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Editorial
. 2023 Jun 30;11(3):101003.
doi: 10.1016/j.gendis.2023.04.034. eCollection 2024 May.

The germline genetics of mild-to-moderate penetrance: An intriguing role of PRAME in multiple carcinogenesis

Diaddin Hamdan  1   2 , Van Tai Nguyen  1   3 , Justine Paris  1 , Christophe Leboeuf  1 , Morad El Bouchtaoui  1 , Marc Espié  4 , Anne Janin  1 , Géraldine Falgarone  1   5   6 , Mélanie Di Benedetto  1   5 , Guilhem Bousquet  1   5   7
Affiliations
Editorial

The germline genetics of mild-to-moderate penetrance: An intriguing role of PRAME in multiple carcinogenesis

Diaddin Hamdan et al. Genes Dis. .
No abstract available

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Figures

Fig. 1
Figure 1
PRAME at the cornerstone of a case with multiple carcinogenesis. (A) Genealogic tree. (B) Region of LOH on chromosome 22 in breast, thyroid, and oncocytoma tumor samples using OnscoScan™, with corresponding genes and their functional classification. (C) Structure of the PRAME protein. The arrow shows the protein modification linked to the c.70 C>G p.Arg24Gly PRAME mutation. (D) Immunostaining for PRAME and PS100 in the breast and thyroid cancers of our patient. A melanoma lymph node metastasis is used as a positive control. Bar scale = 20 μm. (E) RTqPCR on laser-microdissected cells shows almost no mRNA expression of PRAME in the breast and thyroid cancer cells of our patient, compared with melanoma cells (error bars with a standard deviation of 5%). ∗P < 0.01.
See this image and copyright information in PMC

References

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