Colonic cancer in a 34-yr-old woman: should it prompt microsatellite instability studies and mismatch repair gene testing?
It remains debatable whether young patients with colorectal tumors should undergo genetic testing with the aim of identifying new hereditary nonpolyposis colorectal cancer families. We describe a case of a young woman with colon cancer with no clinical criteria of hereditary nonpolyposis colorectal cancer, whose genetic analysis showed that the tumor displayed microsatellite instability, and in whom a truncated protein in hMSH2 gene was found, which was also present in two at-risk relatives.
Claro
I
I
Centro de Investigação em Patobiologia Molecular, and Departamento de Patologia Morfológica, Instituto Português de Oncologia Francisco Gentil, Lisboa, Portugal.
Cravo
M
M
Glória
L
L
Gaspar
C
C
Albuquerque
C
C
Lage
P
P
Fidalgo
P
P
Ramalho
E
E
Chaves
P
P
Cardoso
P
P
Nobre Leitão
C
C
D000328:Adult; D003110:Colonic Neoplasms / Q000235:genetics*; D003123:Colorectal Neoplasms, Hereditary Nonpolyposis / Q000235:genetics*; D004260:DNA Repair / Q000235:genetics*; D004268:DNA-Binding Proteins; D005260:Female; D006801:Humans; D018895:Microsatellite Repeats; D051718:MutS Homolog 2 Protein; D009154:Mutation; D010375:Pedigree; D011518:Proto-Oncogene Proteins / Q000235:genetics; D012307:Risk Factors
D004268:DNA-Binding Proteins; D011518:Proto-Oncogene Proteins; C497172:MSH2 protein, human; D051718:MutS Homolog 2 Protein