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Li-Fraumeni syndrome: not a straightforward diagnosis anymore—the interpretation of pathogenic variants of low allele frequency and the differences between germline PVs, mosaicism, and clonal hematopoiesis

Crossref DOI link: https://doi.org/10.1186/s13058-019-1193-1

Published Online: 2019-09-18

Published Print: 2019-12

Update policy: https://doi.org/10.1007/springer_crossmark_policy

Authors

Batalini, Felipe

Peacock, Ellie G.

Stobie, Lindsey

Robertson, Alison

Garber, Judy

Weitzel, Jeffrey N.

Tung, Nadine M. https://orcid.org/0000-0003-1422-3734
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Text and Data Mining valid from 2019-09-18

Version of Record valid from 2019-09-18
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Article History

Received: 2 April 2019

Accepted: 28 August 2019

First Online: 18 September 2019

Ethics approval and consent to participate

: There was no involvement of human participants/subjects, human data, or human tissue.

: The manuscript does not contain any individual person’s data in any form.

: NT reported research funding from AstraZeneca. JG reported consulting for Helix Genetics, Konica-Minolta, and Novartis (spouse) and research support from Invitae, Ambry, and AstraZeneca. FB, EP, LS, AR, and JW declare that they have no competing interests.

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