Associated Papers
Discovering Hereditary Risk Through Surveillance: A Prospective Genetic Analysis of Individuals With Familial Pancreatic Cancer.
Paiella S et al.
United European Gastroenterology Journal, 2026
Site-saturation functional screens identify PALB2 missense variants associated with increased breast cancer risk.
Boonen RACM et al.
Nature Communications, 2026
Germline homologous recombination repair (gHRR) variants in bladder cancer: Preliminary evidence and clinical implications.
Hurle R et al.
Bjui Compass, 2025
Short Report: The Variants in CHEK2 in Metastatic Uveal Melanoma.
Terai M et al.
Journal of Clinical Medicine, 2025
Unrecognised actionability for breast cancer risk variants identified in a national-level review of Australian familial cancer centres.
Fortuno C et al.
European Journal of Human Genetics : Ejhg, 2024
An Analysis of Genetic Polymorphisms in 76 Genes Related to the Development of Ovarian Tumors of Different Aggressiveness.
Szafron LA et al.
International Journal of Molecular Sciences, 2024
Prevalence of the cancer-associated germline variants in Russian adults and long-living individuals: using the ACMG recommendations and computational interpreters for pathogenicity assessment.
Gusakova M et al.
Frontiers in Oncology, 2024
Characterization of BRCA Deficiency in Ovarian Cancer.
Barbero G et al.
Cancers, 2023
Integrative genomic and transcriptomic analyses illuminate the ontology of HER2-low breast carcinomas.
Berrino E et al.
Genome Medicine, 2022
Breast cancer risks associated with missense variants in breast cancer susceptibility genes.
Dorling L et al.
Genome Medicine, 2022
Outcome of Targeted Therapy Recommendations for Metastatic and Recurrent Head and Neck Cancers.
Taghizadeh H et al.
Cancers, 2020
Efficacy of immunotherapy in lung cancer with co-occurring mutations in NOTCH and homologous repair genes.
Mazzotta M et al.
Journal for Immunotherapy of Cancer, 2020
Using Co-segregation and Loss of Heterozygosity Analysis to Define the Pathogenicity of Unclassified Variants in Hereditary Breast Cancer Patients.
Grasel RS et al.
Frontiers in Oncology, 2020
Multiple primary tumors in a family with Li-Fraumeni syndrome with a TP53 germline mutation identified by next-generation sequencing.
Zampiga V et al.
The International Journal of Biological Markers, 2016
Germline mutations in BRIP1 and PALB2 in Jewish high cancer risk families.
Catucci I et al.
Familial Cancer, 2012
Germline mutations in the PALB2 gene are population specific and occur with low frequencies in familial breast cancer.
Hellebrand H et al.
Human Mutation, 2011
PALB2: a novel inactivating mutation in a Italian breast cancer family.
Balia C et al.
Familial Cancer, 2010