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. 2024 Dec 18;18(1):137.
doi: 10.1186/s40246-024-00706-5.

Two recurrent pathogenic/likely pathogenic variants in PALB2 account for half of PALB2 positive families in Slovenia

Vita Andreja Mesarič  1   2 , Ana Blatnik  2   3 , Kristina Drusany Starič  1   2 , Ksenija Strojnik  3 , Vida Stegel  2   3 , Simona Hotujec  3 , Vita Šetrajčič Dragoš  2   3 , Petra Škerl  3 , Srdjan Novaković  2   3 , Mateja Krajc  4   5
Affiliations

Two recurrent pathogenic/likely pathogenic variants in PALB2 account for half of PALB2 positive families in Slovenia

Vita Andreja Mesarič et al. Hum Genomics. .
No abstract available

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Conflict of interest statement

Declarations. Ethics approval: All participants provided written informed consent. The present study was approved by the National Ethics Committee and the Institutional Ethics Committee of the Institute of Oncology Ljubljana (0120–591/2020/3 on the 20th of January 2021). Research was conducted according to the 1975 Helsinki Declaration as revised in 1983 and the procedures used met the ethical standards of these bodies. Competing interests: The authors declare no competing interests.

Figures

Fig. 1
Fig. 1
A lollipop plot showcasing all PV/LPV in the PALB2 gene identified within our cohort. The plot was created using MutationMapper [20, 21]
Fig. 2
Fig. 2
PV/LPV variant, type of cancer and age at diagnosis in PALB2 PV/LPV carriers
See this image and copyright information in PMC

References

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