In:
International Journal of Cancer, Wiley, Vol. 146, No. 1 ( 2020-01), p. 103-114
Abstract:
What's new? A rare disease exclusively affecting women, pulmonary lymphangioleiomyomatosis (LAM) typically emerges spontaneously and appears to be infrequently associated with genetic alterations. Little is known, however, about genetic variants in LAM, owing to a lack of biopsy specimens. Here, cell‐free DNA analysis on LAM patient blood samples, carried out using next‐generation sequencing technology, uncovered recurring somatic mutations in 40 cancer‐related genes in LAM. A subset of these genes was found to form a gene–gene interaction network. Moreover, several potential driver genes, among them BRCA2 and RAD50, were identified and characterized as possible markers for novel LAM interventions.
Type of Medium:
Online Resource
ISSN:
0020-7136
,
1097-0215
Language:
English
Publisher:
Wiley
Publication Date:
2020
detail.hit.zdb_id:
218257-9
detail.hit.zdb_id:
1474822-8
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