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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...
The Spanish Familial Pancreatic Cancer Registry (PANGENFAM): a decade follow-up of individuals at high-risk for pancreatic cancer
The Spanish Familial Pancreatic Cancer Registry (PANGENFAM): a decade follow-up of individuals at high-risk for pancreatic cancer
The Spanish Familial Pancreatic Cancer Registry (PANGENFAM) was established in 2009 and aims to characterize the genotype ...
Clinical and genetic characteristics of carriers of the TP53 c.541C > T, p.Arg181Cys pathogenic variant causing hereditary cancer in patients of Arab-Muslim descent
Clinical and genetic characteristics of carriers of the TP53 c.541C > T, p.Arg181Cys pathogenic variant causing hereditary cancer in patients of Arab-Muslim descent
TP53 pathogenic variants cause Li-Fraumeni syndrome (LFS), with some variants causing an attenuated phenotype. Herein, we ...
Familial and hereditary pancreatic cancer in Japan
Familial and hereditary pancreatic cancer in Japan
As in Western countries, familial pancreatic cancer accounts for 5–7% of pancreatic cancer (PC) in Japan. Opportunit...
Expanding access to genetic testing for pancreatic cancer
Expanding access to genetic testing for pancreatic cancer
Among individuals with pancreatic ductal adenocarcinoma (PDAC) 5–10% have a pathogenic germline variant (PGV) in a P...
The response of pancreatic acinar cell carcinoma to platinum and olaparib therapy in a germline BRCA2 variant carrier: case report and literature review
The response of pancreatic acinar cell carcinoma to platinum and olaparib therapy in a germline BRCA2 variant carrier: case report and literature review
A 73-year-old Japanese man with a history of distal biliary cancer treated by pancreatoduodenectomy developed pancreatic a...
Screening for pancreatic cancer in high-risk individuals using MRI: optimization of scan techniques to detect small lesions
Screening for pancreatic cancer in high-risk individuals using MRI: optimization of scan techniques to detect small lesions
Pancreatic cancer has a dismal prognosis in the general population. However, early detection and treatment of disease in h...
A comprehensive characterization of the spectrum of MUTYH germline pathogenic variants in Latin America
A comprehensive characterization of the spectrum of MUTYH germline pathogenic variants in Latin America
MUTYH-Associated Polyposis (MAP) is caused by biallelic pathogenic germline variants in the MUTYH gene. However, individua...
Strategies for diagnosis and management of CMMRD in low-resource countries: report of a Tunisian family
Strategies for diagnosis and management of CMMRD in low-resource countries: report of a Tunisian family
Constitutional Mismatch Repair Deficiency (CMMRD) is a rare childhood cancer predisposition syndrome, caused by biallelic ...
Impact of hormonal contraception on endometrial histology in patients with Lynch syndrome, a retrospective pilot study
Impact of hormonal contraception on endometrial histology in patients with Lynch syndrome, a retrospective pilot study
Hormonal contraception (HC) is a well-recognized protection against endometrial cancer (EC) in the general population. It ...
The odyssee from surveillance to the detection of pancreatic cancer, total pancreatectomy, and its impact on life. insights from a p16-Leiden pathogenic variant carrier
The odyssee from surveillance to the detection of pancreatic cancer, total pancreatectomy, and its impact on life. insights from a p16-Leiden pathogenic variant carrier
I will begin my story in March 2001. That’s when pancreatic cancer was diagnosed in m...
Psychosocial barriers and facilitators for cascade genetic testing in hereditary breast and ovarian cancer: a scoping review
Psychosocial barriers and facilitators for cascade genetic testing in hereditary breast and ovarian cancer: a scoping review
Despite increased awareness and availability of genetic testing for hereditary breast and ovarian cancer (HBOC) syndrome f...
Cascade testing for hereditary cancer in Singapore: how population genomics help guide clinical policy
Cascade testing for hereditary cancer in Singapore: how population genomics help guide clinical policy
Hereditary Cancer makes up around 5–10% of all cancers. It is important to diagnose hereditary cancer in a timely fa...
Surgical aspects related to hereditary pancreatic cancer
Surgical aspects related to hereditary pancreatic cancer
The goal of surveillance programs for individuals at risk (IAR) from familial pancreatic cancer (FPC) families or families...
Aspects and outcomes of surveillance for individuals at high-risk of pancreatic cancer
Aspects and outcomes of surveillance for individuals at high-risk of pancreatic cancer
Pancreatic ductal adenocarcinoma (PDAC) is a leading cause of cancer-related deaths and is associated with a poor prognosi...
Evaluation of EGFR and COX pathway inhibition in human colon organoids of serrated polyposis and other hereditary cancer syndromes
Evaluation of EGFR and COX pathway inhibition in human colon organoids of serrated polyposis and other hereditary cancer syndromes
Serrated polyposis syndrome (SPS) presents with multiple sessile serrated lesions (SSL) in the large intestine and confers...
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