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 2022-08-01 to 2026-08-01.)

Article	Citations
Laboratory variation in the grading of dysplasia of duodenal adenomas in familial adenomatous polyposis patients	25
Prevalence of cardiometabolic outcomes in women who underwent salpingo-oophorectomy to prevent hereditary breast and ovarian cancer: a meta-analysis	25
Cascade genetic testing: an underutilized pathway to equitable cancer care?	24
Colonoscopy surveillance in Lynch syndrome is burdensome and frequently delayed	23
Hereditary breast and ovarian cancer genetic testing in unselected patients: example of private supplementation of public healthcare service	19
Detection of a major Lynch Syndrome-causing MLH1 founder variant in a large-scale genotyped cohort	18
Hereditary acute myeloid leukemia associated with C-terminal CEBPA germline variants	17
Digital innovation for cancer risk assessment allows large-scale service redevelopment of regional cancer genetics service delivery	16
Psychosocial barriers and facilitators for cascade genetic testing in hereditary breast and ovarian cancer: a scoping review	13
Cascade genetic counseling and testing in hereditary syndromes: inherited cardiovascular disease as a model: a narrative review	13
Clinician perspectives on policy approaches to genetic risk disclosure in families	11
Haplotype analysis detects MLH1 founder variant in Indian Lynch syndrome patient cohort	11
The genetic landscape of Lynch syndrome in the Israeli population	10
Overlap syndrome of hereditary hemorrhagic telangiectasia and juvenile polyposis syndrome: ten years follow-up-case series and review of literature	10
Progress report: Peutz–Jeghers syndrome	10
Misclassification of a frequent variant from PMS2CL pseudogene as a PMS2 loss of function variant in Brazilian patients	10
Balancing the burden and benefits of colonoscopy in Lynch Syndrome	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
Functional and phenotypic consequences of an unusual inversion in MSH2	9
Mainstreamed genetic testing of breast cancer patients: experience from a single surgeon’s practice in a large US Academic Center	9
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
Impact of hormonal contraception on endometrial histology in patients with Lynch syndrome, a retrospective pilot study	9
In memoriam: Gloria Petersen, PhD (1950-2023)	8
Endoscopic screening for identification of signet ring cell gastric cancer foci in carriers of germline pathogenic variants in CDH1	8

The response of pancreatic acinar cell carcinoma to platinum and olaparib therapy in a germline BRCA2 variant carrier: case report and literature review	8
Analysis of uveal melanomas and paired constitutional DNA for exclusion of a BAP1-tumor predisposition syndrome	7
Cascade testing for hereditary cancer in Singapore: how population genomics help guide clinical policy	7
Addressing uncertainty in hereditary colorectal cancer: the role of a regional expert multidisciplinary team meeting	7
PREMM5 distinguishes sporadic from Lynch syndrome-associated MMR-deficient/MSI-high colorectal cancer	7
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	7
Aberrant transcription caused by an intronic non-canonical CDH1 variant	7
Cascade genetic testing for hereditary cancer syndromes: a review of barriers and breakthroughs	7
Risk-reducing salpingectomy with delayed oophorectomy to prevent ovarian cancer in women with an increased inherited risk: insights into an alternative strategy	7
Whole genome sequencing and disease pattern in patients with juvenile polyposis syndrome: a nationwide study	7
Mainstreaming cancer genetics: feasibility of an advanced nurse practitioner-led service diagnosing Lynch syndrome from colorectal cancer in Ireland	6
Heritable methylation marks associated with prostate cancer risk	6
The role of endoscopic ultrasound in the detection of pancreatic lesions in high-risk individuals	6
Optimizing the detection of hereditary predisposition in women with epithelial ovarian cancer: nationwide implementation of the Tumor-First workflow	6
In Memoriam: Steffen Bülow (1943–2023)	6
Evaluation of EGFR and COX pathway inhibition in human colon organoids of serrated polyposis and other hereditary cancer syndromes	6
Attitudes toward genetic testing, family planning and preimplantation genetic testing in families with a germline CDKN2A pathogenic variant	6
Benign tumors and non-melanoma skin cancers in patients with Fanconi anemia	6
Cascade screening in HBOC and Lynch syndrome: guidelines and procedures in a UK centre	6
Report of the sixth meeting of the European Consortium ‘Care for CMMRD’ (C4CMMRD), Paris, France, November 16th 2022	6