scholarly journals Mutation prevalence tables for hereditary cancer derived from multi-gene panel testing

2019 ◽  
Author(s):  
Steven N. Hart ◽  
Eric C. Polley ◽  
Amal Yussuf ◽  
Siddhartha Yadav ◽  
David E. Goldgar ◽  
...  
Keyword(s):  
Hereditary Cancer ◽  
Age Of Onset ◽  
Clinical Care ◽  
Cancer Predisposition ◽  
Gene Panel ◽  
High Risk Population ◽  
Cancer Type ◽  
Detection Rates ◽  
Panel Testing ◽  
Gene Panel Testing

AbstractPurposeMulti-gene panel testing for cancer predisposition mutations is becoming routine in clinical care. However, the gene content of panels offered by testing laboratories vary significantly, and data on mutation detection rates by gene and by panel is limited, causing confusion among clinicians on which test would be the most appropriate to order. Moreover, screening guidelines are not described in sufficient granularity to explain how differences in family, personal history, age, and other factors would affect the prevalence of finding a mutation in similar populations. The tool herein quantifies prevalence of mutations in hereditary cancer genes based on personalized clinical and demographic characteristics.MethodsUsing results from approximately 150,000 multi-gene panel tests conducted at Ambry Genetics, we built an interactive prevalence tool to explore how differences in ethnicity, age of onset, and personal and family history of different cancers affect the prevalence of pathogenic mutations in 31 cancer predisposition genes, across various clinically available hereditary cancer gene panels.ResultsOver 13,000 mutation carriers were identified in this high-risk population. Most of the cases were Non-Hispanic White (74%, n=109,537), but also provide an appreciable dataset for those identifying as Black (n=10,875), Ashkenazi Jewish (n=10,464), Hispanic (n=10,028), and Asian (n=7,090). The most prevalent cancer types were breast (50%), ovarian (6.6%), and colorectal (4.7%), which is expected based on genetic testing guidelines and clinician referral for testing.ConclusionThe Hereditary Cancer Multi-Gene Panel Prevalence Tool presented here can be used to provide insight into the prevalence of mutations on a per-gene and per-multigene panel basis, while conditioning on multiple custom phenotypic variables to include race and cancer type. The tool can be found at https://www.ambrygen.com/prevalence-tool.

scholarly journals Germline variants and phenotypic spectrum in a Canadian cohort of individuals with diffuse gastric cancer

2019 ◽  
Vol 27 (2) ◽  
Author(s):  
M. Aronson ◽  
C. Swallow ◽  
A. Govindarajan ◽  
K. Semotiuk ◽  
Z. Cohen ◽  
...  
Keyword(s):  
Gastric Cancer ◽  
Detection Rate ◽  
Gene Panel ◽  
Diffuse Gastric Cancer ◽  
Cancer Syndrome ◽  
Detection Rates ◽  
Inherited Cancer ◽  
Panel Testing ◽  
Pathogenic Variants ◽  
Gene Panel Testing

Background CDH1 pathogenic variants (PV) cause the majority of inherited diffuse-gastric cancer (DGC), but have low detection rates and vary geographically. This study examines hereditary causes of DGC in patients from Ontario, Canada. Methods Eligible DGC cases at the Zane Cohen Centre (ZCC) underwent multi-gene panel or CDH1 single-site testing if they met 2015 International Gastric Cancer Linkage Consortium (IGCLC) criteria, isolated DGC <50 or family history suggestive of an inherited cancer syndrome. A secondary aim was to review all CDH1 families at the ZCC to assess cancer penetrance. Results 85 DGC patients underwent CDH1 (n=43) or multi-gene panel testing (n=42), and 15 (17.6%) PV or likely PV were identified.  CDH1 detection rate was 9.4% (n=8/85), and 11% (n=7/65) using IGCLC criteria.  No CDH1 PV identified in isolated DGC <40, but one PV identified in isolated DGC<50.  Multi-gene panel from 42 individuals identified 9 PV (21.4%) including CDH1, STK11, ATM, BRCA2, MLH1 and MSH2.  Review of 81 CDH1 carriers revealed that 10% had DGC (median age:48, range:38-59), 41% were unaffected (median age:53, range:26-89).  Three families had lobular-breast cancer (LBC) only.  Non-DGC/LBC malignancies included colorectal, gynecological, kidney/bladder, prostate, testicular and ductal breast. Conclusions Low detection rate of CDH1 in Ontario DGC patients.  No CDH1 PV found in isolated DGC <40, but identified in isolated DGC<50. Multi-gene panels are recommended for all DGC under age 50, and those meeting the IGCLC criteria, given overlapping phenotype with other hereditary conditions. HDGC phenotype is evolving with a spectrum of non-DGC/LBC cancers.

Abstract P2-09-06: Multi-gene panel testing for hereditary cancer risk

2016 ◽  
Author(s):  
S Yadav ◽  
R Ladkany ◽  
J Fulbright ◽  
H Dreyfuss ◽  
A Reeves ◽  
...  
Keyword(s):  
Cancer Risk ◽  
Hereditary Cancer ◽  
Gene Panel ◽  
Panel Testing ◽  
Gene Panel Testing

Challenges to clinical utilization of hereditary cancer gene panel testing: perspectives from the front lines

2015 ◽  
Vol 14 (4) ◽  
pp. 641-649 ◽  
Author(s):  
Rebecca K. Marcus ◽  
Jennifer L. Geurts ◽  
Jessica A. Grzybowski ◽  
Kiran K. Turaga ◽  
T. Clark Gamblin ◽  
...  
Keyword(s):  
Hereditary Cancer ◽  
Gene Panel ◽  
Cancer Gene ◽  
Clinical Utilization ◽  
Panel Testing ◽  
Gene Panel Testing

Multi-gene panel testing for hereditary cancer susceptibility in a rural Familial Cancer Program

2016 ◽  
Vol 16 (1) ◽  
pp. 159-166 ◽  
Author(s):  
David J. Hermel ◽  
Wendy C. McKinnon ◽  
Marie E. Wood ◽  
Marc S. Greenblatt
Keyword(s):  
Hereditary Cancer ◽  
Cancer Susceptibility ◽  
Familial Cancer ◽  
Gene Panel ◽  
Panel Testing ◽  
Cancer Program ◽  
Gene Panel Testing

scholarly journals GENE-04. CHARACTERISTICS OF PATIENTS WITH A PRIMARY BRAIN TUMOR UNDERGOING HEREDITARY CANCER MULTI-GENE PANEL TESTING

2018 ◽  
Vol 20 (suppl_6) ◽  
pp. vi103-vi103
Author(s):  
Sarah Azam ◽  
Krista Qualmann ◽  
Syed Hashmi ◽  
Aarti Ramdaney ◽  
David Rodriguez-Buritica ◽  
...  
Keyword(s):  
Brain Tumor ◽  
Hereditary Cancer ◽  
Primary Brain Tumor ◽  
Gene Panel ◽  
Panel Testing ◽  
Gene Panel Testing

scholarly journals Population-based estimates of breast cancer risk for carriers of pathogenic variants identified by gene-panel testing

2021 ◽  
Vol 7 (1) ◽  
Author(s):  
Melissa C. Southey ◽  
James G. Dowty ◽  
Moeen Riaz ◽  
Jason A. Steen ◽  
Anne-Laure Renault ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Breast Cancer Risk ◽  
Cancer Risk ◽  
Population Based ◽  
Cancer Predisposition ◽  
Gene Panel ◽  
Breast Cancer Predisposition ◽  
Panel Testing ◽  
Pathogenic Variants ◽  
Gene Panel Testing

AbstractPopulation-based estimates of breast cancer risk for carriers of pathogenic variants identified by gene-panel testing are urgently required. Most prior research has been based on women selected for high-risk features and more data is needed to make inference about breast cancer risk for women unselected for family history, an important consideration of population screening. We tested 1464 women diagnosed with breast cancer and 862 age-matched controls participating in the Australian Breast Cancer Family Study (ABCFS), and 6549 healthy, older Australian women enroled in the ASPirin in Reducing Events in the Elderly (ASPREE) study for rare germline variants using a 24-gene-panel. Odds ratios (ORs) were estimated using unconditional logistic regression adjusted for age and other potential confounders. We identified pathogenic variants in 11.1% of the ABCFS cases, 3.7% of the ABCFS controls and 2.2% of the ASPREE (control) participants. The estimated breast cancer OR [95% confidence interval] was 5.3 [2.1–16.2] for BRCA1, 4.0 [1.9–9.1] for BRCA2, 3.4 [1.4–8.4] for ATM and 4.3 [1.0–17.0] for PALB2. Our findings provide a population-based perspective to gene-panel testing for breast cancer predisposition and opportunities to improve predictors for identifying women who carry pathogenic variants in breast cancer predisposition genes.

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