| Haplotype analysis detects MLH1 founder variant in Indian Lynch syndrome patient cohort |
|
|
|
|
|
|
✓ |
|
Indian |
| Bilateral familial retinoblastoma diagnosed via optical coherence tomography following a normal funduscopic exam |
|
|
|
|
|
|
|
|
|
| Recurrent paraneoplastic nephrotic syndrome; insights from a Lynch syndrome patient with multiple malignancies |
|
|
|
|
|
|
|
|
|
| Sarcomas arising in MEN1 patients: demonstrating LOH of the MEN1 locus and loss of menin expression |
|
|
|
|
|
|
|
|
|
| A family-based approach to cascade genetic testing in a pediatric cancer genetics clinic |
|
|
|
|
|
|
|
|
|
| Cascade genetic testing in hereditary cancer: exploring the boundaries of the Italian legal framework |
|
|
|
|
|
|
|
|
|
| Hereditary breast and ovarian cancer genetic testing in unselected patients: example of private supplementation of public healthcare service |
|
|
|
|
|
|
|
|
|
| Overlap syndrome of hereditary hemorrhagic telangiectasia and juvenile polyposis syndrome: ten years follow-up-case series and review of literature |
|
|
|
|
|
|
|
|
|
| Germline pathogenic variants in RNF43 in patients with and without serrated polyposis syndrome |
|
|
|
|
|
|
|
|
|
| The genetic landscape of Lynch syndrome in the Israeli population |
|
|
|
|
|
|
|
|
|
| Mainstreaming cancer genetics: feasibility of an advanced nurse practitioner-led service diagnosing Lynch syndrome from colorectal cancer in Ireland |
|
|
|
|
|
|
|
|
|
| Prevalence of cardiometabolic outcomes in women who underwent salpingo-oophorectomy to prevent hereditary breast and ovarian cancer: a meta-analysis |
|
|
|
|
|
|
|
|
|
| BRCAIndica: a resource for ACMG/AMP classified BRCA1 and BRCA2 variants |
|
|
|
|
|
|
|
|
|
| MSH6-proficient crypt foci in MSH6 constitutional mismatch repair deficiency: reversion of a frameshifted coding microsatellite to its wild-type sequence |
|
|
|
|
|
|
|
|
|
| Use and feasibility of a Lynch Syndrome predictive model for inherited colorectal and endometrial cancer in a low-middle income country |
|
|
|
|
|
|
|
|
|
| A content analysis of parents’ reflections on pathogenic and uncertain pediatric oncology germline sequencing results |
|
|
|
|
|
|
|
|
|
| Germline p.R181H variant in TP53 in a family exemplifying the genotype-phenotype correlations in Li-Fraumeni syndrome |
|
|
|
|
|
|
|
|
|
| Endoscopic screening for identification of signet ring cell gastric cancer foci in carriers of germline pathogenic variants in CDH1 |
|
|
|
|
|
|
|
|
|
| Asymptomatic Bloom syndrome diagnosed by chance in a patient with breast cancer |
|
|
|
|
|
|
|
|
|
| A dual biomarker in non-small cell lung cancer that predicts Li Fraumeni syndrome |
|
|
|
|
|
|
|
|
|
| Complications of colonoscopy surveillance of patients with Lynch syndrome – 33 years of follow up |
|
|
|
|
|
|
|
|
|
| Colonoscopic surveillance in Lynch syndrome: guidelines in perspective |
|
|
|
|
|
|
|
|
|
| Endoscopic indicators in patients with familial adenomatous polyposis undergoing duodenal resections – a nationwide Danish cohort study with long-term follow-up |
|
|
|
|
|
|
|
|
|
| Report of the sixth meeting of the European Consortium ‘Care for CMMRD’ (C4CMMRD), Paris, France, November 16th 2022 |
|
|
|
|
|
|
|
|
|
| Correction: Clinician perspectives on policy approaches to genetic risk disclosure in families |
|
|
|
|
|
|
|
|
|
| Digital innovation for cancer risk assessment allows large-scale service redevelopment of regional cancer genetics service delivery |
|
|
|
|
|
|
|
|
|
| Misclassification of a frequent variant from PMS2CL pseudogene as a PMS2 loss of function variant in Brazilian patients |
|
|
|
|
|
|
|
|
|
| Metastatic disease after removal of a renal cell carcinoma smaller than 3 cm in a patient with Birt-Hogg-Dubé syndrome, a case report |
|
|
|
|
|
|
|
|
|
| Risk-reducing salpingectomy with delayed oophorectomy to prevent ovarian cancer in women with an increased inherited risk: insights into an alternative strategy |
|
|
|
|
|
|
|
|
|
| Benign tumors and non-melanoma skin cancers in patients with Fanconi anemia |
|
|
|
|
|
|
|
|
|
| The 17th International Meeting on Psychosocial Aspects of Hereditary Cancer (IMPAHC) |
|
|
|
|
|
|
|
|
|
| In memoriam: Gloria Petersen, PhD (1950-2023) |
|
|
|
|
|
|
|
|
|
| Twenty-five years of surveillance for familial and hereditary pancreatic ductal adenocarcinoma: Historical perspectives and introduction to the special issue |
|
|
|
|
|
|
|
|
|
| Detection of a major Lynch Syndrome-causing MLH1 founder variant in a large-scale genotyped cohort |
|
|
|
|
|
|
✓ |
✓ |
Finnish |
| A retrospective cohort study of genetic referral and diagnosis of Birt-Hogg-Dubé Syndrome in patients with Trichodiscoma and Fibrofolliculoma skin lesions |
|
|
|
|
|
|
|
|
|
| Somatic STK11 mosaicism in a Turkish patient with Peutz-Jeghers syndrome |
|
|
|
|
|
|
|
|
|
| Attitudes toward genetic testing, family planning and preimplantation genetic testing in families with a germline CDKN2A pathogenic variant |
|
|
|
|
|
|
|
|
|
| Optimizing the detection of hereditary predisposition in women with epithelial ovarian cancer: nationwide implementation of the Tumor-First workflow |
|
|
|
|
|
|
|
|
|
| Review of the cost-effectiveness of surveillance for hereditary pancreatic cancer |
|
|
|
|
|
|
|
|
|
| Novel telomerase reverse transcriptase gene mutation in a family with aplastic anaemia |
|
|
|
|
|
|
|
|
|
| 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 |
|
|
|
|
|
|
|
|
|
| A de novo germline pathogenic BRCA1 variant identified following an osteosarcoma pangenomic molecular analysis |
|
|
|
|
|
|
|
|
|
| The Spanish Familial Pancreatic Cancer Registry (PANGENFAM): a decade follow-up of individuals at high-risk for pancreatic cancer |
|
|
|
|
|
|
|
|
|
| Cascade genetic testing: an underutilized pathway to equitable cancer care? |
|
|
|
|
|
|
|
|
|
| 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 |
|
|
|
|
|
|
|
|
|
| Screening for pancreatic cancer in high-risk individuals using MRI: optimization of scan techniques to detect small lesions |
|
|
|
|
|
|
|
|
|
| Expanding access to genetic testing for pancreatic cancer |
|
|
|
|
|
|
|
|
|
| The response of pancreatic acinar cell carcinoma to platinum and olaparib therapy in a germline BRCA2 variant carrier: case report and literature review |
|
|
|
|
|
|
|
|
|
| Familial and hereditary pancreatic cancer in Japan |
|
|
|
|
|
|
|
|
|
| Men with metastatic prostate cancer carrying a pathogenic germline variant in breast cancer genes: disclosure of genetic test results to relatives |
|
|
|
|
|
|
|
|
|
| Impact of hormonal contraception on endometrial histology in patients with Lynch syndrome, a retrospective pilot study |
|
|
|
|
|
|
|
|
|
| A comprehensive characterization of the spectrum of MUTYH germline pathogenic variants in Latin America |
|
|
|
|
|
|
|
|
|
| Strategies for diagnosis and management of CMMRD in low-resource countries: report of a Tunisian family |
|
|
|
|
|
|
|
|
|
| Cascade testing for hereditary cancer in Singapore: how population genomics help guide clinical policy |
|
|
|
|
|
|
|
|
|
| Psychosocial barriers and facilitators for cascade genetic testing in hereditary breast and ovarian cancer: a scoping review |
|
|
|
|
|
|
|
|
|
| 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 role of biomarkers in the early detection of pancreatic cancer |
|
|
|
|
|
|
|
|
|
| Surgical aspects related to hereditary pancreatic cancer |
|
|
|
|
|
|
|
|
|
| Aspects and outcomes of surveillance for individuals at high-risk of pancreatic cancer |
|
|
|
|
|
|
|
|
|
| Clinical features of prostate cancer by polygenic risk score |
|
|
|
|
|
✓ |
|
|
individuals of European ancestry |
| Evaluation of EGFR and COX pathway inhibition in human colon organoids of serrated polyposis and other hereditary cancer syndromes |
|
|
|
|
|
|
|
|
|
| Pilot study of a decision aid on BRCA1/2 genetic testing among Orthodox Jewish women |
|
|
|
|
|
|
|
|
|
| Understanding familial risk of pancreatic ductal adenocarcinoma |
|
|
|
|
|
|
|
|
|
| Genetic and other risk factors for pancreatic ductal adenocarcinoma (PDAC) |
|
|
|
|
|
|
|
|
|
| The role of endoscopic ultrasound in the detection of pancreatic lesions in high-risk individuals |
|
|
|
|
|
|
|
|
|
| Editorial for familial cancer: cascade genetic testing |
|
|
|
|
|
|
|
|
|
| Cascade genetic testing for hereditary cancer syndromes: a review of barriers and breakthroughs |
|
|
|
|
|
|
|
|
|
| Clinician perspectives on policy approaches to genetic risk disclosure in families |
|
|
|
|
|
|
|
|
|
| Challenges and opportunities for Lynch syndrome cascade testing in the United States |
|
|
|
|
|
|
|
|
|
| The Italian registry of families at risk for pancreatic cancer (IRFARPC): implementation and evolution of a national program for pancreatic cancer surveillance in high-risk individuals |
|
|
|
|
|
|
|
|
|
| Progress report: Peutz–Jeghers syndrome |
|
|
|
|
|
|
|
|
|
| In Memoriam: Steffen Bülow (1943–2023) |
|
|
|
|
|
|
|
|
|
| Cascade screening in HBOC and Lynch syndrome: guidelines and procedures in a UK centre |
|
|
|
|
|
|
|
|
|
| Can our experience with surveillance for inherited pancreatic cancer help to identify early pancreatic cancer in the general population? |
|
|
|
|
|
|
|
|
|
| Familial pancreatic cancer: a long fruitful journey |
|
|
|
|
|
|
|
|
|
| CGA-IGC 2023 Abstracts |
|
|
|
|
|
|
|
|
|
| Aberrant transcription caused by an intronic non-canonical CDH1 variant |
|
|
|
|
|
|
|
|
|
| Precursor lesions in familial and hereditary pancreatic cancer |
|
|
|
|
|
|
|
|
|
| Low prevalence of gastric intestinal metaplasia and Helicobacter pylori on surveillance upper endoscopy in Lynch syndrome |
|
|
|
|
|
|
|
|
|
| High amount of fertility reducing tumors and procedures, but no evidence for premature ovarian failure in female Lynch syndrome patients |
|
|
|
|
|
|
|
|
|
| Breast density in NF1 women: a retrospective study |
|
|
|
|
|
|
|
|
|
| Li Fraumeni Syndrome predisposes to gastro-esophageal junction tumours |
|
|
|
|
|
|
|
|
|
| Cascade genetic counseling and testing in hereditary syndromes: inherited cardiovascular disease as a model: a narrative review |
|
|
|
|
|
|
|
|
|