Lynch syndrome or hereditary non polyposis colorectal cancer (HNPCC) in a moroccan family: Case report.

Lynch syndrome MisMatch repair genes Oncogenetic consultation

Journal

Annals of medicine and surgery (2012)
ISSN: 2049-0801
Titre abrégé: Ann Med Surg (Lond)
Pays: England
ID NLM: 101616869

Informations de publication

Date de publication:
Feb 2021
Historique:
received: 23 12 2020
revised: 05 01 2021
accepted: 08 01 2021
entrez: 1 2 2021
pubmed: 2 2 2021
medline: 2 2 2021
Statut: epublish

Résumé

Colorectal cancer is a major global health problem. In 5% of cases, a genetic predisposition to cancer's syndrome is the etiology, such as Lynch syndrome. The population prevalence of Lynch syndrome has been estimated at 1/440. The objectives of this study are to show the interest of the oncogenetic consultation in the management of patients with suspicion of Lynch syndrome. It is a 70-year-old patient with a family history of different neoplasms. The patient has also been followed for an adenocarcinoma of the colon. An oncogenetic consultation was indicated, which led to the diagnosis of Lynch syndrome, according to the Amsterdam II criteria. A study of the MisMatch Repair genes was requested, to allow a pre-symptomatic diagnosis of apparented subjects at risk, and thus to also allow monitoring and early diagnosis of neoplasms or prophylactic measures. Lynch syndrome is one of the most common cancer susceptibility syndromes. A constitutional deleterious mutation in one of the DNA MisMatch Repair genes, is responsible for nearly 70% of cases of this syndrome. The oncogenetic consultation and the identification of the genetics cause, makes it possible to set up specific monitoring and to offer a pre-symptomatic test to all major relatives of the index case. This medical observation shows the benefit of the oncogenetic consultation, if a genetic predisposition to cancer's syndrome is suspected. The diagnostic of this predisposition and monitoring of the propositus and his exposed, like in Lynch syndrome will help in the early management of cancers, specially colorectal cancer and endometrial adenocarcinoma.

Identifiants

pubmed: 33520207
doi: 10.1016/j.amsu.2021.01.017
pii: S2049-0801(21)00011-X
pmc: PMC7819804
doi:

Types de publication

Case Reports

Langues

eng

Pagination

123-126

Informations de copyright

© 2021 Published by Elsevier Ltd on behalf of IJS Publishing Group Ltd.

Déclaration de conflit d'intérêts

The authors declare having no conflicts of interest.

Références

Am J Hum Genet. 2016 Aug 4;99(2):337-51
pubmed: 27476653
Ann Pathol. 2007 Dec;27(6):433-8
pubmed: 18554553
JAMA. 2006 Sep 27;296(12):1479-87
pubmed: 17003396
Bull Cancer. 2008 Jan;95(1):121-32
pubmed: 18230578
Clin Genet. 2017 Apr;91(4):507-519
pubmed: 27779754
Sao Paulo Med J. 2009 Jan;127(1):46-51
pubmed: 19466295
Gastroenterol Clin Biol. 2007 Feb;31(2):136-40
pubmed: 17347619
Gastroenterol Clin Biol. 2005 Oct;29(10):1028-34
pubmed: 16435511
Cancer Res. 2002 Feb 15;62(4):1014-9
pubmed: 11861375
Int J Surg. 2020 Dec;84:226-230
pubmed: 33181358
Clin Genet. 2009 Jul;76(1):1-18
pubmed: 19659756

Auteurs

F Z Outtaleb (FZ)

Laboratory of Medical Genetics, Ibn Rochd University Hospital of Casablanca, Morocco.

A Alami (A)

Mohamed VI Oncology Center, Ibn Rochd University Hospital of Casablanca, Morocco.

N Serbati (N)

Laboratory of Medical Genetics, Ibn Rochd University Hospital of Casablanca, Morocco.

N Benchakroun (N)

Mohamed VI Oncology Center, Ibn Rochd University Hospital of Casablanca, Morocco.

Z Bouchbika (Z)

Mohamed VI Oncology Center, Ibn Rochd University Hospital of Casablanca, Morocco.

H Jouhadi (H)

Mohamed VI Oncology Center, Ibn Rochd University Hospital of Casablanca, Morocco.

N Tawfiq (N)

Mohamed VI Oncology Center, Ibn Rochd University Hospital of Casablanca, Morocco.

S Sahraoui (S)

Mohamed VI Oncology Center, Ibn Rochd University Hospital of Casablanca, Morocco.

A Benider (A)

Mohamed VI Oncology Center, Ibn Rochd University Hospital of Casablanca, Morocco.

H Dehbi (H)

Laboratory of Medical Genetics, Ibn Rochd University Hospital of Casablanca, Morocco.
Cellular and Molecular Pathology Laboratory, Casablanca Faculty of Medicine and Pharmacy, Hassan II University, Morocco.

Classifications MeSH