2021
DOI: 10.1016/j.ejmg.2021.104141
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Homozygosity for the pathogenic RET hotspot variant p.Cys634Trp: A consanguineous family with MEN2A

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Cited by 3 publications
(4 citation statements)
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“…No cases of acromegaly alone were reported in association with the Val804Met alteration. Nevertheless, as reported above (and considering the huge amount of data on the mutational effect given on each affected RET-domain [11]), we could still definitively make the assessment that the V804M alteration is a low penetrance mutation. The related phenotype can be due to both environmental and possibly coexisting modifier genes.…”
Section: Ret (10q112) Is a Proto-oncogene Encoding For A Receptor Tyr...mentioning
confidence: 89%
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“…No cases of acromegaly alone were reported in association with the Val804Met alteration. Nevertheless, as reported above (and considering the huge amount of data on the mutational effect given on each affected RET-domain [11]), we could still definitively make the assessment that the V804M alteration is a low penetrance mutation. The related phenotype can be due to both environmental and possibly coexisting modifier genes.…”
Section: Ret (10q112) Is a Proto-oncogene Encoding For A Receptor Tyr...mentioning
confidence: 89%
“…AIP-mutated patients typically develop isolated, large, and invasive PitNETs that are resistant to conventional treatments. Histological studies often show sparsely granulated cytokeratin tumor patterns with absent or low expression of the somatostatin receptor 2 (SSTR2) [7,8,11,12].…”
Section: Introductionmentioning
confidence: 99%
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“…For the minority of carriers of homozygous RET mutations who almost always are the result of consanguinity, the pace of malignant progression may be faster due to bi-allelic RET activation [19]. Such bi-allelic effects are more conspicuous in the presence of weakly activating RET mutations, specifically RET p.Val804Met mutations [20].…”
Section: Key Pointsmentioning
confidence: 99%