Failure to repair DNA damage or defective sister chromatid cohesion, a process essential for correct chromosome segregation, can be causative of @entity1344 ( @entity1344 ), which is a hallmark of many types of @entity5 . We investigated how frequent this occurs in @entity213 ( @entity213 ) and whether specific mechanisms or genes could be linked to these phenotypes. The genomic instability syndrome @entity11807 is caused by mutations in any of at least 16 genes regulating DNA interstrand crosslink (ICL) repair. Since @entity1 with @entity11807 have a high risk to develop @entity213 , we investigated whether and to which extent @entity11807 pathway inactivation underlies @entity1344 in @entity213 of @entity11807 individuals. We observed ICL-induced chromosomal breakage in 9 of 17 (53%) @entity213 cell lines derived from @entity1 without @entity11807 . In addition, defective sister chromatid cohesion was observed in five @entity213 cell lines. Inactivation of @entity30425 was responsible for chromosomal breakage in one cell line, whereas in two other cell lines, somatic mutations in @entity70456 or @entity5283 resulted in inadequate sister chromatid cohesion. In addition, @entity47937 methylation was found in one cell line by screening an additional panel of 39 @entity213 cell lines. Our data demonstrate that @entity1344 in terms of ICL-induced chromosomal breakage and defective chromatid cohesion is frequently observed in @entity213 . Inactivation of known @entity11807 and chromatid cohesion genes does explain @entity1344 in the minority of cases. These findings point to phenotypes that may be highly relevant in treatment response of @entity213 .

Defects in the XXXX Pathway and Chromatid Cohesion in Head and Neck Cancer.

@entity1 :: ('9606', 'Species') :: ['patients'] @entity5283 :: ('10735', 'Gene') :: ['STAG2'] @entity5 :: ('MESH:D009369', 'Disease') :: ['cancers'] @entity213 :: ('MESH:C535575', 'Disease') :: ['head and neck squamous cell carcinoma', 'HNSCC'] @entity30425 :: ('57697', 'Gene') :: ['FANCM'] @entity1344 :: ('MESH:D043171', 'Disease') :: ['chromosomal instability', 'CIN'] @entity47937 :: ('2188', 'Gene') :: ['FANCF'] @entity11807 :: ('MESH:D005199', 'Disease') :: ['Fanconi anemia', 'non-Fanconi anemia'] @entity70456 :: ('23244', 'Gene') :: ['PDS5A']
@entity11807 :: (MESH:D005199,Disease) :: ['Fanconi Anemia']
