OOIR: Observatory of International Research

Papers

(The TQCC of Familial Cancer is 3. The table below lists those papers that are above that threshold based on CrossRef citation counts [max. 250 papers]. The publications cover those that have been published in the past four years, i.e., from 2021-02-01 to 2025-02-01.)

Article	Citations
In deep bioinformatic characterization of a novel fumarate hydratase variant FH c.199T > G; (p.Tyr67Asp) in hereditary leiomyomatosis and renal cell carcinoma	35
Ninth International Symposium on Hereditary Breast and Ovarian Cancer	30
Age of diagnosis in familial Barrett’s associated neoplasia	25
Outcomes of retesting in patients with previously uninformative cancer genetics evaluations	22
Mainstreaming germline genetic testing for patients with pancreatic cancer increases uptake	18
Proportion of children with cancer that have an indication for genetic counseling and testing based on the cancer type irrespective of other features	16
Mainstreamed genetic testing of breast cancer patients: experience from a single surgeon’s practice in a large US Academic Center	16
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	13
2022 CGA-IGC Annual Meeting: The collaborative group of the Americas on Inherited Gastrointestinal Cancer November 11–13, 2022	11
In memoriam Professor Thierry Frébourg	11
Germline p.R181H variant in TP53 in a family exemplifying the genotype-phenotype correlations in Li-Fraumeni syndrome	11
A patient with very early onset FH-deficient renal cell carcinoma diagnosed at age seven	11
Screening for pancreatic cancer in high-risk individuals using MRI: optimization of scan techniques to detect small lesions	11
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	11
Endoscopic indicators in patients with familial adenomatous polyposis undergoing duodenal resections – a nationwide Danish cohort study with long-term follow-up	10
Endoscopic screening for identification of signet ring cell gastric cancer foci in carriers of germline pathogenic variants in CDH1	10
Barriers to completion of cascade genetic testing: how can we improve the uptake of testing for hereditary breast and ovarian cancer syndrome?	10
Re-evaluating cancer risks associated with the CHEK2 p.Ser428Phe Ashkenazi Jewish founder pathogenic variant	9
Balancing the burden and benefits of colonoscopy in Lynch Syndrome	9
Aspects and outcomes of surveillance for individuals at high-risk of pancreatic cancer	8
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	8
Identifying the BRCA1 c.-107A > T variant in Dutch patients with a tumor BRCA1 promoter hypermethylation	8
Recurring pathogenic variants in the BRCA2 gene in the Ethiopian Jewish population. Founder mutations?	8
Current recommendations for clinical surveillance and genetic testing in rhabdoid tumor predisposition: a report from the SIOPE Host Genome Working Group	6
Physicians’ experience, practice and education, on genetic testing and genetic counseling: a nationwide survey study in Greece	6

Inherited BRCA1 and RNF43 pathogenic variants in a familial colorectal cancer type X family	6
Clinical value of a screening tool for tumor predisposition syndromes in childhood cancer patients (TuPS): a prospective, observational, multi-center study	6
PTCH2 is not a strong candidate gene for gorlin syndrome predisposition	5
Willingness of individuals with Li-Fraumeni syndrome to participate in a cancer prevention trial: a survey study	5
Constitutional 2p16.3 deletion including MSH6 and FBXO11 in a boy with developmental delay and diffuse large B-cell lymphoma	5
CGA-IGC 2023 Abstracts	5
Correction: Clinician perspectives on policy approaches to genetic risk disclosure in families	5
Thirty-year compliance with a surveillance program for patients with familial adenomatous polyposis	5
Fibroadenoma in vulval ectopic breast tissue in a patient with PTEN Hamartoma Tumour Syndrome	5
A case of Rothmund-Thomson syndrome originally thought to be a case of Bloom syndrome	5
Correction to: Letter to the Editor—Recent advances in Lynch syndrome	5
Clinical and imaging modality factors impacting radiological interpretation of breast screening in young women with neurofibromatosis type 1	5
The paradigm of hematological malignant versus non-malignant manifestations, driven by primary immunodeficiencies: a complex interplay	5
A de novo pathogenic variant in the MSH6 gene in a 52 years-old woman	5
Truncating TINF2 p.Tyr312Ter variant and inherited breast cancer susceptibility	4
Prevalence of cardiometabolic outcomes in women who underwent salpingo-oophorectomy to prevent hereditary breast and ovarian cancer: a meta-analysis	4
Healthcare professionals’ perspectives on implementation of universal tumor DNA testing in ovarian cancer patients: multidisciplinary focus groups	4
Challenges and opportunities for Lynch syndrome cascade testing in the United States	4
Von Hippel-Lindau disease and rapidly progressing pheochromocytomas in siblings	4
Detecting inversions in routine molecular diagnosis in MMR genes	3
Li Fraumeni Syndrome predisposes to gastro-esophageal junction tumours	3
Preimplantation genetic testing in patients with genetic susceptibility to cancer	3
Colonoscopy surveillance in Lynch syndrome is burdensome and frequently delayed	3
Novel MAPK/AKT-impairing germline NRAS variant identified in a melanoma-prone family	3
Laboratory variation in the grading of dysplasia of duodenal adenomas in familial adenomatous polyposis patients	3
Men with metastatic prostate cancer carrying a pathogenic germline variant in breast cancer genes: disclosure of genetic test results to relatives	3
The response of pancreatic acinar cell carcinoma to platinum and olaparib therapy in a germline BRCA2 variant carrier: case report and literature review	3
Expanding access to genetic testing for pancreatic cancer	3
Review of the cost-effectiveness of surveillance for hereditary pancreatic cancer	3
Utility of interim blood tests for cancer screening in Li-Fraumeni syndrome	3
In memoriam: Gloria Petersen, PhD (1950-2023)	3
Juvenile polyposis diagnosed with an integrated histological, immunohistochemical and molecular approach identifying new SMAD4 pathogenic variants	3
The psychological impact and experience of breast cancer screening in young women with an increased risk of breast cancer due to neurofibromatosis type 1	3