scholarly journals IDH1 mutated low grade astrocytoma occurring in MSH2 mutated Lynch syndrome family

2016 ◽  
Vol 6 ◽  
pp. 45-47
Author(s):  
Alaa Alkhotani ◽  
Ingrid Ambus ◽  
Lea Velsher ◽  
Corwyn Rowsell ◽  
Julia Keith
Keyword(s):  
Lynch Syndrome ◽  
Low Grade ◽  
Lynch Syndrome Family

scholarly journals A NovelMLH1Initiation Codon Mutation (c.3G>T) in a Large Chinese Lynch Syndrome Family with Different Onset Age and mRNA Expression Level

2018 ◽  
Vol 2018 ◽  
pp. 1-8 ◽  
Author(s):  
Yanni Zhang ◽  
Huishuang Chen ◽  
Zhiyu Peng ◽  
Santasree Banerjee ◽  
Wei Li ◽  
...  
Keyword(s):  
Lynch Syndrome ◽  
Mrna Expression ◽  
Germline Mutation ◽  
Peripheral Blood ◽  
Expression Level ◽  
Onset Age ◽  
Mrna Expression Level ◽  
Increased Risk ◽  
Lynch Syndrome Family ◽  
Codon Mutation

Lynch syndrome is a genetically and clinically heterogeneous disorder; it is caused by a germline mutation in DNA mismatch repair (MMR) genes. Individuals with a heterozygous mutation in MLH1 have an increased risk for developing colorectal cancer. Here we described a 5-generation Chinese Lynch syndrome family with different severity and onset age. A novel heterozygous germline mutation (c.3G>T, p.Met1Ile) inMLH1gene was discovered by next generation sequencing. Our study also revealed by qPCR that the MLH1 mRNA expression in peripheral blood of patients in this family was remarkably lower than that of the unaffected carriers and non-carriers. The research results indicated that the mRNA expression level may provide predictive suggestions of treatment and management for carriers with the initiation codon mutation ofMLH1in this family. Further studies are undertaken in this family as well as other families with Lynch syndrome to interrogate the exact reasons affecting the MLH1 mRNA expression level and whether mRNA expression in peripheral blood could be a significant factor for early diagnosis and surveillance of Lynch syndrome.

scholarly journals A frameshift mutation in exon 19 of MLH1 in a Chinese Lynch syndrome family: a pedigree study

2019 ◽  
Vol 20 (1) ◽  
pp. 105-108 ◽  
Author(s):  
Qiao-qi Sui ◽  
Wu Jiang ◽  
Xiao-dan Wu ◽  
Yi-hong Ling ◽  
Zhi-zhong Pan ◽  
...  
Keyword(s):  
Lynch Syndrome ◽  
Frameshift Mutation ◽  
Lynch Syndrome Family ◽  
Exon 19

A germline missense mutation in exon 3 of the MSH2 gene in a Lynch syndrome family: correlation with phenotype and localization assay

2017 ◽  
Vol 17 (2) ◽  
pp. 215-224
Author(s):  
Francesca Bianchi ◽  
Elena Maccaroni ◽  
Laura Belvederesi ◽  
Cristiana Brugiati ◽  
Riccardo Giampieri ◽  
...  
Keyword(s):  
Lynch Syndrome ◽  
Missense Mutation ◽  
Msh2 Gene ◽  
Lynch Syndrome Family

A putative Lynch syndrome family carrying MSH2 and MSH6 variants of uncertain significance—functional analysis reveals the pathogenic one

2011 ◽  
Vol 10 (3) ◽  
pp. 515-520 ◽  
Author(s):  
Jukka Kantelinen ◽  
Thomas v. O. Hansen ◽  
Minttu Kansikas ◽  
Lotte Nylandsted Krogh ◽  
Mari K. Korhonen ◽  
...  
Keyword(s):  
Functional Analysis ◽  
Lynch Syndrome ◽  
Variants Of Uncertain Significance ◽  
Uncertain Significance ◽  
Lynch Syndrome Family

Segregation of a novel MLH1 mutation in an Iranian Lynch syndrome family

Gene ◽  
2015 ◽  
Vol 570 (2) ◽  
pp. 304-305 ◽  
Author(s):  
Soudeh Ghafouri-Fard ◽  
Majid Fardaei ◽  
Kamran Bagheri Lankarani ◽  
Mohammad Miryounesi
Keyword(s):  
Lynch Syndrome ◽  
Lynch Syndrome Family

scholarly journals A Novel Germline MLH1 In-Frame Deletion in a Slovenian Lynch Syndrome Family Associated with Uncommon Isolated PMS2 Loss in Tumor Tissue

Genes ◽  
2020 ◽  
Vol 11 (3) ◽  
pp. 325
Author(s):  
Gašper Klančar ◽  
Ana Blatnik ◽  
Vita Šetrajčič Dragoš ◽  
Vesna Vogrič ◽  
Vida Stegel ◽  
...  
Keyword(s):  
Lynch Syndrome ◽  
Tumor Tissue ◽  
Molecular Genetic ◽  
The Novel ◽  
Protein Loss ◽  
Nccn Guidelines ◽  
Dna Mismatch ◽  
Pathogenic Variants ◽  
Novel Variant ◽  
Lynch Syndrome Family

The diagnostics of Lynch syndrome (LS) is focused on the detection of DNA mismatch repair (MMR) system deficiency. MMR deficiency can be detected on tumor tissue by microsatellite instability (MSI) using molecular genetic test or by loss of expression of one of the four proteins (MLH1, MSH2, MSH6, and PMS2) involved in the MMR system using immunohistochemistry (IHC) staining. According to the National Comprehensive Cancer Network (NCCN) guidelines, definitive diagnosis of LS requires the identification of the germline pathogenic variant in one of the MMR genes. In the report, we are presenting interesting novel MLH1 in-frame deletion LRG_216t1:c.2236_2247delCTGCCTGATCTA p.(Leu746_Leu749del) associated with LS. The variant appears to be associated with uncommon isolated loss of PMS2 immunohistochemistry protein staining (expression) in tumor tissue instead of MLH1 and PMS2 protein loss, which is commonly seen with pathogenic variants in MLH1. The variant was classified as likely pathogenic, based on segregation analysis and molecular characterization of blood and tumor samples. According to the American College of Medical Genetics (ACMG) guidelines, the following evidence categories of PM1, PM2, PM4, and PP1 moderate have been used for classification of the novel variant. By detecting and classifying the novel MLH1 variant as likely pathogenic, we confirmed the LS in this family.

Characterization of a germline splice site variant MLH1 c.678-3T>A in a Lynch syndrome family

2020 ◽  
Vol 19 (4) ◽  
pp. 315-322
Author(s):  
Ciyu Yang ◽  
Margaret Sheehan ◽  
Ester Borras ◽  
Karen Cadoo ◽  
Kenneth Offit ◽  
...  
Keyword(s):  
Lynch Syndrome ◽  
Splice Site ◽  
Lynch Syndrome Family ◽  
Splice Site Variant

A new mutation in the hMSH2 gene in a Spanish Lynch syndrome family

2010 ◽  
Vol 12 (12) ◽  
pp. 849-851
Author(s):  
Ruth Zárate ◽  
Ana Patiño-García ◽  
Jesús Sola ◽  
Jesús García-Foncillas
Keyword(s):  
Lynch Syndrome ◽  
New Mutation ◽  
Lynch Syndrome Family

Endometrial Carcinoma in Women Aged 40 Years and Younger

2014 ◽  
Vol 138 (3) ◽  
pp. 335-342 ◽  
Author(s):  
Karuna Garg ◽  
Robert A. Soslow
Keyword(s):  
Lynch Syndrome ◽  
Endometrial Carcinoma ◽  
Current Knowledge ◽  
Young Patients ◽  
Data Sources ◽  
Low Grade ◽  
Age Group ◽  
Clinical Behavior ◽  
Ovarian Conservation ◽  
Endometrial Carcinomas

Context.—Endometrial carcinoma is a disease of older postmenopausal women, and is relatively uncommon in patients younger than 40 years. Endometrial carcinomas in this age group may be familial, associated with Lynch syndrome, or sporadic. Objectives.—To present our current knowledge of endometrial carcinomas in women younger than 40 years. Data Sources.—The review is based on previously published articles on this topic. Conclusions.—Most endometrial carcinomas that occur in this age group are associated with estrogen excess. They are usually low-grade endometrioid carcinomas that present at low stages and are associated with favorable clinical outcomes. Tumors associated with mismatch repair abnormalities and Lynch syndrome appear to be distinct, with worse prognostic factors and, possibly, clinical behavior. Conservative hormonal therapy and ovarian conservation are reasonable considerations in the management of these young patients, but carry the risk of tumor progression, recurrence, and an occult synchronous or metachronous ovarian carcinoma.

Detailed characterization of MLH1 p.D41H and p.N710D variants coexisting in a Lynch syndrome family with conserved MLH1 expression tumors

2014 ◽  
Vol 87 (6) ◽  
pp. 543-548 ◽  
Author(s):  
M. Pineda ◽  
M. González-Acosta ◽  
B.A. Thompson ◽  
R. Sánchez ◽  
C. Gómez ◽  
...  
Keyword(s):  
Lynch Syndrome ◽  
Detailed Characterization ◽  
Lynch Syndrome Family
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