Multilocus Inherited Neoplasia Alleles Syndrome (MINAS): Case Series and Literature Review
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Authors
Skytte, Anne-Bine
Sunde, Lone
Lim, Derek H
Arends, Mark J
Happerfield, Lisa
Frayling, Ian M
van, Minkelen Rick
Woodward, Emma R
Publication Date
2015-12-10Journal Title
JAMA Oncology
ISSN
2374-2437
Publisher
American Medical Association
Volume
2
Pages
373-379
Language
English
Type
Article
Metadata
Show full item recordCitation
Whitworth, J., Skytte, A., Sunde, L., Lim, D. H., Arends, M. J., Happerfield, L., Frayling, I. M., et al. (2015). Multilocus Inherited Neoplasia Alleles Syndrome (MINAS): Case Series and Literature Review. JAMA Oncology, 2 373-379. https://doi.org/10.1001/jamaoncol.2015.4771
Abstract
Mendelian causes of inherited cancer susceptibility are mostly rare and characterized
by variable expression and incomplete penetrance. Phenotypic variability may result
from a range of causes including locus heterogeneity, allelic heterogeneity, genetic and
environmental modifier effects or chance. Another potential cause is the presence of
two or more inherited cancer predisposition alleles in the same individual. Though the
frequency of such occurrences might be predicted to be low, such cases have probably
been under ascertained because standard clinical practice has been to test candidate
inherited cancer genes sequentially until a pathogenic mutation is detected. However,
recent advances in next generation sequencing technologies now provide the
opportunity to perform simultaneous parallel testing of large numbers of inherited
cancer genes. Here we provide examples of patients who harbor pathogenic mutations
in multiple inherited cancer genes and review previously published examples to
illustrate the complex genotype-phenotype relationships in these cases. We suggest
that clinicians should proactively consider the likelihood of this phenomenon (referred
to here as Multilocus Inherited Neoplasia Alleles Syndrome (MINAS)) in patients with
unusual inherited cancer syndrome phenotypes. To facilitate the clinical management
of novel cases of MINAS we have established a database to collect information on
what is likely to be an increasingly recognized cohort of such individuals.
Sponsorship
J Whitworth is supported by the Cambridge Biomedical Research
Campus. E Maher is supported by the Cambridge Biomedical Research Campus and a
European Research Council researcher award.
Identifiers
External DOI: https://doi.org/10.1001/jamaoncol.2015.4771
This record's URL: https://www.repository.cam.ac.uk/handle/1810/254644
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