The Fanconi anemia DNA damage repair pathway in the spotlight for germline predisposition to colorectal cancer

C Esteban-Jurado, S Franch-Expósito… - European Journal of …, 2016 - nature.com
Colorectal cancer (CRC) is one of the most common neoplasms in the world. Fanconi
anemia (FA) is a very rare genetic disease causing bone marrow failure, congenital growth …

Exploring the role of mutations in Fanconi anemia genes in hereditary cancer patients

J Del Valle, P Rofes, JM Moreno-Cabrera… - Cancers, 2020 - mdpi.com
Fanconi anemia (FA) is caused by biallelic mutations in FA genes. Monoallelic mutations in
five of these genes (BRCA1, BRCA2, PALB2, BRIP1 and RAD51C) increase the …

[HTML][HTML] Germline mutations in FAN1 cause hereditary colorectal cancer by impairing DNA repair

N Seguí, LB Mina, C Lázaro, R Sanz-Pamplona… - Gastroenterology, 2015 - Elsevier
Identification of genes associated with hereditary cancers facilitates management of patients
with family histories of cancer. We performed exome sequencing of DNA from 3 individuals …

[HTML][HTML] Biallelic truncating FANCM mutations cause early-onset cancer but not Fanconi anemia

M Bogliolo, D Bluteau, J Lespinasse, R Pujol… - Genetics in …, 2018 - Elsevier
Purpose Mutations in genes involved in Fanconi anemia (FA)/BRCA DNA repair pathway
cause cancer susceptibility diseases including familial breast cancer and Fanconi anemia …

[HTML][HTML] Genotype-phenotype and outcome associations in patients with Fanconi anemia: the National Cancer Institute cohort

B Altintas, N Giri, LJ McReynolds, A Best, BP Alter - Haematologica, 2023 - ncbi.nlm.nih.gov
Fanconi anemia (FA) is caused by pathogenic variants in the FA/BRCA DNA repair pathway
genes, and is characterized by congenital abnormalities, bone marrow failure and an …

The Fanconi anemia pathway in cancer

J Niraj, A Färkkilä, AD D'Andrea - Annual review of cancer …, 2019 - annualreviews.org
Fanconi anemia (FA) is a complex genetic disorder characterized by bone marrow failure
(BMF), congenital defects, inability to repair DNA interstrand cross-links (ICLs), and cancer …

Canonical and noncanonical roles of fanconi anemia proteins: Implications in cancer predisposition

G Milletti, L Strocchio, D Pagliara, K Girardi, R Carta… - Cancers, 2020 - mdpi.com
Simple Summary Fanconi anemia (FA) is a genetic disorder that is characterized by bone
marrow failure (BMF), developmental abnormalities, and predisposition to cancer. In this …

Fanconi anaemia and cancer: an intricate relationship

G Nalepa, DW Clapp - Nature Reviews Cancer, 2018 - nature.com
Fanconi anaemia (FA) is a genetic disorder that is characterized by bone marrow failure
(BMF), developmental abnormalities and predisposition to cancer. Together with other …

[HTML][HTML] Fanconi anemia pathway defects in inherited and sporadic cancers

H Chen, S Zhang, Z Wu - Translational pediatrics, 2014 - ncbi.nlm.nih.gov
Fanconi anemia (FA) is a recessive chromosomal instability syndrome. It is a hereditary
disorder with defects in DNA repair characterized by progressive bone marrow failure …

Fanconi anemia pathway as a prospective target for cancer intervention

W Liu, A Palovcak, F Li, A Zafar, F Yuan, Y Zhang - Cell & bioscience, 2020 - Springer
Fanconi anemia (FA) is a recessive genetic disorder caused by biallelic mutations in at least
one of 22 FA genes. Beyond its pathological presentation of bone marrow failure and …