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Cascade genetic testing in hereditary cancer: exploring the boundaries of the Italian legal framework
Cascade genetic testing in hereditary cancer: exploring the boundaries of the Italian legal framework
Despite its clinical value, cascade genetic testing (CGT) in hereditary cancer syndromes remains underutilized for a numbe...
Hereditary breast and ovarian cancer genetic testing in unselected patients: example of private supplementation of public healthcare service
Hereditary breast and ovarian cancer genetic testing in unselected patients: example of private supplementation of public healthcare service
In the Emilia-Romagna region (Northern Italy), the identification and management of women at familial/hereditary risk of b...
A family-based approach to cascade genetic testing in a pediatric cancer genetics clinic
A family-based approach to cascade genetic testing in a pediatric cancer genetics clinic
Hereditary cancer predisposition disorders account for up to 10% of all pediatric cancers. Genetic counseling for families...
Overlap syndrome of hereditary hemorrhagic telangiectasia and juvenile polyposis syndrome: ten years follow-up-case series and review of literature
Overlap syndrome of hereditary hemorrhagic telangiectasia and juvenile polyposis syndrome: ten years follow-up-case series and review of literature
Hereditary Hemorrhagic Telangiectasia (HHT) is an autosomal vascular dysplasia characterized by the presence of mucocutane...
BRCAIndica: a resource for ACMG/AMP classified BRCA1 and BRCA2 variants
BRCAIndica: a resource for ACMG/AMP classified BRCA1 and BRCA2 variants
As genetic testing becomes increasingly accessible and affordable, the uniform and accurate interpretation of genetic vari...
Prevalence of cardiometabolic outcomes in women who underwent salpingo-oophorectomy to prevent hereditary breast and ovarian cancer: a meta-analysis
Prevalence of cardiometabolic outcomes in women who underwent salpingo-oophorectomy to prevent hereditary breast and ovarian cancer: a meta-analysis
Risk reduction salpingo-oophorectomy (RRSO) is usually performed in women with hereditary breast and ovarian cancer (HBOC)...
Mainstreaming cancer genetics: feasibility of an advanced nurse practitioner-led service diagnosing Lynch syndrome from colorectal cancer in Ireland
Mainstreaming cancer genetics: feasibility of an advanced nurse practitioner-led service diagnosing Lynch syndrome from colorectal cancer in Ireland
Colorectal cancer (CRC) is a common cancer in Ireland. Of all CRCs, 2–4% are attributable to Lynch Syndrome (LS), th...
Germline pathogenic variants in RNF43 in patients with and without serrated polyposis syndrome
Germline pathogenic variants in RNF43 in patients with and without serrated polyposis syndrome
Serrated Polyposis Syndrome (SPS) is characterized by multiple and/or large serrated polyps in the colon and an increased ...
The genetic landscape of Lynch syndrome in the Israeli population
The genetic landscape of Lynch syndrome in the Israeli population
Deciphering the spectrum and founder disease-causing variants (DCVs) in specific populations can shape and facilitate the ...
Digital innovation for cancer risk assessment allows large-scale service redevelopment of regional cancer genetics service delivery
Digital innovation for cancer risk assessment allows large-scale service redevelopment of regional cancer genetics service delivery
Family-history assessment can identify individuals above population-risk for cancer to enable targeted Screening, Preventi...
MSH6-proficient crypt foci in MSH6 constitutional mismatch repair deficiency: reversion of a frameshifted coding microsatellite to its wild-type sequence
MSH6-proficient crypt foci in MSH6 constitutional mismatch repair deficiency: reversion of a frameshifted coding microsatellite to its wild-type sequence
The discovery of “mismatch repair deficient (MMRd)-crypt foci” in non-neoplastic intestinal mucosa in Lynch sy...
Germline p.R181H variant in TP53 in a family exemplifying the genotype-phenotype correlations in Li-Fraumeni syndrome
Germline p.R181H variant in TP53 in a family exemplifying the genotype-phenotype correlations in Li-Fraumeni syndrome
Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with germline pathogenic/likely pathogenic varia...
Endoscopic screening for identification of signet ring cell gastric cancer foci in carriers of germline pathogenic variants in CDH1
Endoscopic screening for identification of signet ring cell gastric cancer foci in carriers of germline pathogenic variants in CDH1
To determine the preoperative detection of signet ring cancer cells (SRC) on upper endoscopy (EGD) in patients with CDH1 p...
Asymptomatic Bloom syndrome diagnosed by chance in a patient with breast cancer
Asymptomatic Bloom syndrome diagnosed by chance in a patient with breast cancer
Bloom syndrome (BS) is a rare genetic disorder caused by biallelic inactivation of the BLM gene, which usually manifests i...
Complications of colonoscopy surveillance of patients with Lynch syndrome – 33 years of follow up
Complications of colonoscopy surveillance of patients with Lynch syndrome – 33 years of follow up
Background and study aims: Lynch syndrome (LS) is a hereditary autosomal dominant condition, with an increased lifetime ri...
Metastatic disease after removal of a renal cell carcinoma smaller than 3 cm in a patient with Birt-Hogg-Dubé syndrome, a case report
Metastatic disease after removal of a renal cell carcinoma smaller than 3 cm in a patient with Birt-Hogg-Dubé syndrome, a case report
To the best of our knowledge, this is the first report of metastasized chromophobe RCC, after complete resection of a prim...
Misclassification of a frequent variant from PMS2CL pseudogene as a PMS2 loss of function variant in Brazilian patients
Misclassification of a frequent variant from PMS2CL pseudogene as a PMS2 loss of function variant in Brazilian patients
PMS2, a Lynch Syndrome gene, presents challenges in genetic testing due to the existence of multiple pseudogenes. This stu...
Risk-reducing salpingectomy with delayed oophorectomy to prevent ovarian cancer in women with an increased inherited risk: insights into an alternative strategy
Risk-reducing salpingectomy with delayed oophorectomy to prevent ovarian cancer in women with an increased inherited risk: insights into an alternative strategy
Epithelial ovarian cancer (EOC) is the most lethal type of gynaecological cancer, due to lack of effective screening possi...
Benign tumors and non-melanoma skin cancers in patients with Fanconi anemia
Benign tumors and non-melanoma skin cancers in patients with Fanconi anemia
Fanconi anemia (FA) is an inherited bone marrow failure syndrome (IBMFS) characterized by pathogenic variants in the FA/BR...
In memoriam: Gloria Petersen, PhD (1950-2023)
In memoriam: Gloria Petersen, PhD (1950-2023)
On January 8, 2023, Gloria Petersen passed away at the age of 72. Gloria was a major ...
Detection of a major Lynch Syndrome-causing MLH1 founder variant in a large-scale genotyped cohort
Detection of a major Lynch Syndrome-causing MLH1 founder variant in a large-scale genotyped cohort
Some 50% of Finnish Lynch Syndrome (LS) cases are caused by a founder variant in MLH1, in which the entire exon 16 has bee...
Twenty-five years of surveillance for familial and hereditary pancreatic ductal adenocarcinoma: Historical perspectives and introduction to the special issue
Twenty-five years of surveillance for familial and hereditary pancreatic ductal adenocarcinoma: Historical perspectives and introduction to the special issue
In the 1990s, as prevention became a central strategy in the battle against cancer and the molecular genetics revolution u...
A retrospective cohort study of genetic referral and diagnosis of Birt-Hogg-Dubé Syndrome in patients with Trichodiscoma and Fibrofolliculoma skin lesions
A retrospective cohort study of genetic referral and diagnosis of Birt-Hogg-Dubé Syndrome in patients with Trichodiscoma and Fibrofolliculoma skin lesions
Birt-Hogg-Dubé (BHD) syndrome is a genetic condition caused by pathogenic variants in the FLCN gene resulting in beni...
Somatic STK11 mosaicism in a Turkish patient with Peutz-Jeghers syndrome
Somatic STK11 mosaicism in a Turkish patient with Peutz-Jeghers syndrome
Peutz-Jeghers syndrome (PJS) is an autosomal dominant disorder, caused by germline variants in the serine/threonine kinase...
Attitudes toward genetic testing, family planning and preimplantation genetic testing in families with a germline CDKN2A pathogenic variant
Attitudes toward genetic testing, family planning and preimplantation genetic testing in families with a germline CDKN2A pathogenic variant
Individuals with a germline CDKN2A pathogenic variant (PV) have a highly increased life time risk of melanoma and pancreat...
Optimizing the detection of hereditary predisposition in women with epithelial ovarian cancer: nationwide implementation of the Tumor-First workflow
Optimizing the detection of hereditary predisposition in women with epithelial ovarian cancer: nationwide implementation of the Tumor-First workflow
Genetic testing in patients with ovarian carcinoma (OC) is crucial, as around 10–15% of these women have a genetic p...
Novel telomerase reverse transcriptase gene mutation in a family with aplastic anaemia
Novel telomerase reverse transcriptase gene mutation in a family with aplastic anaemia
Telomerase Reverse Transcriptase (TERT) encodes the telomerase reverse transcriptase enzyme and is the most frequently mut...
Review of the cost-effectiveness of surveillance for hereditary pancreatic cancer
Review of the cost-effectiveness of surveillance for hereditary pancreatic cancer
Individuals with hereditary pancreatic cancer risk include high risk individuals (HRIs) with germline genetic susceptibili...
The best linear unbiased prediction (BLUP) method as a tool to estimate the lifetime risk of pancreatic ductal adenocarcinoma in high-risk individuals with no known pathogenic germline variants
The best linear unbiased prediction (BLUP) method as a tool to estimate the lifetime risk of pancreatic ductal adenocarcinoma in high-risk individuals with no known pathogenic germline variants
Pancreatic ductal adenocarcinoma (PDAC) is the fourth leading cause of cancer-related death in the Western world. The numb...
A de novo germline pathogenic BRCA1 variant identified following an osteosarcoma pangenomic molecular analysis
A de novo germline pathogenic BRCA1 variant identified following an osteosarcoma pangenomic molecular analysis
De novo germline pathogenic variants (gPV) of the BReast CAncer 1 (BRCA1) gene are very rare. Only a few have been describ...
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