OOIR: Observatory of International Research

Papers

(The TQCC of Familial Cancer is 4. 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 2021-08-01 to 2025-08-01.)

Article	Citations
Outcomes of retesting in patients with previously uninformative cancer genetics evaluations	23
Colonoscopy surveillance in Lynch syndrome is burdensome and frequently delayed	22
Laboratory variation in the grading of dysplasia of duodenal adenomas in familial adenomatous polyposis patients	17
Cascade genetic testing: an underutilized pathway to equitable cancer care?	15
Collaborative Group of the Americas on Inherited Gastrointestinal Cancers (CGA-IGC) Annual Virtual Meeting, November 13–15, 2021	14
Prevalence of cardiometabolic outcomes in women who underwent salpingo-oophorectomy to prevent hereditary breast and ovarian cancer: a meta-analysis	14
Hereditary breast and ovarian cancer genetic testing in unselected patients: example of private supplementation of public healthcare service	13
Hereditary acute myeloid leukemia associated with C-terminal CEBPA germline variants	12
Cascade genetic counseling and testing in hereditary syndromes: inherited cardiovascular disease as a model: a narrative review	11
Psychosocial barriers and facilitators for cascade genetic testing in hereditary breast and ovarian cancer: a scoping review	10
Digital innovation for cancer risk assessment allows large-scale service redevelopment of regional cancer genetics service delivery	10
Long-term chemoprevention in patients with adenomatous polyposis coli: an observational study	9
Detection of a major Lynch Syndrome-causing MLH1 founder variant in a large-scale genotyped cohort	8
Monoallelic MUTYH pathogenic variants ascertained via multi-gene hereditary cancer panels are not associated with colorectal, endometrial, or breast cancer	7
Progress report: Peutz–Jeghers syndrome	7
Identification of women at risk of hereditary breast–ovarian cancer among participants in a population-based breast cancer screening	7
Misclassification of a frequent variant from PMS2CL pseudogene as a PMS2 loss of function variant in Brazilian patients	7
Clinician perspectives on policy approaches to genetic risk disclosure in families	7
Haplotype analysis detects MLH1 founder variant in Indian Lynch syndrome patient cohort	6
Functional and phenotypic consequences of an unusual inversion in MSH2	6
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	6
The genetic landscape of Lynch syndrome in the Israeli population	6
Impact of hormonal contraception on endometrial histology in patients with Lynch syndrome, a retrospective pilot study	6
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	6
Overlap syndrome of hereditary hemorrhagic telangiectasia and juvenile polyposis syndrome: ten years follow-up-case series and review of literature	6

Uterine leiomyomatosis in adolescents and young adults (AYAs) may represent a narrow phenotypic variant of FH tumour predisposition syndrome	6
Correction: Benign tumors and non-melanoma skin cancers in patients with fanconi anemia	6
Correction to: Outcomes of retesting in patients with previously uninformative cancer genetics evaluations	6
Balancing the burden and benefits of colonoscopy in Lynch Syndrome	5
In memoriam: Gloria Petersen, PhD (1950-2023)	5
Analysis of uveal melanomas and paired constitutional DNA for exclusion of a BAP1-tumor predisposition syndrome	5
PREMM5 distinguishes sporadic from Lynch syndrome-associated MMR-deficient/MSI-high colorectal cancer	5
Prevalence and risk factors of barrett’s esophagus in lynch syndrome	5
Mainstreamed genetic testing of breast cancer patients: experience from a single surgeon’s practice in a large US Academic Center	5
The response of pancreatic acinar cell carcinoma to platinum and olaparib therapy in a germline BRCA2 variant carrier: case report and literature review	5
Endoscopic screening for identification of signet ring cell gastric cancer foci in carriers of germline pathogenic variants in CDH1	5
Colectomy and desmoid tumours in familial adenomatous polyposis: a systematic review and meta-analysis	5
Cascade testing for hereditary cancer in Singapore: how population genomics help guide clinical policy	5
A case of Rothmund-Thomson syndrome originally thought to be a case of Bloom syndrome	5
Risk-reducing salpingectomy with delayed oophorectomy to prevent ovarian cancer in women with an increased inherited risk: insights into an alternative strategy	5
Hepatocellular carcinoma and solid pseudopapillary neoplasm of the pancreas complicating familial adenomatous polyposis: two cases and review of the literature	5
Cascade genetic testing for hereditary cancer syndromes: a review of barriers and breakthroughs	5
Universal tumor screening for lynch syndrome on colorectal cancer biopsies impacts surgical treatment decisions	4
Benign tumors and non-melanoma skin cancers in patients with Fanconi anemia	4
Aberrant transcription caused by an intronic non-canonical CDH1 variant	4
Addressing uncertainty in hereditary colorectal cancer: the role of a regional expert multidisciplinary team meeting	4
Whole genome sequencing and disease pattern in patients with juvenile polyposis syndrome: a nationwide study	4
Mainstreaming cancer genetics: feasibility of an advanced nurse practitioner-led service diagnosing Lynch syndrome from colorectal cancer in Ireland	4