Literature DB >> 31570381

Tumor-Based Genetic Testing and Familial Cancer Risk.

Andrea Forman1, Jilliane Sotelo2.   

Abstract

As genetic testing on somatic tumor tissue becomes a more routine part of personalized cancer treatment, a growing opportunity arises to identify hereditary germline variants within those results. These germline results can affect future cancer screening for both patients and their family members. Finding this germline information can be complicated as a result of differences between somatic and germline testing processes, nomenclature, and outcome goals (e.g., treatment impact). The goal of this review is to highlight differences between somatic and germline testing and outline a potential guide to allow for appropriate clinical interpretation of somatic testing results in order to better facilitate genetic counseling referrals and confirmatory germline testing.
Copyright © 2020 Cold Spring Harbor Laboratory Press; all rights reserved.

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Year:  2020        PMID: 31570381      PMCID: PMC7397843          DOI: 10.1101/cshperspect.a036590

Source DB:  PubMed          Journal:  Cold Spring Harb Perspect Med        ISSN: 2157-1422            Impact factor:   5.159


  93 in total

Review 1.  Clinical practice guidelines for multiple endocrine neoplasia type 1 (MEN1).

Authors:  Rajesh V Thakker; Paul J Newey; Gerard V Walls; John Bilezikian; Henning Dralle; Peter R Ebeling; Shlomo Melmed; Akihiro Sakurai; Francesco Tonelli; Maria Luisa Brandi
Journal:  J Clin Endocrinol Metab       Date:  2012-06-20       Impact factor: 5.958

2.  Next-generation sequencing-based multigene mutational screening for acute myeloid leukemia using MiSeq: applicability for diagnostics and disease monitoring.

Authors:  Rajyalakshmi Luthra; Keyur P Patel; Neelima G Reddy; Varan Haghshenas; Mark J Routbort; Michael A Harmon; Bedia A Barkoh; Rashmi Kanagal-Shamanna; Farhad Ravandi; Jorge E Cortes; Hagop M Kantarjian; L Jeffrey Medeiros; Rajesh R Singh
Journal:  Haematologica       Date:  2013-10-18       Impact factor: 9.941

3.  Lengthening and shortening of plasma DNA in hepatocellular carcinoma patients.

Authors:  Peiyong Jiang; Carol W M Chan; K C Allen Chan; Suk Hang Cheng; John Wong; Vincent Wai-Sun Wong; Grace L H Wong; Stephen L Chan; Tony S K Mok; Henry L Y Chan; Paul B S Lai; Rossa W K Chiu; Y M Dennis Lo
Journal:  Proc Natl Acad Sci U S A       Date:  2015-02-02       Impact factor: 11.205

4.  Evaluation of cell-free tumour DNA and RNA in patients with breast cancer and benign breast disease.

Authors:  Heidi Schwarzenbach; Volkmar Müller; Karin Milde-Langosch; Bettina Steinbach; Klaus Pantel
Journal:  Mol Biosyst       Date:  2011-07-22

Review 5.  A National Cancer Institute Workshop on Microsatellite Instability for cancer detection and familial predisposition: development of international criteria for the determination of microsatellite instability in colorectal cancer.

Authors:  C R Boland; S N Thibodeau; S R Hamilton; D Sidransky; J R Eshleman; R W Burt; S J Meltzer; M A Rodriguez-Bigas; R Fodde; G N Ranzani; S Srivastava
Journal:  Cancer Res       Date:  1998-11-15       Impact factor: 12.701

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

Authors:  Victoria M Raymond; Stacy W Gray; Sameek Roychowdhury; Steve Joffe; Arul M Chinnaiyan; D Williams Parsons; Sharon E Plon
Journal:  J Natl Cancer Inst       Date:  2015-11-20       Impact factor: 13.506

7.  Clinical validation of a next-generation sequencing screen for mutational hotspots in 46 cancer-related genes.

Authors:  Rajesh R Singh; Keyur P Patel; Mark J Routbort; Neelima G Reddy; Bedia A Barkoh; Brian Handal; Rashmi Kanagal-Shamanna; Wesley O Greaves; L Jeffrey Medeiros; Kenneth D Aldape; Rajyalakshmi Luthra
Journal:  J Mol Diagn       Date:  2013-06-26       Impact factor: 5.568

Review 8.  Medullary thyroid cancer: management guidelines of the American Thyroid Association.

Authors:  Richard T Kloos; Charis Eng; Douglas B Evans; Gary L Francis; Robert F Gagel; Hossein Gharib; Jeffrey F Moley; Furio Pacini; Matthew D Ringel; Martin Schlumberger; Samuel A Wells
Journal:  Thyroid       Date:  2009-06       Impact factor: 6.568

9.  Donor cell leukemia arising from clonal hematopoiesis after bone marrow transplantation.

Authors:  Lukasz P Gondek; Gang Zheng; Richard Jones; Christopher D Gocke; Gabriel Ghiaur; Amy E DeZern; William Matsui; Srinivasan Yegnasubramanian; Ming-Tseh Lin; Mark Levis; James R Eshleman; Ravi Varadhan; Noah Tucker
Journal:  Leukemia       Date:  2016-03-15       Impact factor: 11.528

10.  Automated size selection for short cell-free DNA fragments enriches for circulating tumor DNA and improves error correction during next generation sequencing.

Authors:  Sabine Hellwig; David A Nix; Keith M Gligorich; John M O'Shea; Alun Thomas; Carrie L Fuertes; Preetida J Bhetariya; Gabor T Marth; Mary P Bronner; Hunter R Underhill
Journal:  PLoS One       Date:  2018-07-25       Impact factor: 3.240

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  3 in total

1.  Identification and Management of Pathogenic Variants in BRCA1, BRCA2, and PALB2 in a Tumor-Only Genomic Testing Program.

Authors:  Brittany L Bychkovsky; Tianyu Li; Jilliane Sotelo; Nabihah Tayob; Joanna Mercado; Israel Gomy; Anu Chittenden; Sarah Kane; Samantha Stokes; Melissa E Hughes; Ji Seok Kim; Renato Umeton; Mark M Awad; Panagiotis A Konstantinopoulos; Matthew B Yurgelun; Brian M Wolpin; Mary-Ellen Taplin; Randall E Newmark; Bruce E Johnson; Neal I Lindeman; Laura E MacConaill; Judy E Garber; Nancy U Lin
Journal:  Clin Cancer Res       Date:  2022-06-01       Impact factor: 13.801

Review 2.  Genetic Counseling and the Central Tenets of Practice.

Authors:  Barbara Biesecker
Journal:  Cold Spring Harb Perspect Med       Date:  2020-03-02       Impact factor: 6.915

3.  The Efficacy and Safety of Anlotinib Alone and in Combination with Other Drugs in Advanced Lung Cancer: A Retrospective Cohort Study.

Authors:  Lei Li; Hui Zhang; Yalin Xie; Ning Su; Shan Su; Xianlan Zhang; Wenchang Cen
Journal:  Comput Math Methods Med       Date:  2022-02-25       Impact factor: 2.238

  3 in total

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