Hereditary colorectal cancer syndromes: familial adenomatous polyposis and lynch syndrome
W Al-Sukhni, M Aronson, S Gallinger - Surgical Clinics of North America, 2008 - Elsevier
Familial colorectal cancer (CRC) accounts for 10% to 20% of all cases of CRC. Two major
autosomal dominant forms of heritable CRC are familial adenomatous polyposis (FAP) and …
autosomal dominant forms of heritable CRC are familial adenomatous polyposis (FAP) and …
[HTML][HTML] Tumor microsatellite instability and clinical outcome in young patients with colorectal cancer
R Gryfe, H Kim, ETK Hsieh, MD Aronson… - … England Journal of …, 2000 - Mass Medical Soc
Background Colorectal cancer can arise through two distinct mutational pathways:
microsatellite instability or chromosomal instability. We tested the hypothesis that colorectal …
microsatellite instability or chromosomal instability. We tested the hypothesis that colorectal …
[HTML][HTML] Phenotypic and genotypic characterisation of biallelic mismatch repair deficiency (BMMR-D) syndrome
CA Durno, PM Sherman, M Aronson, D Malkin… - European journal of …, 2015 - Elsevier
Lynch syndrome, the most common inherited colorectal cancer syndrome in adults, is an
autosomal dominant condition caused by heterozygous germ-line mutations in DNA …
autosomal dominant condition caused by heterozygous germ-line mutations in DNA …
Immune checkpoint inhibition for hypermutant glioblastoma multiforme resulting from germline biallelic mismatch repair deficiency
E Bouffet, V Larouche, BB Campbell… - Journal of clinical …, 2016 - ascopubs.org
Purpose Recurrent glioblastoma multiforme (GBM) is incurable with current therapies.
Biallelic mismatch repair deficiency (bMMRD) is a highly penetrant childhood cancer …
Biallelic mismatch repair deficiency (bMMRD) is a highly penetrant childhood cancer …
[PDF][PDF] Comprehensive analysis of hypermutation in human cancer
We present an extensive assessment of mutation burden through sequencing analysis of>
81,000 tumors from pediatric and adult patients, including tumors with hypermutation caused …
81,000 tumors from pediatric and adult patients, including tumors with hypermutation caused …
Lower cancer incidence in Amsterdam-I criteria families without mismatch repair deficiency: familial colorectal cancer type X
NM Lindor, K Rabe, GM Petersen, R Haile, G Casey… - Jama, 2005 - jamanetwork.com
ContextApproximately 60% of families that meet the Amsterdam-I criteria (AC-I) for
hereditary nonpolyposis colorectal cancer (HNPCC) have a hereditary abnormality in a DNA …
hereditary nonpolyposis colorectal cancer (HNPCC) have a hereditary abnormality in a DNA …
Risks of Lynch Syndrome Cancers for MSH6 Mutation Carriers
L Baglietto, NM Lindor, JG Dowty… - Journal of the …, 2010 - academic.oup.com
Background Germline mutations in MSH6 account for 10%–20% of Lynch syndrome
colorectal cancers caused by hereditary DNA mismatch repair gene mutations. Because …
colorectal cancers caused by hereditary DNA mismatch repair gene mutations. Because …
[HTML][HTML] PMS2 monoallelic mutation carriers: the known unknown
MKL Goodenberger, BC Thomas… - Genetics in …, 2016 - nature.com
Germ-line mutations in MLH1, MSH2, MSH6, and PMS2 have been shown to cause Lynch
syndrome. The penetrance of the cancer and tumor spectrum has been repeatedly studied …
syndrome. The penetrance of the cancer and tumor spectrum has been repeatedly studied …
Combined hereditary and somatic mutations of replication error repair genes result in rapid onset of ultra-hypermutated cancers
A Shlien, BB Campbell, R De Borja, LB Alexandrov… - Nature …, 2015 - nature.com
DNA replication− associated mutations are repaired by two components: polymerase
proofreading and mismatch repair. The mutation consequences of disruption to both repair …
proofreading and mismatch repair. The mutation consequences of disruption to both repair …
Association between biallelic and monoallelic germline MYH gene mutations and colorectal cancer risk
ME Croitoru, SP Cleary, N Di Nicola… - Journal of the …, 2004 - academic.oup.com
The MutY human homologue (MYH) gene encodes a member of the base excision repair
pathway that is involved in repairing oxidative damage to DNA. Two germline MYH gene …
pathway that is involved in repairing oxidative damage to DNA. Two germline MYH gene …