Prevalence of germline mutations in the spindle assembly checkpoint gene BUB1B in individuals with early-onset colorectal cancer

2016 ◽  
Vol 55 (11) ◽  
pp. 855-863 ◽  
Author(s):  
Marc-Manuel Hahn ◽  
Lilian Vreede ◽  
Sonja A. S. A Bemelmans ◽  
Erica van der Looij ◽  
Ad Geurts van Kessel ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Early Onset ◽  
Spindle Assembly Checkpoint ◽  
Spindle Assembly ◽  
Germline Mutations ◽  
Checkpoint Gene ◽  
Early Onset Colorectal Cancer

scholarly journals Germline mutations in the spindle assembly checkpoint genes BUB1 and BUB3 are infrequent in familial colorectal cancer and polyposis

2018 ◽  
Vol 17 (1) ◽  
Author(s):  
Pilar Mur ◽  
Richarda M. De Voer ◽  
Rubén Olivera-Salguero ◽  
Sandra Rodríguez-Perales ◽  
Tirso Pons ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Spindle Assembly Checkpoint ◽  
Spindle Assembly ◽  
Germline Mutations ◽  
Familial Colorectal Cancer ◽  
Checkpoint Genes

A de novo deletional germline mutation in the MLH1 gene resulting in early onset colorectal cancer in a woman with a negative family history: A case report

2007 ◽  
Vol 25 (18_suppl) ◽  
pp. 21067-21067
Author(s):  
D. Zakalik ◽  
N. S. Goldstein ◽  
W. L. Ducaine
Keyword(s):  
Colorectal Cancer ◽  
Family History ◽  
Early Onset ◽  
De Novo ◽  
Germline Mutations ◽  
De Novo Mutations ◽  
Mlh1 Gene ◽  
Negative Family History ◽  
Mmr Genes ◽  
Early Onset Colorectal Cancer

21067 Background: Hereditary non-polyposis colorectal cancer (HNPCC) is a genetic disorder that results in an increased risk of early onset colorectal cancer (CRC). HNPCC is caused by germline mutations in DNA mismatch repair (MMR) genes, including MLH1 and MSH2, and is transmitted in an autosomal dominant manner. De novo germline mutations in MMR genes are exceedingly rare. We now describe a case of a de novo germline mutation in MLH1 associated with early onset CRC in a young woman with a negative family history. Methods: We present a case of a 31-year-old Caucasian female who presented with abdominal pain. Colonoscopy revealed a moderately differentiated adenocarcinoma with focal mucin production involving the sigmoid colon, with a final staging of T4N0M0. Genetic testing was offered because of her young age at diagnosis, having fulfilled the Bethesda guidelines. Microsatellite instability (MSI) testing using a panel of six microsatellite loci was performed on the tumor sample from the affected patient. Immunohistochemistry (IHC) testing for MLH1 and MSH2 was performed. Following counseling and with informed consent, DNA was isolated and sequenced using bi-directional PCR of the MLH1 gene. All exons of MLH1 and MSH2 were analyzed by standard Southern blot methods. Paternity was established using eight genetic loci. Results: The patient's tumor revealed high MSI and complete absence of MLH1 immunoreactivity. MSH2 IHC staining was normal. A large deletional mutation involving exons 5–12 of MLH1 was identified by Southern blot analysis. The patient's parents and siblings were tested and found to have wild type MLH1. Paternity was confirmed with greater than 99.9% certainty. Conclusions: De novo mutations in MMR genes are a rare cause of HNPCC. We report the first case of a large de novo deletion in the MLH1 gene accounting for early onset CRC. Such de novo mutations, albeit rare, must be considered in patients who present with early onset CRC and a negative family history. These results support the use of the Bethesda guidelines to identify individuals who may carry mutations in the MMR genes. No significant financial relationships to disclose.

Germline Mutations in the Spindle Assembly Checkpoint Genes BUB1 and BUB3 Are Risk Factors for Colorectal Cancer

2013 ◽  
Vol 145 (3) ◽  
pp. 544-547 ◽  
Author(s):  
Richarda M. de Voer ◽  
Ad Geurts van Kessel ◽  
Robbert D.A. Weren ◽  
Marjolijn J.L. Ligtenberg ◽  
Dominique Smeets ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Risk Factors ◽  
Spindle Assembly Checkpoint ◽  
Spindle Assembly ◽  
Germline Mutations ◽  
Checkpoint Genes

scholarly journals 1031 High Frequency of MSH6 Germline Mutations in Early-Onset Colorectal Cancer

2010 ◽  
Vol 138 (5) ◽  
pp. S-150
Author(s):  
Maria Dolores Giraldez ◽  
Francesc Balaguer ◽  
Miriam Cuatrecasas ◽  
Jenifer Munoz ◽  
Virginia Alonso-Espinaco ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
High Frequency ◽  
Early Onset ◽  
Germline Mutations ◽  
Early Onset Colorectal Cancer

S1982 Biallelic Pms2 Germline Mutations in a Family With a Microsatellite-Stable Brain Tumor and Early Onset Colorectal Cancer

2010 ◽  
Vol 138 (5) ◽  
pp. S-294
Author(s):  
Celine H. Leenen ◽  
Ina R. Geurts-Giele ◽  
W. Dinjens ◽  
Erik Jan Dubbink ◽  
Ernst J. Kuipers ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Brain Tumor ◽  
Early Onset ◽  
Germline Mutations ◽  
Early Onset Colorectal Cancer
Sign in / Sign up

Export Citation Format

Share Document