Cargando…

A novel germline MLH1 mutation causing Lynch Syndrome in patients from the Republic of Macedonia

AIM: To implement molecular analysis in the clinical diagnosis and management of Lynch syndrome (LS). METHODS: We analyzed the mutations in MLH1 and MSH2 in the selected LS families from the Republic of Macedonia. RESULTS: We performed the very first genetic identification of LS families and charact...

Descripción completa

Detalles Bibliográficos
Autores principales:	Hiljadnikova-Bajro, Marija, Josifovski, Toni, Panovski, Milco, Dimovski, Aleksandar J.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Croatian Medical Schools 2012
Materias:	Short Communication
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3490460/ https://www.ncbi.nlm.nih.gov/pubmed/23100212 http://dx.doi.org/10.3325/cmj.2012.53.496

Ejemplares similares

Distribution of the most Common Genetic Variants Associated with a Variable Drug Response in the Population of the Republic of Macedonia
por: Kapedanovska Nestorovska, A, et al.
Publicado: (2015)

Whole-exome sequencing identified a novel mutation of MLH1 in an extended family with lynch syndrome
por: Ghaedi, Hamid, et al.
Publicado: (2019)

Evaluation of statin utilization in the Republic of Macedonia during 2013–2016
por: Naumovska, Zorica, et al.
Publicado: (2018)

Mitochondrial DNA control region analysis of three ethnic groups in the Republic of Macedonia
por: Jankova-Ajanovska, Renata, et al.
Publicado: (2014)

Mental Health Legislation and Involuntary Hospitalization in the Republic of Macedonia
por: Manuševa, Nensi, et al.
Publicado: (2016)

Lynch syndrome-associated endometrial carcinoma with MLH1 germline mutation and MLH1 promoter hypermethylation: a case report and literature review
por: Yokoyama, Takanori, et al.
Publicado: (2018)

A Chinese family affected by lynch syndrome caused by MLH1 mutation
por: Jia, Shuqin, et al.
Publicado: (2018)

MLH1 germline mutation associated with Lynch syndrome in a family followed for more than 45 years
por: Momma, Tomoyuki, et al.
Publicado: (2019)

Nucleosome positioning is unaltered at MLH1 splice site mutations in cells derived from Lynch syndrome patients
por: Sloane, Mathew A, et al.
Publicado: (2014)

Wellbeing in the Republic of Macedonia
por: Oliveira, Nelio
Publicado: (2017)

Relationship of lower uterine segment cancer with Lynch syndrome: A novel case with an hMLH1 germline mutation
por: MASUDA, KENTA, et al.
Publicado: (2012)

Influence of MSI and 18q LOH markers on capecitabine adjuvant monotherapy in colon cancer patients
por: Matevska-Geshkovska, Nadica, et al.
Publicado: (2018)

Somatic mosaicism by a de novo MLH1 mutation as a cause of Lynch syndrome
por: Geurts‐Giele, Willemina R., et al.
Publicado: (2019)

Structure of the human MLH1 N-terminus: implications for predisposition to Lynch syndrome
por: Wu, Hong, et al.
Publicado: (2015)

Pharmacy practice in the Republic of Macedonia
por: Ivanovska, Verica
Publicado: (2011)

Phenylketonuria screening in the Republic of Macedonia
por: Kocova, Mirjana, et al.
Publicado: (2016)

Characterization of somatic mutations of colorectal tumor in a patient with concurrent APC and MLH1 germline mutations
por: Cheng, Yunsheng, et al.
Publicado: (2023)

Population carrier frequency of hMSH2 and hMLH1 mutations
por: Dunlop, M G, et al.
Publicado: (2000)

Metachronous cutaneous squamous cell carcinoma in a young patient as the only presenting symptom to uncover Lynch syndrome with MLH1 Germline mutation
por: Khaddour, Karam, et al.
Publicado: (2020)

Novel Mutations in MLH1 and MSH2 Genes in Mexican Patients with Lynch Syndrome
por: Moreno-Ortiz, Jose Miguel, et al.
Publicado: (2016)

Lynch Syndrome Associated with Two MLH1 Promoter Variants and Allelic Imbalance of MLH1 Expression
por: Hesson, Luke B, et al.
Publicado: (2015)

Contribution of MLH1 constitutional methylation for Lynch syndrome diagnosis in patients with tumor MLH1 downregulation
por: Pinto, Diana, et al.
Publicado: (2018)

Biallelic germline nonsense variant of MLH3 underlies polyposis predisposition
por: Olkinuora, Alisa, et al.
Publicado: (2018)

Study of the Hepatitis C Virus in the Republic of Macedonia
por: Kiprijanovska, S, et al.
Publicado: (2012)

Tuberculosis in the Prisons in the Republic of Macedonia, 2008-2017
por: Ilievska-Poposka, Biljana, et al.
Publicado: (2018)

The G67E mutation in hMLH1 is associated with an unusual presentation of Lynch syndrome
por: Clyne, M, et al.
Publicado: (2009)

A novel germline mutation in hMLH1 in three Korean women with endometrial cancer in a family of Lynch syndrome: case report and literature review
por: Jung, Youn-Joon, et al.
Publicado: (2021)

Two novel and one known pathogenic germline mutations in MMRs in Chinese families with Lynch syndrome
por: Li, Juyi, et al.
Publicado: (2021)

Germline MLH1, MSH2 and MSH6 variants in Brazilian patients with colorectal cancer and clinical features suggestive of Lynch Syndrome
por: Schneider, Nayê Balzan, et al.
Publicado: (2018)

A rare large duplication of MLH1 identified in Lynch syndrome
por: Kumar, Abhishek, et al.
Publicado: (2021)

Endometrioid endometrial cancer “recurring” as high-grade serous adenocarcinoma in the inguinal lymph nodes in a patient with germline MLH1 mutated Lynch syndrome: consequence or coincidence?
por: Jiang, Wei, et al.
Publicado: (2019)

Isolated MLH1 Loss by Immunohistochemistry Because of Benign Germline MLH1 Polymorphisms
por: Bosch, Dustin E., et al.
Publicado: (2022)

Genetics of Non Syndromic Hearing Loss in the Republic of Macedonia
por: Sukarova Stefanovska, E, et al.
Publicado: (2012)

Frequency of Electrocardiographic Changes in Trained Athletes in the Republic of Macedonia
por: Karagjozova, Ivanka, et al.
Publicado: (2017)

Mental health law in the Former Yugoslav Republic of Macedonia
por: Novotni, Antoni, et al.
Publicado: (2018)

Insertion of an Alu‐like element in MLH1 intron 7 as a novel cause of Lynch syndrome
por: Li, Yirong, et al.
Publicado: (2020)

MLH1 Promoter Methylation Could Be the Second Hit in Lynch Syndrome Carcinogenesis
por: Carnevali, Ileana Wanda, et al.
Publicado: (2023)

Total IgE Distribution in Food Allergy Suspected Patients in Republic of Macedonia (2001-2011)
por: Mitkovska, Slavica Hristomanova, et al.
Publicado: (2015)

A novel MLH1 mutation in a Japanese family with Lynch syndrome associated with small bowel cancer
por: Akizawa, Yoshika, et al.
Publicado: (2018)

High Incidence of Congenital Hypothyroidism in One Region of the Republic of Macedonia
por: Anastasovska, V, et al.
Publicado: (2014)

Cannot write session to /tmp/vufind_sessions/sess_q4sumqln0ha84ea49ddfcomk2m