A rare pseudomyxoma peritonei with a MSH2 variation of unknown significance and two mutation carrier family members
Journal of Genetic Medicine
;
: 55-58, 2016.
Artigo
em Inglês
| WPRIM
| ID: wpr-164779
ABSTRACT
Pseudomyxoma peritonei (PMP) is a rare tumor that usually originates in the appendix, but a small number of cases originate in the ovary. Lynch syndrome (LS) is an autosomal dominant hereditary condition that increases the risk of cancer, particularly in the colon and endometrium. Mutations in the mismatch repair genes (MSH2, MLH1, MSH6, and PMS2) increase the risk of LS. Reported PMP cases with hereditary gene mutations of unknown significance are also rare. Here, we investigated a PMP patient and her family members, who have an MSH2 variant of unknown significance. Physicians have an important role in counseling, management, and surveillance based on genetics and pathogenicity.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Ovário
/
Apêndice
/
Virulência
/
Pseudomixoma Peritoneal
/
Neoplasias Colorretais Hereditárias sem Polipose
/
Colo
/
Mutação em Linhagem Germinativa
/
Aconselhamento
/
Endométrio
/
Reparo de Erro de Pareamento de DNA
Limite:
Feminino
/
Humanos
Idioma:
Inglês
Revista:
Journal of Genetic Medicine
Ano de publicação:
2016
Tipo de documento:
Artigo
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