Familial Cancer - 2022

40 articles | Last updated: 2025-12-03 14:12:56

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Two unique BAP1 pathogenic variants identified in the same family by panel cascade testing
A PMS2 non-canonical splicing site variant leads to aberrant splicing in a patient suspected for lynch syndrome
A retrospective cohort study of genetic referral and diagnosis of Lynch syndrome in patients with cutaneous sebaceous lesions
Characterization of sebaceous and non-sebaceous cutaneous manifestations in patients with lynch syndrome: a systematic review
Laboratory variation in the grading of dysplasia of duodenal adenomas in familial adenomatous polyposis patients
Next-generation universal hereditary cancer screening: implementation of an automated hereditary cancer screening program for patients with advanced cancer undergoing tumor sequencing in a large HMO
InSiGHT 2022 Abstract Publishing and Best Abstract Awards
A need to tailor surveillance based on family history: describing a highly penetrant familial paraganglioma kindred with an SDHD pathogenic variant
Barriers to completion of cascade genetic testing: how can we improve the uptake of testing for hereditary breast and ovarian cancer syndrome?
Determinants of adherence to recommendations on physical activity, red and processed meat intake, and body weight among lynch syndrome patients
Identifying the BRCA1 c.-107A > T variant in Dutch patients with a tumor BRCA1 promoter hypermethylation
A pilot study investigating feasibility of mainstreaming germline BRCA1 and BRCA2 testing in high-risk patients with breast and/or ovarian cancer in three tertiary Cancer Centres in Ireland
Disclosure of genetic risk to dating partners among young adults with von Hippel-Lindau disease
Endoscopic management of familial adenomatous polyposis targeting colorectal lesions greater than 5 mm in size: a single-center retrospective study
Analysis of uveal melanomas and paired constitutional DNA for exclusion of a BAP1-tumor predisposition syndrome
CDH1 mutations recurrence and global clustering in genetically tested families with hereditary diffuse gastric cancer syndrome: results from a systematic study
Hepatocellular carcinoma and solid pseudopapillary neoplasm of the pancreas complicating familial adenomatous polyposis: two cases and review of the literature
Remote vs in-person BRCA1/2 non-carriers test disclosure: patients’ choice during Covid-19 pandemic restriction
Molecular characterization of an embryonal rhabdomyosarcoma occurring in a patient with Kabuki syndrome: report and literature review in the light of tumor predisposition syndromes
Prevalence of FANCM germline variants in BRCA1/2 negative breast and/or ovarian cancer patients from Pakistan
A case of Rothmund-Thomson syndrome originally thought to be a case of Bloom syndrome
Universal tumor screening for lynch syndrome on colorectal cancer biopsies impacts surgical treatment decisions
Potential risks associated with the use of ionizing radiation for imaging and treatment of colorectal cancer in Lynch syndrome patients
Mainstreaming germline genetic testing for patients with pancreatic cancer increases uptake
A large family with MSH3-related polyposis
Prevalence and risk factors of barrett’s esophagus in lynch syndrome
Founder vs. non-founder BRCA1/2 pathogenic alleles: the analysis of Belarusian breast and ovarian cancer patients and review of other studies on ethnically homogenous populations
Truncating TINF2 p.Tyr312Ter variant and inherited breast cancer susceptibility							✓	✓	Northern Finnish; Finnish population controls
Long-term chemoprevention in patients with adenomatous polyposis coli: an observational study
Healthcare professionals’ perspectives on implementation of universal tumor DNA testing in ovarian cancer patients: multidisciplinary focus groups
Preimplantation genetic testing in patients with genetic susceptibility to cancer
Collaborative Group of the Americas on Inherited Gastrointestinal Cancers (CGA-IGC) Annual Virtual Meeting, November 13–15, 2021
Intestinal and extraintestinal neoplasms in patients with NTHL1 tumor syndrome: a systematic review
Recurring pathogenic variants in the BRCA2 gene in the Ethiopian Jewish population. Founder mutations?
Juvenile polyposis diagnosed with an integrated histological, immunohistochemical and molecular approach identifying new SMAD4 pathogenic variants
Physicians’ experience, practice and education, on genetic testing and genetic counseling: a nationwide survey study in Greece
Colectomy and desmoid tumours in familial adenomatous polyposis: a systematic review and meta-analysis
Detecting inversions in routine molecular diagnosis in MMR genes
Monoallelic MUTYH pathogenic variants ascertained via multi-gene hereditary cancer panels are not associated with colorectal, endometrial, or breast cancer
BRCA1 Norway: comparison of classification for BRCA1 germline variants detected in families with suspected hereditary breast and ovarian cancer between different laboratories