Management of patients with presumed germline pathogenic variant from tumor-only genomic sequencing: A retrospective analysis at a single facility

Sunami K, Naito Y, Aimono E, Amano T, Ennishi D, Kage H, et al. The initial assessment of expert panel performance in core hospitals for cancer genomic medicine in Japan. Int J Clin Oncol. 2021;26:443–9.

Article  PubMed  PubMed Central  Google Scholar 

Raymond VM, Gray SW, Roychowdhury S, Joffe S, Chinnaiyan AM, Parsons DW, et al. Germline findings in tumor-only sequencing: points to consider for clinicians and laboratories. J Natl Cancer Inst. 2015;108:djv351.

Article  PubMed  PubMed Central  Google Scholar 

Clark DF, Maxwell KN, Powers J, Lieberman DB, Ebrahimzadeh J, Long JM, et al. Identification and confirmation of potentially actionable germline mutations in tumor-only genomic sequencing. JCO Precis Oncol. 2019;3:PO.19.00076.

PubMed  PubMed Central  Google Scholar 

Garofalo A, Sholl L, Reardon B, Taylor-Weiner A, Amin-Mansour A, Miao D, et al. The impact of tumor profiling approaches and genomic data strategies for cancer precision medicine. Genome Med. 2016;8:79.

Article  PubMed  PubMed Central  Google Scholar 

Miller DT, Lee K, Chung WK, Gordon AS, Herman GE, Klein TE, et al. ACMG SF v3.0 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of the American College of Medical Genetics and Genomics (ACMG). Genet Med 2021;23:1381–90. [published correction appears in Genet Med. 2021; 23:1582–4]

Article  PubMed  Google Scholar 

Mandelker D, Donoghue M, Talukdar S, Bandlamudi C, Srinivasan P, Vivek M, et al. Germline-focussed analysis of tumour-only sequencing: recommendations from the ESMO Precision Medicine Working Group. Ann Oncol. 2019;30:1221–31.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Japanese Society of Medical Oncology, Japanese Society of Clinical Oncology, Japanese Cancer Association. Clinical practice guidance for next-generation sequencing in cancer diagnosis and treatment, edition 2.1. 2020. https://www.jsmo.or.jp/about/doc/20200310.pdf.

Frampton GM, Fichtenholtz A, Otto GA, Wang K, Downing SR, He J, et al. Development and validation of a clinical cancer genomic profiling test based on massively parallel DNA sequencing. Nat Biotechnol. 2013;31:1023–31.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Woodhouse R, Li M, Hughes J, Delfosse D, Skoletsky J, Ma P, et al. Clinical and analytical validation of FoundationOne liquid CDx, a novel 324-gene cfDNA-based comprehensive genomic profiling assay for cancers of solid tumor origin. PLoS One. 2020;15:e0237802.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Sunami K, Ichikawa H, Kubo T, Kato M, Fujiwara Y, Shimomura A, et al. Feasibility and utility of a panel testing for 114 cancer-associated genes in a clinical setting: a hospital-based study. Cancer Sci. 2019;110:1480–90.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Guidelines for the Communication Process in Genomic Medicine. Part 2: Specific principles of comprehensive germline genetic analysis using next-generation sequencing [Revised 2nd edition]. https://k103E_guidelines_part2_210908.pdf (Kyoto-u.ac.jp).

A document for consideration of secondary findings in tumor genomic profiling test (Ver1.0_20210816). https://www.amed.go.jp/content/000087774.pdf.

Mukai Y, Ueno H. Establishment and implementation of cancer genomic medicine in Japan. Cancer Sci. 2021;112:970–7.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Shirota H, Komine K, Takahashi M, Takahashi S, Miyauchi E, Niizuma H, et al. Clinical decisions by the molecular tumor board on comprehensive genomic profiling tests in Japan: A retrospective observational study. Cancer Med. 2022. https://doi.org/10.1002/cam4.5349. Epub ahead of print.

Klek S, Heald B, Milinovich A, Ni Y, Abraham J, Mahdi H, et al. Genetic counseling and germline testing in the era of tumor sequencing: a cohort study. JNCI Cancer Spectr. 2020;4:pkaa018.

Article  PubMed  PubMed Central  Google Scholar 

Jalloul N, Gomy I, Stokes S, Gusev A, Johnson BE, Lindeman NI, et al. Germline testing data validate inferences of mutational status for variants detected from tumor-only sequencing. JCO Precis Oncol. 2021;5:PO.21.00279.

PubMed  PubMed Central  Google Scholar 

Kondo T, Yamamoto Y, Fukuyama K, Kanai M, Yamada A, Matsubara J, et al. Germline sequencing for presumed germline pathogenic variants via tumor-only comprehensive genomic profiling. Int J Clin Oncol. 2022;27:1256–63.

Article  CAS  PubMed  Google Scholar 

Steele CD, Abbasi A, Islam SMA, Bowes AL, Khandekar A, Haase K, et al. Signatures of copy number alterations in human cancer. Nature 2022;606:984–91.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Soussi T, Kato S, Levy PP, Ishioka C. Reassessment of the TP53 mutation database in human disease by data mining with a library of TP53 missense mutations. Hum Mutat. 2005;25:6–17.

Article  CAS  PubMed  Google Scholar 

Minamoto A, Yamada T, Shimada S, Kinoshita I, Aoki Y, Oda K, et al. Current status and issues related to secondary findings in the first public insurance covered tumor genomic profiling in Japan: multi-site questionnaire survey. J Hum Genet. 2022;67:557–63.

Article  PubMed  Google Scholar 

Hiromoto K, Yamada T, Tsuchiya M, Kawame H, Nanba E, Goto Y, et al. Challenges of secondary finding disclosure in genomic medicine in rare diseases: A nation-wide survey of Japanese facilities outsourcing comprehensive genetic testing. J Hum Genet. 2023;68:1–9.

Shimada S, Yamada T, Iwakuma M, Kosugi S. Physicians’ perceptions of the factors influencing disclosure of secondary findings in tumour genomic profiling in Japan: a qualitative study. Eur J Hum Genet. 2022;30:88–94.

Article  PubMed  Google Scholar 

留言 (0)

沒有登入
gif