):  
High Risk ◽  
Candidate Genes ◽  
Uveal Melanoma ◽  
Hereditary Cancer ◽  
Cancer Predisposition ◽  
P16 Ink4a ◽  
Hereditary Cancer Predisposition

scholarly journals Identification of Incidental Germline Mutations in Patients With Advanced Solid Tumors Who Underwent Cell-Free Circulating Tumor DNA Sequencing

2018 ◽  
Vol 36 (35) ◽  
pp. 3459-3465 ◽  
Author(s):  
Thomas P. Slavin ◽  
Kimberly C. Banks ◽  
Darya Chudova ◽  
Geoffrey R. Oxnard ◽  
Justin I. Odegaard ◽  
...  
Keyword(s):  
Hereditary Cancer ◽  
Germline Mutations ◽  
Circulating Tumor Dna ◽  
Cancer Predisposition ◽  
Cancer Genetic Counseling ◽  
Predisposition Genes ◽  
Average Patient ◽  
Cancer Types ◽  
Tumor Dna ◽  
Hereditary Cancer Predisposition

Purpose To determine the potential for detection of incidental germline cancer predisposition mutations through cell-free DNA (cfDNA) analyses in patients who underwent solid tumor somatic mutation evaluation. Patients and Methods Data were evaluated from 10,888 unselected patients with advanced (stage III/IV) cancer who underwent Guardant360 testing between November 2015 and December 2016. The main outcome was prevalence of putative germline mutations identified among 16 actionable hereditary cancer predisposition genes. Results More than 50 cancer types were studied, including lung (41%), breast (19%), colorectal (8%), prostate (6%), pancreatic (3%), and ovarian (2%). Average patient age was 63.5 years (range, 18 to 95 years); 43% were male. One hundred and fifty-six individuals (1.4%) had suspected hereditary cancer mutations in 11 genes. Putative germline mutations were more frequent in individuals younger than 50 years versus those 50 years and older (3.0% v 1.2%, respectively; P < .001). Highest yields of putative germline findings were in patients with ovarian (8.13%), prostate (3.46%), pancreatic (3.34%), and breast (2.2%) cancer. Putative germline mutation identification was consistent among 12 individuals with multiple samples. Patients with circulating tumor DNA copy number variation and/or reversion mutations suggestive of functional loss of the wild-type allele in the tumor DNA also are described. Conclusion Detection of putative germline mutations from cfDNA is feasible across multiple genes and cancer types without prior mutation knowledge. Many mutations were found in cancers without clear guidelines for hereditary cancer genetic counseling/testing. Given the clinical significance of identifying hereditary cancer predisposition for patients and their families as well as targetable germline alterations such as in BRCA1 or BRCA2, research on the best way to validate and return potential germline results from cfDNA analysis to clinicians and patients is needed.

scholarly journals Multi-gene panel testing for hereditary cancer predisposition in unsolved high-risk breast and ovarian cancer patients

2017 ◽  
Vol 163 (2) ◽  
pp. 383-390 ◽  
Author(s):  
Beth Crawford ◽  
Sophie B. Adams ◽  
Taylor Sittler ◽  
Jeroen van den Akker ◽  
Salina Chan ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
High Risk ◽  
Cancer Patients ◽  
Hereditary Cancer ◽  
Cancer Predisposition ◽  
Breast And Ovarian Cancer ◽  
Panel Testing ◽  
Gene Panel Testing ◽  
High Risk Breast ◽  
Hereditary Cancer Predisposition

A surveillance clinic for children and adolescents with, or at risk of, hereditary cancer predisposition syndromes

2021 ◽  
Vol 214 (7) ◽  
pp. 335
Author(s):  
Nicholas Leedman ◽  
Murray Princehorn ◽  
Nicholas Gottardo ◽  
Claire Franklin ◽  
Rebecca D'Souza ◽  
...  
Keyword(s):  
At Risk ◽  
Children And Adolescents ◽  
Hereditary Cancer ◽  
Cancer Predisposition ◽  
Hereditary Cancer Predisposition

Primer on Hereditary Cancer Predisposition Genes Included Within Somatic Next-Generation Sequencing Panels

2019 ◽  
pp. 1-11
Author(s):  
Zade Akras ◽  
Brandon Bungo ◽  
Brandie H. Leach ◽  
Jessica Marquard ◽  
Manmeet Ahluwalia ◽  
...  
Keyword(s):  
Hereditary Cancer ◽  
Cancer Susceptibility ◽  
Cancer Predisposition ◽  
Comprehensive Overview ◽  
Germline Variants ◽  
Cancer Susceptibility Genes ◽  
Germline Genes ◽  
Number Of Genes ◽  
Predisposition Genes ◽  
Hereditary Cancer Predisposition

PURPOSE It has been estimated that 5% to 10% of cancers are due to hereditary causes. Recent data sets indicate that the incidence of hereditary cancer may be as high as 17.5% in patients with cancer, and a notable subset is missed if screening is solely by family history and current syndrome-based testing guidelines. Identification of germline variants has implications for both patients and their families. There is currently no comprehensive overview of cancer susceptibility genes or inclusion of these genes in commercially available somatic testing. We aimed to summarize genes linked to hereditary cancer and the somatic and germline panels that include such genes. METHODS Germline predisposition genes were chosen if commercially available for testing. Penetrance was defined as low, moderate, or high according to whether the gene conferred a 0% to 20%, 20% to 50%, or 50% to 100% lifetime risk of developing the cancer or, when percentages were not available, was estimated on the basis of existing literature descriptions. RESULTS We identified a total of 89 genes linked to hereditary cancer predisposition, and we summarized these genes alphabetically and by organ system. We considered four germline and six somatic commercially available panel tests and quantified the coverage of germline genes across them. Comparison between the number of genes that had germline importance and the number of genes included in somatic testing showed that many but not all germline genes are tested by frequently used somatic panels. CONCLUSION The inclusion of cancer-predisposing genes in somatic variant testing panels makes incidental germline findings likely. Although somatic testing can be used to screen for germline variants, this strategy is inadequate for comprehensive screening. Access to genetic counseling is essential for interpretation of germline implications of somatic testing and implementation of appropriate screening and follow-up.

Utilization of Multigene Panels in Hereditary Cancer Predisposition Testing

2015 ◽  
pp. 459-482
Author(s):  
Holly LaDuca ◽  
Tina Pesaran ◽  
Aaron M. Elliott ◽  
Virginia Speare ◽  
Jill S. Dolinsky ◽  
...  
Keyword(s):  
Hereditary Cancer ◽  
Cancer Predisposition ◽  
Multigene Panels ◽  
Hereditary Cancer Predisposition

Radiological Screening for Hereditary Cancer Predisposition Syndromes

2021 ◽  
pp. 497-512
Author(s):  
Gökhan Kahraman ◽  
Pınar Çeltikçi ◽  
Şebnem Karasu
Keyword(s):  
Hereditary Cancer ◽  
Cancer Predisposition ◽  
Hereditary Cancer Predisposition
Sign in / Sign up

Export Citation Format

Share Document