scholarly journals Clinical utility of hereditary cancer panel testing: Impact of PALB2 , ATM , CHEK2 , NBN , BRIP1 , RAD51C , and RAD51D results on patient management and adherence to provider recommendations

Cancer ◽  
2019 ◽  
Vol 126 (3) ◽  
pp. 549-558 ◽  
Author(s):  
Valentina Vysotskaia ◽  
K. Eerik Kaseniit ◽  
Leslie Bucheit ◽  
Kaylene Ready ◽  
Kristin Price ◽  
...  
Keyword(s):  
Hereditary Cancer ◽  
Clinical Utility ◽  
Patient Management ◽  
Panel Testing ◽  
Cancer Panel

Development of a hereditary cancer panel testing for patients with triple negative breast cancer

The Breast ◽  
2019 ◽  
Vol 44 ◽  
pp. S36-S37
Author(s):  
H. Lee ◽  
K. Lee ◽  
J. Lee ◽  
K. Yoon ◽  
A.M. Mohammad ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Triple Negative Breast Cancer ◽  
Hereditary Cancer ◽  
Triple Negative ◽  
Panel Testing ◽  
Cancer Panel

Psychological impact of multigene cancer panel testing in patients with a clinical suspicion of hereditary cancer across Spain

2018 ◽  
Vol 27 (6) ◽  
pp. 1530-1537 ◽  
Author(s):  
I. Esteban ◽  
M. Vilaró ◽  
E. Adrover ◽  
A. Angulo ◽  
E. Carrasco ◽  
...  
Keyword(s):  
Hereditary Cancer ◽  
Psychological Impact ◽  
Clinical Suspicion ◽  
Panel Testing ◽  
Cancer Panel

scholarly journals Apparently Heterozygous TP53 Pathogenic Variants May Be Blood Limited in Patients Undergoing Hereditary Cancer Panel Testing

2020 ◽  
Vol 22 (3) ◽  
pp. 396-404 ◽  
Author(s):  
Jessica L. Mester ◽  
Sarah A. Jackson ◽  
Kristen Postula ◽  
Amy Stettner ◽  
Sheila Solomon ◽  
...  
Keyword(s):  
Hereditary Cancer ◽  
Panel Testing ◽  
Pathogenic Variants ◽  
Cancer Panel

Mosaic TP53 pathogenic variants on multi-gene hereditary cancer panel testing: Clinical characteristics and follow-up testing.

2018 ◽  
Vol 36 (15_suppl) ◽  
pp. 1580-1580
Author(s):  
Sarah A. Jackson ◽  
Maegan Roberts ◽  
Jessica L. Mester ◽  
Megan L. Marshall ◽  
Kristen J. Vogel Postula ◽  
...  
Keyword(s):  
Hereditary Cancer ◽  
Clinical Characteristics ◽  
Panel Testing ◽  
Pathogenic Variants ◽  
Cancer Panel

scholarly journals Germline multi-gene hereditary cancer panel testing in an unselected endometrial cancer cohort

2016 ◽  
Vol 29 (11) ◽  
pp. 1381-1389 ◽  
Author(s):  
Kari L Ring ◽  
Amanda S Bruegl ◽  
Brian A Allen ◽  
Eric P Elkin ◽  
Nanda Singh ◽  
...  
Keyword(s):  
Endometrial Cancer ◽  
Hereditary Cancer ◽  
Panel Testing ◽  
Cancer Panel

scholarly journals Hereditary cancer panel testing in an unselected endometrial carcinoma cohort

2016 ◽  
Vol 141 ◽  
pp. 10-11
Author(s):  
K.L. Ring ◽  
A.S. Bruegl ◽  
B.A. Allen ◽  
E.P. Elkin ◽  
N.U. Singh ◽  
...  
Keyword(s):  
Endometrial Carcinoma ◽  
Hereditary Cancer ◽  
Panel Testing ◽  
Cancer Panel

Multigene hereditary cancer panel testing for patients with pancreatic cancer.

2017 ◽  
Vol 35 (4_suppl) ◽  
pp. 244-244
Author(s):  
Anna K McGill ◽  
Sheila R Solomon ◽  
Megan L Marshall ◽  
Lisa Susswein ◽  
Corrine Fillman ◽  
...  
Keyword(s):  
Family History ◽  
Hereditary Cancer ◽  
Diagnostic Yield ◽  
Ductal Adenocarcinoma ◽  
Panel Testing ◽  
Pathogenic Variants ◽  
Gene Panel Testing ◽  
History Of ◽  
Brca1 Brca2 ◽  
Cancer Panel

244 Background: Pancreatic ductal adenocarcinoma (PC) is associated with multiple hereditary cancer syndromes. Genes implicated in hereditary PC include ATM, BRCA1, BRCA2, CDKN2A, EPCAM, MLH1, MSH2, MSH6, PALB2 and PMS2. The advent of multi-gene hereditary cancer panel testing streamlines diagnoses and medical management for clinicians and patients. Our objective was to assess the yield of pathogenic/likely pathogenic variants (PV/LPV) in individuals with PC undergoing panel testing as an initial test at GeneDx. Methods: We retrospectively reviewed panel test results of 605 individuals reporting a personal history of PC. Panel testing evaluated up to 32 genes associated with hereditary cancer. Individuals reporting neuroendocrine pathology or previous BRCA1/BRCA2 testing were excluded. Results: In this cohort, 61 PV/LPV were detected in 57 individuals in the following genes: ATM (17), BRCA2 (14), BRCA1 (5), CDKN2A (5), PALB2 (5), CHEK2 (4), MLH1 (2), MUTYH (2), PMS2 (2), BARD1 (1), FANCC (1), MSH2 (1), RAD51D (1) and TP53 (1), corresponding to a positive yield of 9.4% (57/605). Fifty-one of 61 PV/LPV were detected in genes associated with PC (84%) while 10 PV/LPV (16%) were identified in other genes including BARD1, CHEK2, FANCC, MUTYH, and RAD51D. The diagnostic yield among those reporting a family history of PC (33/294, 11.2%) was not statistically different from those without a reported family history (24/311, 7.7%). However, PV/LPV in ATM were detected more often in individuals reporting a family history of PC compared to those without a family history (4.1% vs. 1.6%, p=0.018). Conclusions: In total, 9.4% of patients with PC tested positive for PV/LPV in 14 different genes by panel testing. Although the majority of PV/LPV were identified in known PC genes, 16% of positive findings occurred in genes not typically associated with PC. ATM was most commonly implicated and more frequently reported in patients reporting family histories of PC. Assessing whether these genes are indeed causally related to PC and/or are possibly associated with other cancer types requires further investigation. Based on our results we conclude multi-gene panel testing may be considered as a first option for patients with PC regardless of their family history.

scholarly journals A Life Potentially Saved Through Hereditary Cancer Panel Testing

2017 ◽  
Vol 13 (4) ◽  
pp. 279-281
Author(s):  
Dustin Marks ◽  
Allison McHenry ◽  
Tara Biagi ◽  
Elizabeth Stark ◽  
Marie Borum ◽  
...  
Keyword(s):  
Hereditary Cancer ◽  
Panel Testing ◽  
Cancer Panel

scholarly journals Clinical Utilization, Utility, and Reimbursement for Expanded Genomic Panel Testing in Adult Oncology

2020 ◽  
pp. 1038-1048
Author(s):  
Susan J. Hsiao ◽  
Anthony N. Sireci ◽  
Danielle Pendrick ◽  
Christopher Freeman ◽  
Helen Fernandes ◽  
...  
Keyword(s):  
Clinical Practice ◽  
High Risk ◽  
Clinical Utility ◽  
Medical Center ◽  
Clinical Care ◽  
Genomic Medicine ◽  
Tumor Board ◽  
Panel Testing ◽  
Pan Cancer ◽  
Cancer Panel

PURPOSE The routine use of large next-generation sequencing (NGS) pan-cancer panels is required to identify the increasing number of, but often uncommon, actionable alterations to guide therapy. Inconsistent coverage and variable payment is hindering NGS adoption into clinical practice. A review of test utilization, clinical utility, coverage, and reimbursement was conducted in a cohort of patients diagnosed with high-risk cancer who received pan-cancer panel testing as part of their clinical care. MATERIALS AND METHODS The Columbia Combined Cancer Panel (CCCP), a 467-gene panel designed to detect DNA variations in solid and liquid tumors, was performed in the Laboratory of Personalized Genomic Medicine at Columbia University Irving Medical Center. Utilization was characterized at test order. Results were reviewed by a molecular pathologist, followed by a multidisciplinary molecular tumor board where clinical utility was classified by consensus. Reimbursement was reviewed after payers provided final coverage decisions. RESULTS NGS was performed on 359 high-risk tumors from 349 patients. Reimbursement data were available for 246 cases. The most common reason providers ordered CCCP testing was for patients diagnosed with a treatment-resistant or recurrent tumor (n = 214; 61%). Findings were clinically impactful for 229 cases (64%). Molecular alterations that may inform future therapy in the event of progression or relapse were found in 42% of cases, and a targeted therapy was initiated in 23 cases (6.6%). The majority of tests were denied coverage by payers (n = 190; 77%). On average, insurers reimbursed 10.75% of the total NGS service charge. CONCLUSION CCCP testing identified clinically impactful alterations in 64% of cases. Limited coverage and low reimbursement remain barriers, and broader reimbursement policies are needed to adopt pan-cancer NGS testing that benefits patients into clinical practice.

MG-107 Multiple pathogenic variants identified by next-generation sequencing hereditary cancer panel testing – a case report

2015 ◽  
Vol 52 (Suppl 2) ◽  
pp. A3.1-A3
Author(s):  
Christopher A Tan ◽  
Marina Rabideau ◽  
Stephanie Cohen ◽  
Shan Yang ◽  
Karen Vikstrom ◽  
...  
Keyword(s):  
Case Report ◽  
Next Generation Sequencing ◽  
Hereditary Cancer ◽  
Next Generation ◽  
Panel Testing ◽  
Pathogenic Variants ◽  
Generation Sequencing ◽  
Cancer Panel
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