| Infantile fibrosarcoma with TPM3-NTRK1 fusion in a boy with Bloom syndrome |
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| Early-onset malignant phyllodes breast tumor in a patient with germline pathogenic variants in NF1 and BRCA1 genes |
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| Efficacy of paired tumor and germline testing in evaluation of patients with Lynch-like syndrome in a large integrated healthcare setting |
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| Age at diagnosis of cancer in 185delAG BRCA1 mutation carriers of diverse ethnicities: tentative evidence for modifier factors |
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| Identification and management of Lynch syndrome in the Middle East and North African countries: outcome of a survey in 12 countries |
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| A novel germline variant in RET gene resulting in an additional cysteine in a family with familial medullary thyroid carcinoma |
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| Frequency and spectrum of mutations across 94 cancer predisposition genes in African American women with invasive breast cancer |
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| The role of TP53 pathogenic variants in early-onset HER2-positive breast cancer |
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| Discordant DNA mismatch repair protein status between synchronous or metachronous gastrointestinal carcinomas: frequency, patterns, and molecular etiologies |
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| FRAMe: Familial Risk Assessment of Melanoma—a risk prediction tool to guide CDKN2A germline mutation testing in Australian familial melanoma |
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| New surveillance guidelines for Li-Fraumeni and hereditary TP53 related cancer syndrome: implications for germline TP53 testing in breast cancer |
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| Patient reported experiences following laparoscopic prophylactic bilateral salpingo-oophorectomy or salpingectomy in an ambulatory care hospital |
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| Quantitative evaluation of MSI testing using NGS detects the imperceptible microsatellite changed caused by MSH6 deficiency |
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| Prevalence of pancreaticobiliary cancers in Irish families with pathogenic BRCA1 and BRCA2 variants |
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| Worldwide variation in lynch syndrome screening: case for universal screening in low colorectal cancer prevalence areas |
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| Genetic testing and surveillance in infantile myofibromatosis: a report from the SIOPE Host Genome Working Group |
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| Clinical phenotypes combined with saturation genome editing identifying the pathogenicity of BRCA1 variants of uncertain significance in breast cancer |
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| Letter to the Editor-Recent advances in Lynch syndrome |
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| Is a colorectal neoplasm diagnosis a trigger to change dietary and other lifestyle habits for persons with Lynch syndrome? A prospective cohort study |
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| Barriers and facilitators to CDH1 carriers contemplating or undergoing prophylactic total gastrectomy |
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| Characterizing germline APC and MUTYH variants in Ashkenazi Jews compared to other individuals |
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Ashkenazi Jews |
| Letter to the Editor-Recent advances in Lynch syndrome: response to Møller et al. |
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| Multiple primary cancers (renal papillary, lymphoma and teratoma) and hepatic cysts in association with a pathogenic germline mutation in the MET gene |
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| Complete response of hereditary leiomyomatosis and renal cell cancer (HLRCC)-associated renal cell carcinoma to nivolumab and ipilimumab combination immunotherapy by: a case report |
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| Report of the fifth meeting of the European Consortium 'Care for CMMRD' (C4CMMRD), Leiden, The Netherlands, July 6th 2019 |
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| Improving primary care identification of familial breast cancer risk using proactive invitation and decision support |
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| Prospective observational data informs understanding and future management of Lynch syndrome: insights from the Prospective Lynch Syndrome Database (PLSD) |
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| Chemoprevention in familial adenomatous polyposis: past, present and future |
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| Two cases of somatic STK11 mosaicism in Danish patients with Peutz–Jeghers syndrome |
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| Germline variants discovered in lymphoma patients undergoing tumor profiling: a case series |
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| Constitutional mosaicism for a BRCA2 mutation as a cause of early-onset breast cancer |
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| Small fraction of testicular cancer cases may be causatively related to CHEK2 inactivating germ-line mutations: evidence for somatic loss of the remaining CHEK2 allele in the tumor tissue |
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| Low accuracy of self-reported family history of melanoma in high-risk patients |
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| Women’s responses and understanding of polygenic breast cancer risk information |
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| Biallelic NF1 inactivation in high grade serous ovarian cancers from patients with neurofibromatosis type 1 |
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| Evaluation of implementation of risk management guidelines for carriers of pathogenic variants in mismatch repair genes: a nationwide audit of familial cancer clinics |
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| MLH1 intronic variants mapping to + 5 position of splice donor sites lead to deleterious effects on RNA splicing |
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| Characterization of a germline splice site variant MLH1 c.678-3T>A in a Lynch syndrome family |
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| Cumulative risk of skin cancer in patients with Li-Fraumeni syndrome |
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| Systematic development of a training program for healthcare professionals to improve communication about breast cancer genetic counseling with low health literate patients |
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migrant background; migrant |
| Primary fallopian tube carcinoma (PFTC) in a BRIP-1 mutation carrier: the first case report |
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| Highly aggressive thoracic desmoid tumors in adolescent siblings with fatal outcomes in an FAP kindred: a need for increased vigilance and intervention in at-risk AYAs |
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| Waiting and “weighted down”: the challenge of anticipatory loss for individuals and families with Li-Fraumeni Syndrome |
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| Genetic health professionals’ experiences with initiating reanalysis of genomic sequence data |
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| Analysis of 3297 individuals suggests that the pathogenic germline 5′-UTR variant BRCA1 c.-107A > T is not common in south-east Germany |
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| De novo SDHB gene mutation in a family with extra-adrenal paraganglioma |
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| Collaborative Group of the Americas on Inherited Gastrointestinal Cancer Position statement on multigene panel testing for patients with colorectal cancer and/or polyposis |
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| Lack of evidence for CDK12 as an ovarian cancer predisposing gene |
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| Patient-reported burden of intensified surveillance and surgery in high-risk individuals under pancreatic cancer surveillance |
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| Perceptions of risk and reward in BRCA1 and BRCA2 mutation carriers choosing salpingectomy for ovarian cancer prevention |
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| Increased prevalence of Barrett’s esophagus in patients with MUTYH-associated polyposis (MAP) |
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| Do the risks of Lynch syndrome-related cancers depend on the parent of origin of the mutation? |
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| Mismatch repair gene pathogenic germline variants in a population-based cohort of breast cancer |
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| Co-occurrence of multiple endocrine neoplasia type 4 and spinal neurofibromatosis: a case report |
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| Novel intronic variant in PALB2 gene and effective prevention of Fanconi anemia in family |
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| Missense PALB2 germline variant disrupts nuclear localization of PALB2 in a patient with breast cancer |
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| Abstracts of the 4th meeting of the European Hereditary Tumour Group, Barcelona, Spain, October 17–19th, 2019 |
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| Prevalence of CNV-neutral structural genomic rearrangements in MLH1, MSH2, and PMS2 not detectable in routine NGS diagnostics |
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| Mainstreamed genetic testing of breast cancer patients in two hospitals in South Eastern Norway |
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| Factors associated with decision-making on prophylactic hysterectomy and attitudes towards gynecological surveillance among women with Lynch syndrome (LS): a descriptive study |
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| Detection of DNA mismatch repair deficient crypts in random colonoscopic biopsies identifies Lynch syndrome patients |
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| Neurofibromatosis type 2 discordance in monozygous twins |
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