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View article: Health Behaviors and Cancer Diagnosis Among Individuals with Pathogenic Variants Associated with Hereditary Breast and Ovarian Cancer or Lynch Syndrome
Health Behaviors and Cancer Diagnosis Among Individuals with Pathogenic Variants Associated with Hereditary Breast and Ovarian Cancer or Lynch Syndrome Open
Background/Objectives: Individuals carrying hereditary breast and ovarian cancer (HBOC) and Lynch Syndrome (LS)-associated pathogenic variants have increased risk for cancers. The study examined the association between cancer diagnosis and…
View article: Exome-based cancer predisposition gene testing can provide a genetic diagnosis for individuals with heterogeneous tumor phenotypes
Exome-based cancer predisposition gene testing can provide a genetic diagnosis for individuals with heterogeneous tumor phenotypes Open
The development of multiple primary tumors is one of the hallmarks of hereditary cancer. The phenotypic presentation of individuals with multiple primary tumors is often heterogeneous, which hampers the establishment of a genetic diagnosis…
View article: Navigating complex choices through legitimation: Narrative strategies in risk-reduction mastectomy decision-making among unaffected women with genetic risk for breast cancer in Switzerland
Navigating complex choices through legitimation: Narrative strategies in risk-reduction mastectomy decision-making among unaffected women with genetic risk for breast cancer in Switzerland Open
View article: The heterogeneous cancer phenotype of individuals with biallelic germline pathogenic variants in CHEK2
The heterogeneous cancer phenotype of individuals with biallelic germline pathogenic variants in CHEK2 Open
View article: RADX Gene Variant May Predispose to Familial Asperger Syndrome
RADX Gene Variant May Predispose to Familial Asperger Syndrome Open
Asperger syndrome (AS) is a pervasive developmental disorder characterized by general impairment in socialization, stereotypical behavior, defective adaptation to the social context usually without intellectual disability, and some high fu…
View article: Genotype-phenotype associations in a large PTEN Hamartoma Tumor Syndrome (PHTS) patient cohort
Genotype-phenotype associations in a large PTEN Hamartoma Tumor Syndrome (PHTS) patient cohort Open
View article: Burkitt lymphoma as fourth neoplasia in a patient affected by Cowden Syndrome with a novel PTEN germline pathogenic variant
Burkitt lymphoma as fourth neoplasia in a patient affected by Cowden Syndrome with a novel PTEN germline pathogenic variant Open
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View article: DNA Methylation in the Diagnosis of Monogenic Diseases
DNA Methylation in the Diagnosis of Monogenic Diseases Open
DNA methylation in the human genome is largely programmed and shaped by transcription factor binding and interaction between DNA methyltransferases and histone marks during gamete and embryo development. Normal methylation profiles can be …
View article: Prognostic and therapeutic role of targetable lesions in B-lineage acute lymphoblastic leukemia without recurrent fusion genes
Prognostic and therapeutic role of targetable lesions in B-lineage acute lymphoblastic leukemia without recurrent fusion genes Open
To shed light into the molecular bases of B-lineage acute lymphoblastic leukemia lacking known fusion transcripts, i.e. BCR-ABL1, ETV6-RUNX1, E2A-PBX1, and MLL rearrangements (B-NEG ALL) and the differences between children, adolescents/yo…
View article: CRLF2 overexpression identifies an unfavourable subgroup of adult B-cell precursor acute lymphoblastic leukemia lacking recurrent genetic abnormalities
CRLF2 overexpression identifies an unfavourable subgroup of adult B-cell precursor acute lymphoblastic leukemia lacking recurrent genetic abnormalities Open
View article: CD45 antigen negativity in T-lineage ALL correlates with<i>PTPRC</i>mutation and sensitivity to a selective JAK inhibitor
CD45 antigen negativity in T-lineage ALL correlates with<i>PTPRC</i>mutation and sensitivity to a selective JAK inhibitor Open
The tyrosine phosphatase CD45 is a transmembrane protein encoded by the PTPRC gene, well known as a key regulator of B- and T-cell receptor signalling, which plays a role also as an inhibitor of JAK kinases (Irie-Sasaki et al, 2001; Saunde…