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Myelodysplastic syndrome with dual germline and variants: a rare genetic predisposition case
Myelodysplastic syndrome with dual germline and variants: a rare genetic predisposition case
Germline variants in RUNX1 and DDX41 are well-established contributors to hereditary myeloid neoplasms and are increasingl...
Identification of a germline deep intronic -deletion leading to exonization through whole genome and targeted RNA sequencing
Identification of a germline deep intronic -deletion leading to exonization through whole genome and targeted RNA sequencing
PTEN Hamartoma Tumor Syndrome (PHTS) is an autosomal dominant disorder characterized by high penetrance and significant ph...
New gene variant in colorectal cancer diagnosis: insight from a large series of patients
New gene variant in colorectal cancer diagnosis: insight from a large series of patients
Germline pathogenic variants of the RPS20 (ribosomal protein S20) gene are suspected to be involved in the predisposition ...
A novel likely pathogenic germline variant in in a patient with MEN4 and medullary thyroid cancer
A novel likely pathogenic germline variant in in a patient with MEN4 and medullary thyroid cancer
Multiple endocrine neoplasia type 4 (MEN4) is caused by a germline CDKN1B deleterious variant. CDKN1B encodes p27Kip1, a c...
Addressing uncertainty in hereditary colorectal cancer: the role of a regional expert multidisciplinary team meeting
Addressing uncertainty in hereditary colorectal cancer: the role of a regional expert multidisciplinary team meeting
There is frequent uncertainty in both the precise quantification of risk, and the application of clinical interventions, d...
Azacitidine and venetoclax for the treatment of AML arising from an underlying telomere biology disorder
Azacitidine and venetoclax for the treatment of AML arising from an underlying telomere biology disorder
Telomere biology disorders (TBDs) are a group of genetic conditions characterized by defects in telomere maintenance leadi...
The European Reference Network on Genetic Tumour Risk Syndromes (ERN GENTURIS): benefits for patients, families, and health care providers
The European Reference Network on Genetic Tumour Risk Syndromes (ERN GENTURIS): benefits for patients, families, and health care providers
The European Reference Network on Genetic Tumour Risk Syndromes (ERN GENTURIS) established in 2017 and connecting more tha...
The patterns and spectrum of and mutations in Iranian breast and ovarian cancer patients
The patterns and spectrum of and mutations in Iranian breast and ovarian cancer patients
Women with inherited BRCA1/2 mutations are at increased risk of breast and ovarian cancer. The reports on the prevalence a...
Causes of DNA mismatch repair deficiency in sebaceous skin lesions demonstrating loss of MLH1 protein expression: constitutional over somatic promoter methylation
Causes of DNA mismatch repair deficiency in sebaceous skin lesions demonstrating loss of MLH1 protein expression: constitutional over somatic promoter methylation
Approximately 30% of sebaceous skin lesions (or sebaceous neoplasia) demonstrate DNA mismatch repair (MMR)-deficiency. MMR...
One hundred years of the St Mark’s hospital polyposis registry
One hundred years of the St Mark’s hospital polyposis registry
The St Mark’s Hospital Polyposis Registry was founded in 1924, the first such unit in the world. This paper document...
Genetics, genomics and clinical features of adenomatous polyposis
Genetics, genomics and clinical features of adenomatous polyposis
Adenomatous polyposis syndromes are hereditary conditions characterised by the development of multiple adenomas in the gas...
A review of somatic mosaicism and specific variants - I1307K and promotor variants
A review of somatic mosaicism and specific variants - I1307K and promotor variants
In the majority of patients with a classical Familial Adenomatous Polyposis (FAP) a pathogenic APC germline variant is ide...
Inherited BRCA1 and RNF43 pathogenic variants in a familial colorectal cancer type X family
Inherited BRCA1 and RNF43 pathogenic variants in a familial colorectal cancer type X family
Genetic susceptibility to familial colorectal cancer (CRC), including for individuals classified as Familial Colorectal Ca...
Cascade testing in Italian Hereditary Breast Ovarian Cancer families: a missed opportunity for cancer prevention?
Cascade testing in Italian Hereditary Breast Ovarian Cancer families: a missed opportunity for cancer prevention?
Healthy carriers of BRCA1/2 pathogenic variants (PVs) may benefit from risk-reducing measures of proven efficacy. The main...
Functional and phenotypic consequences of an unusual inversion in MSH2
Functional and phenotypic consequences of an unusual inversion in MSH2
Lynch syndrome is an autosomal dominant disorder that usually results from a pathogenic germline variant in one of four ge...
Balancing the burden and benefits of colonoscopy in Lynch Syndrome
Balancing the burden and benefits of colonoscopy in Lynch Syndrome
Van Liere ELSA, Jacobs IL, Dekker E, Jacobs MAJM, de Boer NKH, Ramsoekh D (2023) Colonoscopy surveillance in Lynch syndrom...
PREMM5 distinguishes sporadic from Lynch syndrome-associated MMR-deficient/MSI-high colorectal cancer
PREMM5 distinguishes sporadic from Lynch syndrome-associated MMR-deficient/MSI-high colorectal cancer
Current algorithms for diagnosing Lynch syndrome (LS) include multistep molecular tumor tests to distinguish LS-associated...
Combining clinical and molecular characterization of CDH1: a multidisciplinary approach to reclassification of a splicing variant
Combining clinical and molecular characterization of CDH1: a multidisciplinary approach to reclassification of a splicing variant
Pathogenic germline variants (PGVs) in the CDH1 gene are associated with diffuse gastric and lobular breast cancer syndrom...
Prevalence and genetic spectrum associated with hereditary colorectal cancer syndromes, the need to improve cancer risk awareness, and family cascade testing in Vietnam
Prevalence and genetic spectrum associated with hereditary colorectal cancer syndromes, the need to improve cancer risk awareness, and family cascade testing in Vietnam
In Vietnam, colorectal cancer is one of the top diagnosed cancers, with 5–10% originating from inherited mutations. ...
Germline whole genome sequencing in adults with multiple primary tumors
Germline whole genome sequencing in adults with multiple primary tumors
Multiple primary tumors (MPTs) are a harbinger of hereditary cancer syndromes. Affected individuals often fit genetic test...
Willingness of individuals with Li-Fraumeni syndrome to participate in a cancer prevention trial: a survey study
Willingness of individuals with Li-Fraumeni syndrome to participate in a cancer prevention trial: a survey study
Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which...
Whole genome sequencing and disease pattern in patients with juvenile polyposis syndrome: a nationwide study
Whole genome sequencing and disease pattern in patients with juvenile polyposis syndrome: a nationwide study
Juvenile polyposis syndrome (JPS) is a hereditary hamartomatous polyposis syndrome characterized by gastrointestinal juven...
Mainstreamed genetic testing of breast cancer patients: experience from a single surgeon’s practice in a large US Academic Center
Mainstreamed genetic testing of breast cancer patients: experience from a single surgeon’s practice in a large US Academic Center
This study evaluated the impact of mainstreamed genetic testing (MGT) on the timing and uptake of testing in an academic b...
Cancer surveillance for transgender and gender diverse patients with Lynch syndrome: a practice resource of the Collaborative Group of the Americas on Inherited Gastrointestinal Cancer
Cancer surveillance for transgender and gender diverse patients with Lynch syndrome: a practice resource of the Collaborative Group of the Americas on Inherited Gastrointestinal Cancer
Transgender and gender diverse (TGD) populations with hereditary cancer syndromes face unique obstacles to identifying and...
Clinical and imaging modality factors impacting radiological interpretation of breast screening in young women with neurofibromatosis type 1
Clinical and imaging modality factors impacting radiological interpretation of breast screening in young women with neurofibromatosis type 1
Young women with Neurofibromatosis type 1 (NF1) have a high risk of developing breast cancer and poorer survival following...
A mosaic pathogenic variant in MSH6 causes MSH6-deficient colorectal and endometrial cancer in a patient classified as suspected Lynch syndrome: a case report
A mosaic pathogenic variant in MSH6 causes MSH6-deficient colorectal and endometrial cancer in a patient classified as suspected Lynch syndrome: a case report
Germline pathogenic variants in the DNA mismatch repair (MMR) genes (Lynch syndrome) predispose to colorectal (CRC) and en...
In deep bioinformatic characterization of a novel fumarate hydratase variant FH c.199T > G; (p.Tyr67Asp) in hereditary leiomyomatosis and renal cell carcinoma
In deep bioinformatic characterization of a novel fumarate hydratase variant FH c.199T > G; (p.Tyr67Asp) in hereditary leiomyomatosis and renal cell carcinoma
Hereditary leiomyomatosis and renal cell carcinoma (HLRCC) is a rare, autosomal dominant tumor predisposition syndrome cha...
Ninth International Symposium on Hereditary Breast and Ovarian Cancer
Ninth International Symposium on Hereditary Breast and Ovarian Cancer
Share this articleAnyone you share the following link with will be able to read this content:Get shareable linkSorry, a sh...
Reclassification of two germline DICER1 splicing variants leads to DICER1 syndrome diagnosis
Reclassification of two germline DICER1 splicing variants leads to DICER1 syndrome diagnosis
DICER1 syndrome is an inherited condition associated with an increased risk of developing hamartomatous and neopl...
Colonoscopy surveillance in Lynch syndrome is burdensome and frequently delayed
Colonoscopy surveillance in Lynch syndrome is burdensome and frequently delayed
Individuals with Lynch syndrome have an increased colorectal cancer risk, hence, biennial colonoscopy surveillance is reco...
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