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Analysis of informed consent forms of patients undergoing cancer genetic testing in the era of next-generation sequencing
Analysis of informed consent forms of patients undergoing cancer genetic testing in the era of next-generation sequencing
The Department of Clinical Cancer Genetics at the Institute of Oncology Ljubljana offers genetic counselling and testing t...
De novo familial adenomatous polyposis with germline double heterozygosity of APC/BRCA2: a case report and literature review
De novo familial adenomatous polyposis with germline double heterozygosity of APC/BRCA2: a case report and literature review
The widespread application of colonoscopy screening and genetic testing in colorectal cancer (CRC) treatment has led to th...
Age-specific familial risks in cancer as clues to germline genetic and environmental causes: focus on colorectal, endometrial, prostate, kidney, breast and lung cancers
Age-specific familial risks in cancer as clues to germline genetic and environmental causes: focus on colorectal, endometrial, prostate, kidney, breast and lung cancers
The Swedish Family-Cancer Database (FCD) is the largest source of data on familial cancer in the world, including practica...
Assessing germline TP53 mutations in cancer patients: insights into Li-Fraumeni syndrome and genetic testing guidelines
Assessing germline TP53 mutations in cancer patients: insights into Li-Fraumeni syndrome and genetic testing guidelines
Germline TP53 gene variants are intricately linked to Li-Fraumeni syndrome, a rare and aggressive hereditary cancer syndro...
Clinician perspectives on designing and implementing a hereditary cancer transition clinic
Clinician perspectives on designing and implementing a hereditary cancer transition clinic
Early identification of hereditary cancer predisposition in adolescents and young adults represents a unique opportunity t...
Two independent families with de novo whole APC gene deletion and intellectual disability: a case report
Two independent families with de novo whole APC gene deletion and intellectual disability: a case report
Familial adenomatous polyposis (FAP) is an autosomal dominant colorectal tumour syndrome characterised by the formation of...
BRCA2 germline mutation carrier with five malignancies: a case report
BRCA2 germline mutation carrier with five malignancies: a case report
BRCA2 germline mutations are known to predispose carriers to various cancer types, including breast, ovarian, pancreatic a...
A genome-wide association study in Swedish colorectal cancer patients with gastric- and prostate cancer in relatives
A genome-wide association study in Swedish colorectal cancer patients with gastric- and prostate cancer in relatives
A complex inheritance has been suggested in families with colorectal-, gastric- and prostate cancer. Therefore, we conduct...
Current advances and challenges in Managing Hereditary Diffuse Gastric Cancer (HDGC): a narrative review
Current advances and challenges in Managing Hereditary Diffuse Gastric Cancer (HDGC): a narrative review
More than 25 years ago, CDH1 pathogenic variants (PVs) were identified as the primary cause of hereditary diffuse gastric ...
Blood molybdenum level as a marker of cancer risk on BRCA1 carriers
Blood molybdenum level as a marker of cancer risk on BRCA1 carriers
To investigate whether Molybdenum blood level is a marker of cancer risk on BRCA1 carriers. A prospective cohort study was...
Universal screening of colorectal tumors for lynch syndrome: a survey of patient experiences and opinions
Universal screening of colorectal tumors for lynch syndrome: a survey of patient experiences and opinions
Lynch syndrome represents the most common hereditary cause of both colorectal and endometrial cancer. It is caused by defe...
Adrenal tumours in patients with pathogenic APC mutations: a retrospective study
Adrenal tumours in patients with pathogenic APC mutations: a retrospective study
Adrenal tumours are associated with familial adenomatous polyposis (FAP). In the literature, most studies use the clinical...
Universal testing in endometrial cancer in Sweden
Universal testing in endometrial cancer in Sweden
The aim of the study was to test a universal screening strategy on endometrial cancer to evaluate its effectiveness to fin...
Benefits of osimertinib treat a lung adenocarcinoma patient with germline EGFR T790M, somatic EGFR 19-Del, TP53 and PIK3CA mutations
Benefits of osimertinib treat a lung adenocarcinoma patient with germline EGFR T790M, somatic EGFR 19-Del, TP53 and PIK3CA mutations
Somatic mutations in the EGFR gene occur in about 50% of non-small cell lung cancers, with the T790M mutation significantl...
Gastrointestinal manifestations in patients with gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS): a systematic review with analysis of individual patient data
Gastrointestinal manifestations in patients with gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS): a systematic review with analysis of individual patient data
Gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS) is an autosomal dominant syndrome characterized by fu...
Two Japanese families with familial pancreatic cancer with suspected pathogenic variants of CDKN2A: a case report
Two Japanese families with familial pancreatic cancer with suspected pathogenic variants of CDKN2A: a case report
Germline mutations in CDKN2A result in Familial Atypical Multiple Mole Melanoma Syndrome (FAMMM) (OMIM #155,601), which is...
Modifiable risk factors for cancer among people with lynch syndrome: an international, cross-sectional survey
Modifiable risk factors for cancer among people with lynch syndrome: an international, cross-sectional survey
Lynch syndrome is the most common cause of hereditary colorectal and endometrial cancer. Lifestyle modification may provid...
A second hereditary cancer predisposition syndrome in a patient with lynch syndrome and three primary cancers
A second hereditary cancer predisposition syndrome in a patient with lynch syndrome and three primary cancers
Current National Comprehensive Cancer Network ® (NCCN ®) guidelines for Colorectal Genetic/Familial High-Risk As...
Incidences of colorectal adenomas and cancers under colonoscopy surveillance suggest an accelerated “Big Bang” pathway to CRC in three of the four Lynch syndromes
Incidences of colorectal adenomas and cancers under colonoscopy surveillance suggest an accelerated “Big Bang” pathway to CRC in three of the four Lynch syndromes
Colorectal cancers (CRCs) in the Lynch syndromes have been assumed to emerge through an accelerated adenoma-carcinoma path...
Current prospects of hereditary adrenal tumors: towards better clinical management
Current prospects of hereditary adrenal tumors: towards better clinical management
Adrenocortical carcinoma (ACC) and pheochromocytoma/paraganglioma (PPGL) are two rare types of adrenal gland malignancies....
Preoperative multimodal ultrasonic imaging in a case of Peutz-Jeghers syndrome complicated by atypical lobular endocervical glandular hyperplasia: a case report and literature review
Preoperative multimodal ultrasonic imaging in a case of Peutz-Jeghers syndrome complicated by atypical lobular endocervical glandular hyperplasia: a case report and literature review
Peutz-Jeghers syndrome (PJS), an autosomal dominant multiple cancerous disorder, is clinically characterized by mucocutane...
Primary fallopian tube cancer followed by primary breast cancer in RAD51C mutation carrier treated with niraparib as first line maintenance therapy: a case report
Primary fallopian tube cancer followed by primary breast cancer in RAD51C mutation carrier treated with niraparib as first line maintenance therapy: a case report
Given the rarity of RAD51C mutations, the risk and treatment of metachronous breast cancer after the diagnosis of ovarian ...
Li-Fraumeni syndrome presenting with de novo TP53 mutation, severe phenotype and advanced paternal age: a case report
Li-Fraumeni syndrome presenting with de novo TP53 mutation, severe phenotype and advanced paternal age: a case report
Li-Fraumeni syndrome (LFS) is an autosomal dominant hereditary cancer syndrome caused by pathogenic variants in the gene T...
Experiences of patients and family members with follow-up care, information needs and provider support after identification of Lynch Syndrome
Experiences of patients and family members with follow-up care, information needs and provider support after identification of Lynch Syndrome
Lynch Syndrome is among the most common hereditary cancer syndromes and requires ongoing cancer surveillance, repeated scr...
SMAD4 variants and its genotype–phenotype correlations to juvenile polyposis syndrome
SMAD4 variants and its genotype–phenotype correlations to juvenile polyposis syndrome
Juvenile polyposis syndrome (JPS), a rare autosomal dominant syndrome, affects one per 100 000 births, increasing lifetime...
Choices for cancer prevention for women with a BRCA1 mutation? a personal view
Choices for cancer prevention for women with a BRCA1 mutation? a personal view
With widespread testing for susceptibility genes, increasing numbers of women are being identified to carry a mutation in ...
Progression of duodenal neoplasia to advanced adenoma in patients with familial adenomatous polyposis
Progression of duodenal neoplasia to advanced adenoma in patients with familial adenomatous polyposis
Patients with familial adenomatous polyposis (FAP) have a lifetime risk of developing duodenal adenomas approaching 100%, ...
“Go ahead and screen” - advice to healthcare systems for routine lynch syndrome screening from interviews with newly diagnosed colorectal cancer patients
“Go ahead and screen” - advice to healthcare systems for routine lynch syndrome screening from interviews with newly diagnosed colorectal cancer patients
Lynch syndrome (LS) is the most common cause of inherited colorectal cancer (CRC). Universal tumor screening (UTS) of newl...
Prevalence of BRCA1 and BRCA2 germline variants in an unselected pancreatic cancer patient cohort in Pakistan
Prevalence of BRCA1 and BRCA2 germline variants in an unselected pancreatic cancer patient cohort in Pakistan
BRCA1 and BRCA2 (BRCA1/2) are the most frequently investigated genes among Caucasian pancreatic cancer patients, whereas l...
Simultaneous bilateral mastectomy and RRSO for BRCA2-positive non-invasive breast cancer in Japan: a case report and analysis of initial experience
Simultaneous bilateral mastectomy and RRSO for BRCA2-positive non-invasive breast cancer in Japan: a case report and analysis of initial experience
In Japan, genetic testing, surveillance, and risk-reducing surgery for hereditary breast and ovarian cancer (HBOC) syndrom...
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