Evidence for classification of c.1852_1853AAGC in MLH1 as a neutral variant for Lynch syndrome
Evidence for classification of c.1852_1853AAGC in MLH1 as a neutral variant for Lynch syndrome
About this item
Full title
Author / Creator
Castillejo, Adela , Guarinos, Carla , Martinez-Canto, Ana , Barbera, Victor-Manuel , Egoavil, Cecilia , Castillejo, Maria-Isabel , Perez-Carbonell, Lucia , Sanchez-Heras, Ana-Beatriz , Segura, Angel , Ochoa, Enrique , Lazaro, Rafael , Ruiz-Ponte, Clara , Bujanda, Luis , Andreu, Montserrat , Castells, Antoni , Carracedo, Angel , Llor, Xavier , Clofent, Juan , Alenda, Cristina , Paya, Artemio , Jover, Rodrigo and Soto, Jose-Luis
Publisher
BioMed Central Ltd
Journal title
Language
English
Formats
Publication information
Publisher
BioMed Central Ltd
Subjects
More information
Scope and Contents
Contents
Lynch syndrome (LS) is an autosomal dominant inherited cancer syndrome characterized by early onset cancers of the colorectum, endometrium and other tumours. A significant proportion of DNA variants in LS patients are unclassified. Reports on the pathogenicity of the c.1852_1853AA>GC (p.Lys618Ala) variant of the MLH1 gene are conflicting. In this s...
Alternative Titles
Full title
Evidence for classification of c.1852_1853AAGC in MLH1 as a neutral variant for Lynch syndrome
Authors, Artists and Contributors
Author / Creator
Guarinos, Carla
Martinez-Canto, Ana
Barbera, Victor-Manuel
Egoavil, Cecilia
Castillejo, Maria-Isabel
Perez-Carbonell, Lucia
Sanchez-Heras, Ana-Beatriz
Segura, Angel
Ochoa, Enrique
Lazaro, Rafael
Ruiz-Ponte, Clara
Bujanda, Luis
Andreu, Montserrat
Castells, Antoni
Carracedo, Angel
Llor, Xavier
Clofent, Juan
Alenda, Cristina
Paya, Artemio
Jover, Rodrigo
Soto, Jose-Luis
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_gale_infotracmisc_A248535012
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_gale_infotracmisc_A248535012
Other Identifiers
ISSN
1471-2350
E-ISSN
1471-2350
DOI
10.1186/1471-2350-12-12
