Familial Cancer

Familial Cancer

家族性癌症

  • 4区 中科院分区
  • Q3 JCR分区

高引用文章

文章名称 引用次数
The uptake of presymptomatic genetic testing in hereditary breast-ovarian cancer and Lynch syndrome: a systematic review of the literature and implications for clinical practice 15
Physician interpretation of variants of uncertain significance 14
Hereditary gastric cancer: what's new? Update 2013-2018 11
Recent advances in Lynch syndrome 10
Whole body magnetic resonance imaging (WB-MRI) and brain MRI baseline surveillance in TP53 germline mutation carriers: experience from the Li-Fraumeni Syndrome Education and Early Detection (LEAD) clinic 10
Germline CDH1 mutations are a significant contributor to the high frequency of early-onset diffuse gastric cancer cases in New Zealand Mori 9
Moving into the mainstream: healthcare professionals' views of implementing treatment focussed genetic testing in breast cancer care 8
Inequities in multi-gene hereditary cancer testing: lower diagnostic yield and higher VUS rate in individuals who identify as Hispanic, African or Asian and Pacific Islander as compared to European 8
Association between miR-146a rs2910164 polymorphism and specific cancer susceptibility: an updated meta-analysis 8
An exploration of genotype-phenotype link between Peutz-Jeghers syndrome and STK11: a review 7
Mutations in context: implications of BRCA testing in diverse populations 7
Implication of DNA repair genes in Lynch-like syndrome 6
Multi-gene panel testing confirms phenotypic variability in MUTYH-Associated Polyposis 6
Clinical interpretation of pathogenic ATM and CHEK2 variants on multigene panel tests: navigating moderate risk 6
p53 signaling pathway polymorphisms, cancer risk and tumor phenotype in TP53 R337H mutation carriers 6
Ability of known susceptibility SNPs to predict colorectal cancer risk for persons with and without a family history 6
Germline mutation p.N363K in POLE is associated with an increased risk of colorectal cancer and giant cell glioblastoma 5
Phenotypic and genotypic heterogeneity of Lynch syndrome: a complex diagnostic challenge 5
TP53 germline mutation testing in early-onset breast cancer: findings from a nationwide cohort 5
Pancreatic neuroendocrine tumor in a patient with a TSC1 variant: case report and review of the literature 5
Metachronous colorectal cancer following segmental or extended colectomy in Lynch syndrome: a systematic review and meta-analysis 5
A retrospective review of 48 individuals, including 12 families, molecularly diagnosed with hereditary leiomyomatosis and renal cell cancer (HLRCC) 4
Heightened perception of breast cancer risk in young women at risk of familial breast cancer 4
Cleft lip/palate and hereditary diffuse gastric cancer: report of a family harboring a CDH1 c.687+1G > A germline mutation and review of the literature 4
Somatic mutations of the coding microsatellites within the beta-2-microglobulin gene in mismatch repair-deficient colorectal cancers and adenomas 4
How do clinical genetics consent forms address the familial approach to confidentiality and incidental findings? A mixed-methods study 4
The spectrum of genetic variants in hereditary pancreatic cancer includes Fanconi anemia genes 4
The development of an online decision aid to support persons having a genetic predisposition to cancer and their partners during reproductive decision-making: a usability and pilot study 4
Hereditary diffuse gastric cancer: cancer risk and the personal cost of preventive surgery 4
The incidence of consecutive manifestations in Von Hippel-Lindau disease 3
Cancer patients' intentions towards receiving unsolicited genetic information obtained using next-generation sequencing 3
Issues related to family history of cancer at the end of life: a palliative care providers' survey 3
A comparison of cosegregation analysis methods for the clinical setting 3
Mutational analysis of the RB1 gene and the inheritance patterns of retinoblastoma in Jordan 3
Outcome of thyroid ultrasound screening in FAP patients with a normal baseline exam 3
Unsolicited information letters to increase awareness of Lynch syndrome and familial colorectal cancer: reactions and attitudes 3
Reminders of cancer risk and pain catastrophizing: relationships with cancer worry and perceived risk in women with a first-degree relative with breast cancer 3
Contiguous gene deletion of chromosome 2p16.3-p21 as a cause of Lynch syndrome 3
Genetic counselling of young women with breast cancer for Li-Fraumeni syndrome: a nationwide survey on the experiences and attitudes of genetics professionals 3
A multi-gene panel study in hereditary breast and ovarian cancer in Colombia 3
Development and pilot testing of a leaflet informing women with breast cancer about genomic testing for polygenic risk 3
Risk management adherence following genetic testing for hereditary cancer syndromes: a Singaporean experience 2
RNF43 is mutated less frequently in Lynch Syndrome compared with sporadic microsatellite unstable colorectal cancers 2
Phenotypic confirmation of oligodontia, colorectal polyposis and cancer in a family carrying an exon 7 nonsense variant in the AXIN2 gene 2
Genetic counseling referral for ovarian cancer patients: a call to action 2
Pediatric craniopharyngioma in association with familial adenomatous polyposis 2
Quality of life following prophylactic gynecological surgery: experiences of female Lynch mutation carriers 2
APC mosaicism in a young woman with desmoid type fibromatosis and familial adenomatous polyposis 2
Referral frequency, attrition rate, and outcomes of germline testing in patients with pancreatic adenocarcinoma 2
Potentially pathogenic germline CHEK2 c.319+2T > A among multiple early-onset cancer families 2