Abstract 4445: Defining a pipeline to use next generation sequencing for genetic testing in hereditary cancer

2012 ◽  
Author(s):  
Conxi Lazaro ◽  
Adriana López-Doriga ◽  
Ester Castellsagué ◽  
Jesús del Valle ◽  
Eva Tornero ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Next Generation Sequencing ◽  
Hereditary Cancer ◽  
Next Generation ◽  
Generation Sequencing

scholarly journals Frequency of variants of hereditary cancer risk syndrome in 1682 Brazilian patients genotyped by next-generation sequencing

2021 ◽  
Author(s):  
Jarbas Maciel de Oliveira ◽  
Nuria Bengala Zurro ◽  
Antonio Victor Campos Coelho ◽  
Marcel Pinheiro Caraciolo ◽  
Rodrigo Bertollo de Alexandre ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Next Generation Sequencing ◽  
Cancer Risk ◽  
Hereditary Cancer ◽  
False Negative ◽  
Health Agency ◽  
Substantial Part ◽  
Next Generation ◽  
Germline Variants ◽  
Generation Sequencing

Hereditary cancer risk syndromes are a group of disorders caused by germline variants in a growing number of genes. Most studies on hereditary cancer have been conducted in white populations. Here we report the largest study in Brazilian individuals with multiple, self-reported, ethnicities. We genotyped 1682 individuals from all regions of the country who were referred to genetic testing for hereditary cancer risk with multigene Next-generation sequencing (NGS) panels. Most were women, and had a personal and/or family history of cancer. The majority of cancer cases were breast and ovarian. We identified a total of 321 pathogenic/likely pathogenic (P/LP) variants in 305 people (18.1%), corresponding to 166 unique variants. These variants were distributed among 32 genes, and most were detected on BRCA1 and BRCA2 (129 patients, 26.2% and 14.3% of all P/LP hits, respectively). The prevalence of any genes transheterozygosity in our sample was 0.89% (15/1682). The BRCA1/BRCA2 double heterozygosity rate was 0.78% (1/129) for BRCA variants carriers and 0.06% (1/1682) overall. We classified patients according to the NCCN and Brazilian National Health Agency (ANS) genetic testing recommendation criteria. We found that the criteria had false negative rates of 17.3% and 44.2%, meaning that both failed to detect a substantial part of P/LP positive patients. Therefore, our results show that NGS adds to knowledge on the Brazilian spectrum of germline variants associated with cancer risk and indicate that Brazilian testing guidelines should be improved.

scholarly journals Next generation sequencing of RB1gene for the molecular diagnosis of ethnic minority with retinoblastoma in Yunnan

2020 ◽  
Author(s):  
Huaiyu Gu ◽  
Zhen Zhang ◽  
Yi-shuang Xiao ◽  
Ru Shen ◽  
Hong-chao Jiang ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Next Generation Sequencing ◽  
Low Income ◽  
Eastern China ◽  
Low Income Countries ◽  
Next Generation ◽  
Single Nucleotide Variants ◽  
Bioinformatics Pipeline ◽  
Generation Sequencing

Abstract Background: Retinoblastoma is a rare intraocular malignancy and typically initiated by inactivating biallelic mutations of RB1 gene. Each year, ~8,000 children worldwide are diagnosed for retinoblastoma. In high-income countries, patient survival is over 95% while low-income countries is ~30%.If disease is diagnosed early and treated in centers specializing in retinoblastoma, the survival might exceed 95% and many eyes could be safely treated and support a lifetime of good vision. In China, approximate 1,100 newly diagnosed cases are expected annually and 28 hospitals covering 25 provinces established centers classified by expertise and resources for better treatment options and follow-up. Comparing with other province of eastern China, Yunnan province is remote geographically. This might result that healthcare staff have low awareness of the role of genetic testing in management and screening in families.Methods: The patients with retinoblastoma were selected in Yunnan. DNA from blood was used for targeted gene sequencing. Then, an in-house bioinformatics pipeline was done to detect both single nucleotide variants and small insertions/deletions. The pathogenic mutations were identified and further confirmed by conventional methods and cosegregation in families.Results: Using our approach, targeted next generation sequencing was used to detect the mutation of these 12 probands. Bioinformatic predictions showed that nine mutations were found in our study and four were novel pathogenic variants in these nine mutations.Conclusions: It’s the first report to describe RB1 mutations in Yunnan children with retinoblastoma. This study would improve role of genetic testing for management and family screening.

Brain MRI in Monogenic Cerebral Small Vessel Diseases: A Practical Handbook

2021 ◽  
Vol 21 ◽  
Author(s):  
Leonardo Ulivi ◽  
Mirco Cosottini ◽  
Gianmichele Migaleddu ◽  
Giovanni Orlandi ◽  
Nicola Giannini ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Next Generation Sequencing ◽  
Small Vessel Disease ◽  
Brain Mri ◽  
Cerebral Small Vessel Disease ◽  
Small Vessel ◽  
Next Generation ◽  
Vessel Disease ◽  
Generation Sequencing ◽  
Cerebral Small Vessel Diseases

: Monogenic cerebral small vessel diseases are a topic of growing interest, as several genes responsible have been recently described and new sequencing techniques such as Next generation sequencing are available. Brain imaging is a key exam in these diseases. First, since it is often the first exam performed, an MRI is key in selecting patients for genetic testing and for interpreting Next generation sequencing reports. In addition, neuroimaging can be helpful in describing the underlying pathological mechanisms involved in cerebral small vessel disease. With this review, we aim to provide Neurologists and Stroke physicians with an up-to date overview of the current neuroimaging knowledge on monogenic small vessel diseases.

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