Early-onset ovarian cancer< 30 years: what do we know about its genetic predisposition?

K Horackova, M Janatova, P Kleiblova, Z Kleibl… - International Journal of …, 2023 - mdpi.com
Ovarian cancer (OC) is one of the leading causes of cancer-related deaths in women. Most
patients are diagnosed with advanced epithelial OC in their late 60s, and early-onset adult …

[HTML][HTML] Fanconi anemia

PA Mehta, C Ebens - 2021 - europepmc.org
Fanconi anemia (FA) is characterized by physical abnormalities, bone marrow failure, and
increased risk for malignancy. Physical abnormalities, present in approximately 75% of …

Comprehensive germline-genomic and clinical profiling in 160 unselected children and adolescents with cancer

R Wagener, J Taeubner, C Walter, L Yasin… - European Journal of …, 2021 - nature.com
In childhood cancer, the frequency of cancer-associated germline variants and their
inheritance patterns are not thoroughly investigated. Moreover, the identification of children …

Germ line variants in patients with acute myeloid leukemia without a suspicion of hereditary hematologic malignancy syndrome

F Guijarro, M López-Guerra, J Morata… - Blood …, 2023 - ashpublications.org
Germ line predisposition in acute myeloid leukemia (AML) has gained attention in recent
years because of a nonnegligible frequency and an impact on management of patients and …

Copy Number Variations (CNVs) account for 10.8% of pathogenic variants in patients referred for hereditary cancer testing

K Agiannitopoulos, G Pepe, GN Tsaousis… - Cancer genomics & …, 2023 - cgp.iiarjournals.org
Abstract Background/Aim: Germline copy number variation (CNV) is a type of genetic variant
that predisposes significantly to inherited cancers. Today, next-generation sequencing …

Fanconi anemia proteins and genome fragility: unraveling replication defects for cancer therapy

NB Fajardo, S Taraviras, Z Lygerou - Trends in Cancer, 2022 - cell.com
Accurate and complete genome duplication is crucial to maintain cell survival and prevent
malignant transformation. The Fanconi anemia (FA) pathway has traditionally been …

[HTML][HTML] Fanconi anemia

J Bhandari, PK Thada, RB Killeen, Y Puckett - StatPearls [Internet], 2024 - ncbi.nlm.nih.gov
Objectives: Identify the etiology of Fanconi anemia. Describe the appropriate evaluation of
Fanconi anemia. Outline the management options available for Fanconi anemia. Summarize …

Fanconi anemia pathway regulation by FANCI in prostate cancer

H Kaljunen, S Taavitsainen, R Kaarijärvi… - Frontiers in …, 2023 - frontiersin.org
Prostate cancer is one of the leading causes of death among men worldwide, and thus,
research on the genetic factors enabling the formation of treatment-resistant cancer cells is …

A comprehensive analysis of Fanconi anemia genes in Chinese patients with high-risk hereditary breast cancer

QY Zhu, PC Li, YF Zhu, JN Pan, R Wang, XL Li… - Journal of Cancer …, 2023 - Springer
Abstract Background Four Fanconi anemia (FA) genes (BRCA1, BRCA2, PALB2 and
RAD51C) are defined as breast cancer (BC) susceptibility genes. Other FA genes have …

Metastasising ameloblastoma or ameloblastic carcinoma? A case report with mutation analyses

P Hurník, BM Putnová, T Ševčíková, E Hrubá, I Putnová… - BMC Oral Health, 2023 - Springer
Background Ameloblastic carcinoma and metastasising ameloblastoma are rare epithelial
odontogenic tumours with aggressive features. Distinguishing between these two lesions is …