OOIR: Observatory of International Research

Papers

(The TQCC of Familial Cancer is 6. 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 2022-06-01 to 2026-06-01.)

Article	Citations
Laboratory variation in the grading of dysplasia of duodenal adenomas in familial adenomatous polyposis patients	31
Colonoscopy surveillance in Lynch syndrome is burdensome and frequently delayed	23
Cascade genetic testing: an underutilized pathway to equitable cancer care?	22
Prevalence of cardiometabolic outcomes in women who underwent salpingo-oophorectomy to prevent hereditary breast and ovarian cancer: a meta-analysis	21
Hereditary breast and ovarian cancer genetic testing in unselected patients: example of private supplementation of public healthcare service	20
Cascade genetic counseling and testing in hereditary syndromes: inherited cardiovascular disease as a model: a narrative review	18
Hereditary acute myeloid leukemia associated with C-terminal CEBPA germline variants	17
Psychosocial barriers and facilitators for cascade genetic testing in hereditary breast and ovarian cancer: a scoping review	15
Digital innovation for cancer risk assessment allows large-scale service redevelopment of regional cancer genetics service delivery	15
Detection of a major Lynch Syndrome-causing MLH1 founder variant in a large-scale genotyped cohort	14
Clinician perspectives on policy approaches to genetic risk disclosure in families	13
Progress report: Peutz–Jeghers syndrome	12
Misclassification of a frequent variant from PMS2CL pseudogene as a PMS2 loss of function variant in Brazilian patients	12
Overlap syndrome of hereditary hemorrhagic telangiectasia and juvenile polyposis syndrome: ten years follow-up-case series and review of literature	10
The genetic landscape of Lynch syndrome in the Israeli population	10
Correction: Benign tumors and non-melanoma skin cancers in patients with fanconi anemia	9
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	9
Functional and phenotypic consequences of an unusual inversion in MSH2	9
Impact of hormonal contraception on endometrial histology in patients with Lynch syndrome, a retrospective pilot study	9
Haplotype analysis detects MLH1 founder variant in Indian Lynch syndrome patient cohort	9
Hematologic toxicities of chemotherapy in breast and ovarian cancer patients carrying BRCA1/BRCA2 germline pathogenic variants. A single center experience and review of the literature	9
Endoscopic screening for identification of signet ring cell gastric cancer foci in carriers of germline pathogenic variants in CDH1	8
In memoriam: Gloria Petersen, PhD (1950-2023)	8
Mainstreamed genetic testing of breast cancer patients: experience from a single surgeon’s practice in a large US Academic Center	8
Balancing the burden and benefits of colonoscopy in Lynch Syndrome	8

Analysis of uveal melanomas and paired constitutional DNA for exclusion of a BAP1-tumor predisposition syndrome	7
The response of pancreatic acinar cell carcinoma to platinum and olaparib therapy in a germline BRCA2 variant carrier: case report and literature review	7
Hepatocellular carcinoma and solid pseudopapillary neoplasm of the pancreas complicating familial adenomatous polyposis: two cases and review of the literature	7
A case of Rothmund-Thomson syndrome originally thought to be a case of Bloom syndrome	7
PREMM5 distinguishes sporadic from Lynch syndrome-associated MMR-deficient/MSI-high colorectal cancer	7
Risk-reducing salpingectomy with delayed oophorectomy to prevent ovarian cancer in women with an increased inherited risk: insights into an alternative strategy	7
Optimizing the detection of hereditary predisposition in women with epithelial ovarian cancer: nationwide implementation of the Tumor-First workflow	6
Benign tumors and non-melanoma skin cancers in patients with Fanconi anemia	6
Mainstreaming cancer genetics: feasibility of an advanced nurse practitioner-led service diagnosing Lynch syndrome from colorectal cancer in Ireland	6
Cascade genetic testing for hereditary cancer syndromes: a review of barriers and breakthroughs	6
Aberrant transcription caused by an intronic non-canonical CDH1 variant	6
A large family with MSH3-related polyposis	6
Cascade testing for hereditary cancer in Singapore: how population genomics help guide clinical policy	6
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	6
Universal tumor screening for lynch syndrome on colorectal cancer biopsies impacts surgical treatment decisions	6
Addressing uncertainty in hereditary colorectal cancer: the role of a regional expert multidisciplinary team meeting	6
Prevalence and risk factors of barrett’s esophagus in lynch syndrome	6
Whole genome sequencing and disease pattern in patients with juvenile polyposis syndrome: a nationwide study	6