Literature DB >> 26590952

Germline Findings in Tumor-Only Sequencing: Points to Consider for Clinicians and Laboratories.

Victoria M Raymond1, Stacy W Gray1, Sameek Roychowdhury1, Steve Joffe1, Arul M Chinnaiyan1, D Williams Parsons1, Sharon E Plon1.   

Abstract

Precision oncology holds great potential to improve patient therapies and outcomes. Tumor sequencing is rapidly moving into clinical care as our understanding of the cancer genome and the availability of targeted therapies increase. Analysis of the cancer genome is most informative when paired with germline genomic DNA to delineate inherited and somatic variants. Although tumor-only analysis remains the most common methodology for numerous reasons, it holds the potential to identify clinically significant germline variants. Here, we provide anticipatory guidance and points to consider for laboratories and clinicians regarding the potential for germline findings in tumor sequencing.
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Year:  2015        PMID: 26590952      PMCID: PMC4849259          DOI: 10.1093/jnci/djv351

Source DB:  PubMed          Journal:  J Natl Cancer Inst        ISSN: 0027-8874            Impact factor:   13.506


  23 in total

1.  Personalized genomic analyses for cancer mutation discovery and interpretation.

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Journal:  Sci Transl Med       Date:  2015-04-15       Impact factor: 17.956

Review 2.  Pragmatic issues in biomarker evaluation for targeted therapies in cancer.

Authors:  Armand de Gramont; Sarah Watson; Lee M Ellis; Jordi Rodón; Josep Tabernero; Aimery de Gramont; Stanley R Hamilton
Journal:  Nat Rev Clin Oncol       Date:  2014-11-25       Impact factor: 66.675

3.  Molecular findings among patients referred for clinical whole-exome sequencing.

Authors:  Yaping Yang; Donna M Muzny; Fan Xia; Zhiyv Niu; Richard Person; Yan Ding; Patricia Ward; Alicia Braxton; Min Wang; Christian Buhay; Narayanan Veeraraghavan; Alicia Hawes; Theodore Chiang; Magalie Leduc; Joke Beuten; Jing Zhang; Weimin He; Jennifer Scull; Alecia Willis; Megan Landsverk; William J Craigen; Mir Reza Bekheirnia; Asbjorg Stray-Pedersen; Pengfei Liu; Shu Wen; Wendy Alcaraz; Hong Cui; Magdalena Walkiewicz; Jeffrey Reid; Matthew Bainbridge; Ankita Patel; Eric Boerwinkle; Arthur L Beaudet; James R Lupski; Sharon E Plon; Richard A Gibbs; Christine M Eng
Journal:  JAMA       Date:  2014-11-12       Impact factor: 56.272

4.  Association of multiple copies of the N-myc oncogene with rapid progression of neuroblastomas.

Authors:  R C Seeger; G M Brodeur; H Sather; A Dalton; S E Siegel; K Y Wong; D Hammond
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Review 5.  Genomics-driven oncology: framework for an emerging paradigm.

Authors:  Levi A Garraway
Journal:  J Clin Oncol       Date:  2013-04-15       Impact factor: 44.544

6.  Good laboratory practice for clinical next-generation sequencing informatics pipelines.

Authors:  Amy S Gargis; Lisa Kalman; David P Bick; Cristina da Silva; David P Dimmock; Birgit H Funke; Sivakumar Gowrisankar; Madhuri R Hegde; Shashikant Kulkarni; Christopher E Mason; Rakesh Nagarajan; Karl V Voelkerding; Elizabeth A Worthey; Nazneen Aziz; John Barnes; Sarah F Bennett; Himani Bisht; Deanna M Church; Zoya Dimitrova; Shaw R Gargis; Nabil Hafez; Tina Hambuch; Fiona C L Hyland; Ruth Ann Luna; Duncan MacCannell; Tobias Mann; Megan R McCluskey; Timothy K McDaniel; Lilia M Ganova-Raeva; Heidi L Rehm; Jeffrey Reid; David S Campo; Richard B Resnick; Perry G Ridge; Marc L Salit; Pavel Skums; Lee-Jun C Wong; Barbara A Zehnbauer; Justin M Zook; Ira M Lubin
Journal:  Nat Biotechnol       Date:  2015-07       Impact factor: 54.908

7.  Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Authors:  Sue Richards; Nazneen Aziz; Sherri Bale; David Bick; Soma Das; Julie Gastier-Foster; Wayne W Grody; Madhuri Hegde; Elaine Lyon; Elaine Spector; Karl Voelkerding; Heidi L Rehm
Journal:  Genet Med       Date:  2015-03-05       Impact factor: 8.822

8.  Tumor genome analysis includes germline genome: are we ready for surprises?

Authors:  Daniel V T Catenacci; Andrea L Amico; Sarah M Nielsen; Daniel M Geynisman; Brittany Rambo; George B Carey; Cassandra Gulden; Jim Fackenthal; Robert D Marsh; Hedy L Kindler; Olufunmilayo I Olopade
Journal:  Int J Cancer       Date:  2014-08-14       Impact factor: 7.396

9.  Recommendations for human epidermal growth factor receptor 2 testing in breast cancer: American Society of Clinical Oncology/College of American Pathologists clinical practice guideline update.

Authors:  Antonio C Wolff; M Elizabeth H Hammond; David G Hicks; Mitch Dowsett; Lisa M McShane; Kimberly H Allison; Donald C Allred; John M S Bartlett; Michael Bilous; Patrick Fitzgibbons; Wedad Hanna; Robert B Jenkins; Pamela B Mangu; Soonmyung Paik; Edith A Perez; Michael F Press; Patricia A Spears; Gail H Vance; Giuseppe Viale; Daniel F Hayes
Journal:  J Clin Oncol       Date:  2013-10-07       Impact factor: 44.544

10.  ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.

Authors:  Robert C Green; Jonathan S Berg; Wayne W Grody; Sarah S Kalia; Bruce R Korf; Christa L Martin; Amy L McGuire; Robert L Nussbaum; Julianne M O'Daniel; Kelly E Ormond; Heidi L Rehm; Michael S Watson; Marc S Williams; Leslie G Biesecker
Journal:  Genet Med       Date:  2013-06-20       Impact factor: 8.822

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  36 in total

Review 1.  Ethical considerations in genomic testing for hematologic disorders.

Authors:  Jonathan M Marron; Steven Joffe
Journal:  Blood       Date:  2017-06-09       Impact factor: 22.113

2.  From Sequence Data to Returnable Results: Ethical Issues in Variant Calling and Interpretation.

Authors:  Ingrid A Holm; Timothy W Yu; Steven Joffe
Journal:  Genet Test Mol Biomarkers       Date:  2017-02-16

Review 3.  The ins and outs of molecular pathology reporting.

Authors:  Véronique Tack; Kelly Dufraing; Zandra C Deans; Han J van Krieken; Elisabeth M C Dequeker
Journal:  Virchows Arch       Date:  2017-03-26       Impact factor: 4.064

4.  Physician Experiences and Understanding of Genomic Sequencing in Oncology.

Authors:  Caroline M Weipert; Kerry A Ryan; Jessica N Everett; Beverly M Yashar; Arul M Chinnaiyan; J Scott Roberts; Raymond De Vries; Brian J Zikmund-Fisher; Victoria M Raymond
Journal:  J Genet Couns       Date:  2017-08-24       Impact factor: 2.537

Review 5.  Familial pancreatic cancer.

Authors:  Gloria M Petersen
Journal:  Semin Oncol       Date:  2016-09-22       Impact factor: 4.929

6.  A Pilot Study of Clinical Targeted Next Generation Sequencing for Prostate Cancer: Consequences for Treatment and Genetic Counseling.

Authors:  Heather H Cheng; Nola Klemfuss; Bruce Montgomery; Celestia S Higano; Michael T Schweizer; Elahe A Mostaghel; Lisa G McFerrin; Evan Y Yu; Peter S Nelson; Colin C Pritchard
Journal:  Prostate       Date:  2016-06-21       Impact factor: 4.104

7.  POT1 mutation spectrum in tumour types commonly diagnosed among POT1-associated hereditary cancer syndrome families.

Authors:  Erica Shen; Joanne Xiu; Giselle Y Lopez; Rex Bentley; Ali Jalali; Amy B Heimberger; Matthew N Bainbridge; Melissa L Bondy; Kyle M Walsh
Journal:  J Med Genet       Date:  2020-01-14       Impact factor: 6.318

8.  Germline Analysis from Tumor-Germline Sequencing Dyads to Identify Clinically Actionable Secondary Findings.

Authors:  Bryce A Seifert; Julianne M O'Daniel; Krunal Amin; Daniel S Marchuk; Nirali M Patel; Joel S Parker; Alan P Hoyle; Lisle E Mose; Andrew Marron; Michele C Hayward; Christopher Bizon; Kirk C Wilhelmsen; James P Evans; H Shelton Earp; Norman E Sharpless; D Neil Hayes; Jonathan S Berg
Journal:  Clin Cancer Res       Date:  2016-04-15       Impact factor: 12.531

Review 9.  Standards and Guidelines for the Interpretation and Reporting of Sequence Variants in Cancer: A Joint Consensus Recommendation of the Association for Molecular Pathology, American Society of Clinical Oncology, and College of American Pathologists.

Authors:  Marilyn M Li; Michael Datto; Eric J Duncavage; Shashikant Kulkarni; Neal I Lindeman; Somak Roy; Apostolia M Tsimberidou; Cindy L Vnencak-Jones; Daynna J Wolff; Anas Younes; Marina N Nikiforova
Journal:  J Mol Diagn       Date:  2017-01       Impact factor: 5.568

10.  Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine.

Authors:  Robert C Green; Katrina A B Goddard; Gail P Jarvik; Laura M Amendola; Paul S Appelbaum; Jonathan S Berg; Barbara A Bernhardt; Leslie G Biesecker; Sawona Biswas; Carrie L Blout; Kevin M Bowling; Kyle B Brothers; Wylie Burke; Charlisse F Caga-Anan; Arul M Chinnaiyan; Wendy K Chung; Ellen W Clayton; Gregory M Cooper; Kelly East; James P Evans; Stephanie M Fullerton; Levi A Garraway; Jeremy R Garrett; Stacy W Gray; Gail E Henderson; Lucia A Hindorff; Ingrid A Holm; Michelle Huckaby Lewis; Carolyn M Hutter; Pasi A Janne; Steven Joffe; David Kaufman; Bartha M Knoppers; Barbara A Koenig; Ian D Krantz; Teri A Manolio; Laurence McCullough; Jean McEwen; Amy McGuire; Donna Muzny; Richard M Myers; Deborah A Nickerson; Jeffrey Ou; Donald W Parsons; Gloria M Petersen; Sharon E Plon; Heidi L Rehm; J Scott Roberts; Dan Robinson; Joseph S Salama; Sarah Scollon; Richard R Sharp; Brian Shirts; Nancy B Spinner; Holly K Tabor; Peter Tarczy-Hornoch; David L Veenstra; Nikhil Wagle; Karen Weck; Benjamin S Wilfond; Kirk Wilhelmsen; Susan M Wolf; Julia Wynn; Joon-Ho Yu
Journal:  Am J Hum Genet       Date:  2016-05-12       Impact factor: 11.025

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