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 …

Homologous recombination and human health: the roles of BRCA1, BRCA2, and associated proteins

R Prakash, Y Zhang, W Feng… - Cold Spring Harbor …, 2015 - cshperspectives.cshlp.org
Homologous recombination (HR) is a major pathway for the repair of DNA double-strand
breaks in mammalian cells, the defining step of which is homologous strand exchange …

Replication gaps are a key determinant of PARP inhibitor synthetic lethality with BRCA deficiency

K Cong, M Peng, AN Kousholt, WTC Lee, S Lee… - Molecular cell, 2021 - cell.com
Mutations in BRCA1 or BRCA2 (BRCA) is synthetic lethal with poly (ADP-ribose)
polymerase inhibitors (PARPi). Lethality is thought to derive from DNA double-stranded …

Carboplatin in BRCA1/2-mutated and triple-negative breast cancer BRCAness subgroups: the TNT Trial

A Tutt, H Tovey, MCU Cheang, S Kernaghan… - Nature medicine, 2018 - nature.com
Germline mutations in BRCA1/2 predispose individuals to breast cancer (termed germline-
mutated BRCA1/2 breast cancer, gBRCA-BC) by impairing homologous recombination (HR) …

Fanconi anemia: current insights regarding epidemiology, cancer, and DNA repair

JD Peake, E Noguchi - Human genetics, 2022 - Springer
Fanconi anemia is a genetic disorder that is characterized by bone marrow failure, as well
as a predisposition to malignancies including leukemia and squamous cell carcinoma …

Fanconi anaemia and the repair of Watson and Crick DNA crosslinks

MC Kottemann, A Smogorzewska - Nature, 2013 - nature.com
The function of Fanconi anaemia proteins is to maintain genomic stability. Their main role is
in the repair of DNA interstrand crosslinks, which, by covalently binding the Watson and the …

Mitotic homologous recombination maintains genomic stability and suppresses tumorigenesis

ME Moynahan, M Jasin - Nature reviews Molecular cell biology, 2010 - nature.com
Mitotic homologous recombination promotes genome stability through the precise repair of
DNA double-strand breaks and other lesions that are encountered during normal cellular …

The therapeutic significance of mutational signatures from DNA repair deficiency in cancer

J Ma, J Setton, NY Lee, N Riaz, SN Powell - Nature communications, 2018 - nature.com
Cancer is fundamentally a disease of the genome and inherited deficiencies in DNA repair
pathways are well established to increase lifetime cancer risk. Computational analysis of …

PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene

N Rahman, S Seal, D Thompson, P Kelly, A Renwick… - Nature …, 2007 - nature.com
PALB2 interacts with BRCA2, and biallelic mutations in PALB2 (also known as FANCN),
similar to biallelic BRCA2 mutations, cause Fanconi anemia. We identified monoallelic …

DNA helicases involved in DNA repair and their roles in cancer

RM Brosh Jr - Nature Reviews Cancer, 2013 - nature.com
Helicases have major roles in genome maintenance by unwinding structured nucleic acids.
Their prominence is marked by various cancers and genetic disorders that are linked to …