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Pilot study of a decision aid on BRCA1/2 genetic testing among Orthodox Jewish women
Pilot study of a decision aid on BRCA1/2 genetic testing among Orthodox Jewish women
Orthodox Jewish women face unique social, cultural, and religious factors that may influence uptake of BRCA1/2 genetic tes...
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...
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...
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...
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...
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...
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 ...
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 ...
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...
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...
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...
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...
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 ...
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...
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