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Explore our Medical and Scientific content to learn more about rare diseases and their testing methods or about current hot topics in Medical Genetics. Exploit our publications to get hints for testing, or even to direct the Genetic Counseling for your patients.  

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Fibromyalgia: the genetic differential diagnosis

Recommended Breda Genetics panel testing for this condition (EXOME PANEL): Fibromyalgia, genetic differential diagnosis of (APOPT1, ACADVL, AMPD1, C12ORF62, CAV3, CLCN1, CNBP, COA3, COA5, COA6, COL1A1, COL5A1, COL5A2, COX10, COX14, COX15, COX20, COX6B1, CPT2, ENO3, FARS2, FASTKD2, FMR1, GAA, LDHA, LRPPRC, MTCO1, MTCO2, MTCO3, MTTL1 MTTS1, NOD2, PET100, PFKM, PGAM2, PGM1, PMP22, POLG, PYGM, SCO1, SCO2, SLC16A1, SPR, SURF1, TACO1, TNFRSF1A, TNXB). Summary Fibromyalgia syndrome

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References for BRCA1/BRCA2 article

Tumor Genetic Testing References for BRCA1/BRCA2 articleAl Bakir M, Gabra H. The molecular genetics of hereditary and sporadic ovarian cancer: implications for the future. Br Med Bull. 2014 Dec;112(1):57-69. Baretta Z, Mocellin S, Goldin E, Olopade OI, Huo D. Effect of BRCA germline mutations on breast cancer prognosis: A systematic review and meta-analysis. Medicine (Baltimore). 2016 Oct;95(40):e4975. Castro E, Eeles R. The role of BRCA1

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Current strategies in BRCA1/BRCA2 molecular testing

Tumor Genetic Testing Summary We summarize here strategies to adopt when testing individuals for BRCA1 and BRCA2 mutations based on positive or negative family history. Any comments or personal experiences are welcome in the comments section. For an introduction on the BRCA1 and BRCA2 genes, you can read our BRCA1 and BRCA2 deep dive page here or our clinical card on hereditary breast and ovarian cancer syndrome. Probands from a family with

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BRCA1 and BRCA2: the mutational spectrum

Tumor Genetic Testing Thousands of sequence variants have been so far identified in the BRCA1 and BRCA2 genes through the analysis of breast cancer families and population-based case studies. A total of 19.655 different mutations and polymorphisms are reported in the BRCA1 gene by dal BRCA Exchange, whereas the same database reports 20.734 unique mutations and polymorphisms in the BRCA2 gene (last updated January 2021).

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BRCA1, BRCA2 and their products

Tumor Genetic Testing BRCA1, BRCA2 and their productsBoth BRCA1 and BRCA2 are involved in maintenance of genome stability, as they are crucial for the process of DNA repair by homologous recombination (HRR), which is considered to be a conservative form of DNA repair, largely involved in repairing DNA lesions that stall DNA replication forks and/or cause DNA double-strand breaks. Although there are many ostensibly distinct

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Current methods for BRCA1/BRCA2 molecular analysis

Current Methods for BRCA1/BRCA2 molecular analysis BRCA testing is commonly performed by direct Sanger sequencing. This method is considered the ‘gold standard’ of DNA sequencing. It is technologically reliable, widely available, and has a relatively simple workflow. The drawbacks of Sanger sequencing are: • limited throughput • lower cost-effectiveness compared to next-generation sequencing (NGS) • inability to detect large genomic rearrangements (LGRs; e.g.: large deletions/duplications)

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BRCA1/BRCA2 related cancers

Tumor Genetic Testing Breast Cancer In women, breast cancer accounts for 15% of cancer-related deaths. 10% of women affected by breast cancer have a family history of the disease. Compared with women without a family history, women with one first-degree relative with premenopausal breast cancer are at 3.3-fold greater risk, and women with two first-degree relatives with breast cancer are at 3.6-fold greater risk.Hereditary forms

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BRCA1 and BRCA2: deep dive!

Tumor Genetic Testing Germline mutations in the BRCA1 and BRCA2 genes result in a high increased lifetime risk of developing breast and ovarian cancer and, to a lesser extent, other types of cancer such as prostate cancer, pancreatic cancer and melanoma. BRCA1 and BRCA2 related susceptibility to breast and ovarian cancer (also known as hereditary cancer and ovarian syndrome) are inherited in an autosomal dominant manner. Most individuals with a BRCA1 or

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The Gold Week of Exome Sequencing

The Gold Week of Exome Sequencing has ended! Thank you for your samples! See you here soon for the next Gold Week with new pricing opportunities. GET A QUOTE: info@bredagenetics.com

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10 FAQs on hereditary hearing loss

Based on our genetic testing and genetic counseling experience, we’d like to answer some of the most frequently asked questions on hereditary hearing loss. For the complete disease card on nonsyndromic deafness and hearing loss you can click here. Neither my partner nor me are affected by hearing loss. None of our relatives is affected either.  Are we still at risk of having babies affected by hearing loss? Yes. There

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SMOC1 – NM_001034852.2:c.211C>T

SMOC1 OMIM: *608488 14q24.2 – NM_001034852.2 c.211C>T (p.Arg71*) exon 2 rs number / neighbourhood rs532566349 TGAGTACCAG[C/T]GAGCCAAGTG Genomic Coordinates GRCh37/hg19: chr14:70418966 GRCh38/hg38: chr14:69952249 Frequency ExAC: T=8.238e-06 1000GP: T=0.0002 ESP: not reported Pathogenic for microphthalmia with limb anomalies Reference: PMID: 21750680, PMID: 18541965. #1 PMID: 21750680, PMID: 18541965. Clinical Sign HPO ID Unilateral anophthalmia HP:0000528 Lower limbs, postaxial oligodactyly HP:0006210 Pierre-Robin sequence HP:0000201     Affected individual –

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SMOC1 – NM_001034852.2:c.223C>T

SMOC1 OMIM: *608488 14q24.2 – NM_001034852.2 c.223C>T (p.Arg75*) exon 2 rs number / neighbourhood rs370866589 AGCCAAGTGC[C/T]GAGACCCGAC Genomic Coordinates GRCh37/hg19:  chr14:70418978 GRCh38/hg38:  chr14:69952261 Frequency ExAC: T=3.295e-05 1000GP: not reported ESP: T=0.000077 Pathogenic for microphthalmia with limb anomalies Reference: PMID: 21750680, PMID: 6544388. #1 PMID: 21750680, PMID: 6544388. Clinical Sign HPO ID Bilateral anophthalmia HP:0000528 Upper Limb, bilateral 4-5 metacarpal fusion HP:0005867 Lower Limb, postaxial oligodactyly HP:0006210 Severe mental retardation

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SMOC1 – NM_001034852.2:c.378+1G>T

SMOC1 OMIM: *608488 14q24.2 – NM_001034852.2 c.378+1G>T intron 3 rs number / neighbourhood no rs number CTTTACCCAG[g/t]tgaggcctcg Genomic Coordinates GRCh37/hg19: chr14:70420250 GRCh38/hg38: chr14:69953533 Frequency ExAC: not reported 1000GP: not reported ESP: not reported Pathogenic for microphthalmia with limb anomalies Reference: PMID: 21194680. #1 PMID: 21194680. Clinical Sign HPO ID True anophthalmia Bilateral HP:0011478 Mild mental retardation HP:0001256 Broad lateral eyebrows HP:0011229 Sparse eyelashes HP:0000653 Short

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SMOC1 – NM_001034852.2:c.378+1G>A

SMOC1 OMIM: *608488 14q24.2 – NM_001034852.2 c.378+1G>A intron 3 rs number / neighbourhood rs751356341 CTTTACCCAG[g/a]tgaggcctcg Genomic Coordinates GRCh37/hg19: chr14:70420250 GRCh38/hg38: chr14:69953533 Frequency ExAC: A=8.27e-06 (filtered out) 1000GP: not reported ESP: not reported Reported in ClinVar as pathogenic for anophthalmos with limb anomalies (Variation ID: 30728) Pathogenic for microphthalmia with limb anomalies Reference: PMID: 21194678, PMID: 10607960. #1 PMID: 21194678, PMID: 10607960. Clinical Sign HPO ID Bilateral anophthalmia HP:0000528 Small face HP:0000274

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SMOC1 – NM_001034852.2:c.274C>T

SMOC1 OMIM: *608488 14q24.2 – NM_001034852.2 c.274C>T (p.Gln92*) exon 3 rs number / neighbourhood rs781216969 AGATGCTGGC[C/T]AGAGCAAGTG Genomic Coordinates GRCh37/hg19: chr14:70420145 GRCh38/hg38: chr14:69953428 Frequency ExAC: T=8.24e-06 1000GP: not reported ESP: not reported Pathogenic for microphthalmia with limb anomalies Reference: PMID: 21750680. #1 PMID: 21750680. Clinical Sign HPO ID Bilateral anophthalmia HP:0000528 Upper limbs, contractures of fingers HP:0100490 Lower Limb, postaxial oligodactyly HP:0006210 Lower Limb, 2-3 toe cutaneous

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SMOC1 – NM_001034852.2:c.395dupA

SMOC1 OMIM: *608488 14q24.2 – NM_001034852.2 c.395dupA (p.Tyr132fs*1) exon 4 rs number / neighbourhood no rs number TGCCATACTTA[-/A]CACTGGGTAC Genomic Coordinates GRCh37/hg19: chr14:70442448 GRCh38/hg38: chr14:69975731 Frequency ExAC: not reported 1000GP: not reported ESP: not reported Pathogenic for microphthalmia with limb anomalies Reference: PMID: 21750680, PMID: 17375532. #1 PMID: 21750680, PMID: 17375532. Clinical Sign HPO ID Bilateral anophthalmia HP:0000528 Upper limbs, bilateral 4/5 metacarpal fusion HP:0005867 Lower Limb, postaxial oligodactyly

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SMOC1 – NM_001034852.2:c.664+1G>A

SMOC1 OMIM: *608488 14q24.2 – NM_001034852.2 c.664+1G>A intron 7 rs number / neighbourhood no rs number AGAAATTCAG[g/a]taaataacct Genomic Coordinates GRCh37/hg19: chr14:70461198 GRCh38/hg38: chr14:69994481 Frequency ExAC: not reported 1000GP: not reported ESP: not reported Reported in ClinVar as pathogenic for anophthalmos with limb anomalies (Variation ID: 30727) Pathogenic for microphthalmia with limb anomalies Reference: PMID: 21194678, PMID: 19208380. #1 PMID: 21194678, PMID: 19208380. Clinical Sign HPO ID Bilateral anophthalmia

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SMOC1 – NM_001034852.2:c.718C>T

SMOC1 OMIM: *608488 14q24.2 – NM_001034852.2 c.718C>T (Gln240*) exon 8 rs number / neighbourhood rs376672665 AGAGGCCCAG[C/T]AGAATCCCCG Genomic Coordinates GRCh37/hg19: chr14:70477524 GRCh38/hg38: chr14:70010807 Frequency ExAC: not reported 1000GP: not reported ESP: not reported The variant has been reported in ClinVar as pathogenic for anophthalmos with limb anomalies (Variation ID: 30726) The variant has been reported in the OMIM Allelic Variants List for the SMOC1 gene (.0001) Pathogenic for

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SMOC1 – NM_001034852.2:c.832C>T

SMOC1 OMIM: *608488 14q24.2 – NM_001034852.2 c.832C>T (p.Arg278Cys) exon 8 rs number / neighbourhood rs776638586 GGACACAGGG[C/T]GCCCGCTGCC Genomic Coordinates GRCh37/hg19: chr14:70477638 GRCh38/hg38: chr14:70010921 Frequency ExAC: T=1.658e-05 1000GP: not reported ESP: not reported Pathogenic for microphthalmia with limb anomalies Reference: PMID: 21750680, PMID: 6544388. #1 PMID: 21750680, PMID: 6544388. Clinical Sign HPO ID Bilateral anophthalmia HP:0000528 Upper limbs, clinodactyly of the 5th finger HP:0004209 Lower Limb, cutaneous syndactyly

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SMOC1 – NM_001034852.2:c.848C>A

SMOC1 OMIM: *608488 14q24.2 – NM_001034852.2 c.848C>A (p.Thr283Asn) exon 8 rs number / neighbourhood no rs number CTGCCTGGGA[C/A]CTCCACACGG Genomic Coordinates GRCh37/hg19: chr14:70477654 GRCh38/hg38: chr14:70010937 Frequency ExAC: not reported 1000GP: not reported ESP: not reported Pathogenic for microphthalmia with limb anomalies Reference: PMID: 21750680, PMID: 7573150. #1 PMID: 21750680, PMID: 7573150. Clinical Sign HPO ID Bilateral anophthalmia HP:0000528 Upper limbs, short 5th metacarpal HP:0010047 Lower limbs, right fusion

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