[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 …

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 …

Targeted disruption of FANCC and FANCG in human cancer provides a preclinical model for specific therapeutic options

E Gallmeier, ES Calhoun, C Rago, JR Brody… - Gastroenterology, 2006 - Elsevier
Background & Aims: How specifically to treat pancreatic and other cancers harboring
Fanconi anemia gene mutations has raised great interest recently, yet preclinical studies …

The Fanconi anemia pathway promotes replication-dependent DNA interstrand cross-link repair

P Knipscheer, M Räschle, A Smogorzewska, M Enoiu… - Science, 2009 - science.org
Fanconi anemia is a human cancer predisposition syndrome caused by mutations in 13
Fanc genes. The disorder is characterized by genomic instability and cellular …

The Genetics of FANCC and FANCG in Familial Pancreatic Cancer

CD Rogers, MS Heijden, K Brune, CJ Yeo… - Cancer biology & …, 2004 - Taylor & Francis
Patients with Fanconi anemia (FA) display a wide variety of defects including bone marrow
failure and a high risk of developing cancer. Multiple Fanconi genes exist whose proteins …

[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 …

[PDF][PDF] DNA repair pathways in clinical practice: lessons from pediatric cancer susceptibility syndromes

RD Kennedy, AD D'Andrea - Journal of Clinical Oncology, 2006 - researchgate.net
Human cancers exhibit genomic instability and an increased mutation rate due to underlying
defects in DNA repair. Cancer cells are often defective in one of six major DNA repair …

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 …

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 …

[HTML][HTML] A functionally impaired missense variant identified in French Canadian families implicates FANCI as a candidate ovarian cancer-predisposing gene

CT Fierheller, L Guitton-Sert, WM Alenezi, T Revil… - Genome medicine, 2021 - Springer
Familial ovarian cancer (OC) cases not harbouring pathogenic variants in either of the
BRCA1 and BRCA2 OC-predisposing genes, which function in homologous recombination …