Report of a germline double heterozygote in <i>MSH2</i> and <i>PALB2</i>

Αγιαννιτόπουλος, Κωνσταντίνος; Papadopoulou, Eirini; Tsaousis, Georgios N.; Pepe, Georgia; Kampouri, Stavroula; Patsea, Eleni; Lypas, G.; Nasioulas, George

doi:10.1002/mgg3.1242

Cited by 2 publications

(1 citation statement)

References 29 publications

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“…Nevertheless, they provide a good reason why reflex testing for germline mutations should be avoided. In some cases, the different mutated genes give information about multiple cancer types and may explain the genetic history of different sides of the family history and the occurrence of diverse cancers in the family (38).…”

Section: Genes With Insufficient Evidence For Breast Cancer Riskmentioning

confidence: 99%

Revisiting the Implications of Positive Germline Testing Results Using Multi-gene Panels in Breast Cancer Patients

Tsaousis

Papadopoulou

Αγιαννιτόπουλος

et al. 2021

Cancer Genomics Proteomics

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Background/Aim: The use of multi-gene panels for germline testing in breast cancer enables the estimation of cancer risk and guides risk-reducing management options. The aim of this study was to present data that demonstrate the different levels of actionability for multi-gene panels used in genetic testing of breast cancer patients and their family members. Materials and Methods:We performed an analysis in our clinical database to identify breast cancer patients undergoing genetic testing. We reviewed positive results in respect of risk estimation and management, cascade family testing, secondary findings and information for treatment decision-making. Results: A total of 415 positive test reports were identified with 57.1%, 18.1%, 10.8% and 13.5% of individuals having pathogenic/likely pathogenic variants in high, moderate, low and with insufficient evidence for breast cancer risk genes, respectively. Six point seven percent of 60 This article is freely accessible online.

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Section: Genes With Insufficient Evidence For Breast Cancer Riskmentioning

confidence: 99%

Revisiting the Implications of Positive Germline Testing Results Using Multi-gene Panels in Breast Cancer Patients

Tsaousis

Papadopoulou

Αγιαννιτόπουλος

et al. 2021

Cancer Genomics Proteomics

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

Mesarič,

Blatnik,

Starič

et al. 2024

Preprint

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Introduction: The prevalence and spectrum of PALB2 pathogenic/likely pathogenic variants (PV/LPVs) may vary across different regions, and these have not yet been analysed and reported in Slovenian HBOC families. Methods: We performed a retrospective analysis of all 5099 consecutively tested individuals from 4610 families who fulfilled national criteria for HBOC-panel testing from January 2015 to January 2022. After genetic counselling, genetic testing with next generation sequencing was performed for all probands and cascade testing was offered to their blood relatives. Results: Among all probands tested 0.9% (40/4610) were PALB2 PV/LPV carriers. 14 different PALB2 PV/LPVs were detected, one of them was novel. Five PV/LPVs were found to be recurrent in Slovenian population with two most frequent being c.509_510del and c.1451T > A. Altogether, 61 individuals from 41 PALB2 positive families were identified, 43 being cancer patients. 27.9% PALB2-positive cancer patients were diagnosed with more than one malignant tumour. We identified three double heterozygote carriers with additional PV/LPVs in ATM, CHEK2 and BRCA1. Discussion: This report provides the first comprehensive description of molecular and clinical characteristics of PALB2 carriers in Slovenia. The frequency of PALB2 pathogenic variants in the Slovenian HBOC accounts for 0.9% of all individuals tested for PVs in HBOC-related genes. Our study adds a novel recurrent mutation, which is unique to the Slovenian context and one PV/LPVs, which had not been reported in the literature so far. The results of our study add information on genotype and phenotype in PALB2-positive patients and may be used for population specific assessment. Ethics approval: 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).

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Report of a germline double heterozygote in MSH2 and PALB2

Cited by 2 publications

References 29 publications

Revisiting the Implications of Positive Germline Testing Results Using Multi-gene Panels in Breast Cancer Patients

Revisiting the Implications of Positive Germline Testing Results Using Multi-gene Panels in Breast Cancer Patients

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

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