Cargando…

A rare large duplication of MLH1 identified in Lynch syndrome

BACKGROUND: The most frequently identified strong cancer predisposition mutations for colorectal cancer (CRC) are those in the mismatch repair (MMR) genes in Lynch syndrome. Laboratory diagnostics include testing tumors for immunohistochemical staining (IHC) of the Lynch syndrome-associated DNA MMR...

Descripción completa

Detalles Bibliográficos
Autores principales:	Kumar, Abhishek, Paramasivam, Nagarajan, Bandapalli, Obul Reddy, Schlesner, Matthias, Chen, Tianhui, Sijmons, Rolf, Dymerska, Dagmara, Golebiewska, Katarzyna, Kuswik, Magdalena, Lubinski, Jan, Hemminki, Kari, Försti, Asta
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2021
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7814444/ https://www.ncbi.nlm.nih.gov/pubmed/33468175 http://dx.doi.org/10.1186/s13053-021-00167-0

Ejemplares similares

Cancer Predisposition Genes in Cancer-Free Families
por: Zheng, Guoqiao, et al.
Publicado: (2020)

A Novel Low-Risk Germline Variant in the SH2 Domain of the SRC Gene Affects Multiple Pathways in Familial Colorectal Cancer
por: Skopelitou, Diamanto, et al.
Publicado: (2021)

Whole exome sequencing identifies novel germline variants of SLC15A4 gene as potentially cancer predisposing in familial colorectal cancer
por: Skopelitou, Diamanto, et al.
Publicado: (2022)

Whole Exome Sequencing Identifies APCDD1 and HDAC5 Genes as Potentially Cancer Predisposing in Familial Colorectal Cancer
por: Skopelitou, Diamanto, et al.
Publicado: (2021)

Whole-Exome Sequencing Identifies a Novel Germline Variant in PTK7 Gene in Familial Colorectal Cancer
por: Miao, Beiping, et al.
Publicado: (2022)

Germline Variants of CYBA and TRPM4 Predispose to Familial Colorectal Cancer
por: Zhu, Lizhen, et al.
Publicado: (2022)

Identification of Familial Hodgkin Lymphoma Predisposing Genes Using Whole Genome Sequencing
por: Srivastava, Aayushi, et al.
Publicado: (2020)

Pedigree based DNA sequencing pipeline for germline genomes of cancer families
por: Försti, Asta, et al.
Publicado: (2016)

Familial Cancer Variant Prioritization Pipeline version 2 (FCVPPv2) applied to a papillary thyroid cancer family
por: Kumar, Abhishek, et al.
Publicado: (2018)

A Germline Mutation in the POT1 Gene Is a Candidate for Familial Non-Medullary Thyroid Cancer
por: Srivastava, Aayushi, et al.
Publicado: (2020)

Characterization of rare germline variants in familial multiple myeloma
por: Catalano, Calogerina, et al.
Publicado: (2021)

Whole Genome Sequencing Prioritizes CHEK2, EWSR1, and TIAM1 as Possible Predisposition Genes for Familial Non-Medullary Thyroid Cancer
por: Srivastava, Aayushi, et al.
Publicado: (2021)

Whole Genome Sequencing of Familial Non-Medullary Thyroid Cancer Identifies Germline Alterations in MAPK/ERK and PI3K/AKT Signaling Pathways
por: Srivastava, Aayushi, et al.
Publicado: (2019)

Investigation of Rare Non-Coding Variants in Familial Multiple Myeloma
por: Niazi, Yasmeen, et al.
Publicado: (2022)

Lynch syndrome mutations in Poland and the Baltic States
por: Dymerska, Dagmara, et al.
Publicado: (2015)

Chemotherapy-induced peripheral neuropathy: evidence from genome-wide association studies and replication within multiple myeloma patients
por: Mahmoudpour, Seyed Hamidreza, et al.
Publicado: (2018)

Incidence, mortality and survival in malignant pleural mesothelioma before and after asbestos in Denmark, Finland, Norway and Sweden
por: Hemminki, Kari, et al.
Publicado: (2021)

Informing patients about their mutation tests: CDKN2A c.256G>A in melanoma as an example
por: Hemminki, Kari, et al.
Publicado: (2020)

Combinations of Low-Frequency Genetic Variants Might Predispose to Familial Pancreatic Cancer
por: Slater, Emily P., et al.
Publicado: (2021)

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)

Second Primary Cancers After Gastric Cancer, and Gastric Cancer as Second Primary Cancer
por: Zheng, Guoqiao, et al.
Publicado: (2021)

Second Primary Cancers After Kidney Cancers, and Kidney Cancers as Second Primary Cancers
por: Zheng, Guoqiao, et al.
Publicado: (2021)

Incidence, Mortality and Survival Trends in Breast Cancers Coincident with Introduction of Mammography in the Nordic Countries
por: Hemminki, Kari, et al.
Publicado: (2022)

Survival in colon and rectal cancers in Finland and Sweden through 50 years
por: Hemminki, Kari, et al.
Publicado: (2021)

Familial Clustering, Second Primary Cancers and Causes of Death in Penile, Vulvar and Vaginal Cancers
por: Zhang, Luyao, et al.
Publicado: (2019)

Second Primary Cancers After Liver, Gallbladder and Bile Duct Cancers, and These Cancers as Second Primary Cancers
por: Zheng, Guoqiao, et al.
Publicado: (2021)

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

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

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

Cervical, vaginal and vulvar cancer incidence and survival trends in Denmark, Finland, Norway and Sweden with implications to treatment
por: Hemminki, Kari, et al.
Publicado: (2022)

Incidence and survival in laryngeal and lung cancers in Finland and Sweden through a half century
por: Koskinen, Anni, et al.
Publicado: (2022)

Survival trends in hematological malignancies in the Nordic countries through 50 years
por: Hemminki, Kari, et al.
Publicado: (2022)

Survival in hematological malignancies in the Nordic countries through a half century with correlation to treatment
por: Hemminki, Kari, et al.
Publicado: (2023)

Conditional survival in breast cancer up to 10 years in the Nordic countries
por: Zitricky, Frantisek, et al.
Publicado: (2023)

Systematic enrichment analysis of gene expression profiling studies identifies consensus pathways implicated in colorectal cancer development
por: Lascorz, Jesús, et al.
Publicado: (2011)

Incidence, mortality and survival in multiple myeloma compared to other hematopoietic neoplasms in Sweden up to year 2016
por: Hemminki, Kari, et al.
Publicado: (2021)

Progress in survival in renal cell carcinoma through 50 years evaluated in Finland and Sweden
por: Hemminki, Kari, et al.
Publicado: (2021)

Incidence trends in bladder and lung cancers between Denmark, Finland and Sweden may implicate oral tobacco (snuff/snus) as a possible risk factor
por: Hemminki, Kari, et al.
Publicado: (2021)

Survival in bladder and upper urinary tract cancers in Finland and Sweden through 50 years
por: Hemminki, Kari, et al.
Publicado: (2022)

Cannot write session to /tmp/vufind_sessions/sess_jbqhqhkcs8dfj1r9cc6ekfnvf2