The Fanconi anaemia pathway: new players and new functions
R Ceccaldi, P Sarangi, AD D'Andrea - Nature reviews Molecular cell …, 2016 - nature.com
The Fanconi anaemia pathway repairs DNA interstrand crosslinks (ICLs) in the genome. Our
understanding of this complex pathway is still evolving, as new components continue to be …
understanding of this complex pathway is still evolving, as new components continue to be …
[HTML][HTML] Update on genetic predisposition to colorectal cancer and polyposis
The present article summarizes recent developments in the characterization of genetic
predisposition to colorectal cancer (CRC). The main themes covered include new hereditary …
predisposition to colorectal cancer (CRC). The main themes covered include new hereditary …
[HTML][HTML] Exome sequencing identifies biallelic MSH3 germline mutations as a recessive subtype of colorectal adenomatous polyposis
R Adam, I Spier, B Zhao, M Kloth, J Marquez… - The American Journal of …, 2016 - cell.com
In∼ 30% of families affected by colorectal adenomatous polyposis, no germline mutations
have been identified in the previously implicated genes APC, MUTYH, POLE, POLD1, and …
have been identified in the previously implicated genes APC, MUTYH, POLE, POLD1, and …
[HTML][HTML] Update on Lynch syndrome genomics
P Peltomäki - Familial cancer, 2016 - Springer
Four main DNA mismatch repair (MMR) genes have been identified, MLH1, MSH2, MSH6,
and PMS2, which when mutated cause susceptibility to Lynch syndrome (LS). LS is one of …
and PMS2, which when mutated cause susceptibility to Lynch syndrome (LS). LS is one of …
Fanconi anemia: a model disease for studies on human genetics and advanced therapeutics
M Bogliolo, J Surralles - Current opinion in genetics & development, 2015 - Elsevier
Fanconi anemia (FA) is characterized by bone marrow failure, malformations, and
chromosome fragility. We review the recent discovery of FA genes and efforts to develop …
chromosome fragility. We review the recent discovery of FA genes and efforts to develop …
Targeting DNA repair, DNA metabolism and replication stress as anti‐cancer strategies
Anti‐cancer therapies targeting and damaging the DNA have been extensively used in the
last 50 years since the discovery of nitrogen mustards, antimetabolites and platin agents …
last 50 years since the discovery of nitrogen mustards, antimetabolites and platin agents …
The current value of determining the mismatch repair status of colorectal cancer: a rationale for routine testing
E Ryan, K Sheahan, B Creavin, HM Mohan… - Critical reviews in …, 2017 - Elsevier
Colorectal Cancer (CRC) is the third most prevalent cancer in men and women. Up to 15%
of CRCs display microsatellite instability (MSI). MSI is reflective of a deficient mismatch …
of CRCs display microsatellite instability (MSI). MSI is reflective of a deficient mismatch …
Ubiquitinated Fancd2 recruits Fan1 to stalled replication forks to prevent genome instability
Mono-ubiquitination of Fancd2 is essential for repairing DNA interstrand cross-links (ICLs),
but the underlying mechanisms are unclear. The Fan1 nuclease, also required for ICL …
but the underlying mechanisms are unclear. The Fan1 nuclease, also required for ICL …
Whole‐exome sequencing of non‐BRCA1/BRCA2 mutation carrier cases at high‐risk for hereditary breast/ovarian cancer
PS Felicio, RS Grasel, N Campacci… - Human …, 2021 - Wiley Online Library
The current study aimed to identify new breast and/or ovarian cancer predisposition genes.
For that, whole‐exome sequencing (WES) was performed in the germline DNA of 52 non …
For that, whole‐exome sequencing (WES) was performed in the germline DNA of 52 non …
Validation of recently proposed colorectal cancer susceptibility gene variants in an analysis of families and patients—a systematic review
High-throughput sequencing analysis has accelerated searches for genes associated with
risk for colorectal cancer (CRC); germline mutations in NTHL1, RPS20, FANCM, FAN1 …
risk for colorectal cancer (CRC); germline mutations in NTHL1, RPS20, FANCM, FAN1 …