OOIR: Observatory of International Research

Papers

(The median citation count 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 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
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
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
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
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
Endoscopic screening for identification of signet ring cell gastric cancer foci in carriers of germline pathogenic variants in CDH1	8

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
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
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
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
In Memoriam: Steffen Bülow (1943–2023)	5
Evaluation of EGFR and COX pathway inhibition in human colon organoids of serrated polyposis and other hereditary cancer syndromes	5
Germline whole genome sequencing in adults with multiple primary tumors	5
Clinical and genetic characteristics of carriers of the TP53 c.541C > T, p.Arg181Cys pathogenic variant causing hereditary cancer in patients of Arab-Muslim descent	5
Heritable methylation marks associated with prostate cancer risk	5
Report of the sixth meeting of the European Consortium ‘Care for CMMRD’ (C4CMMRD), Paris, France, November 16th 2022	5
Familial pancreatic cancer: a long fruitful journey	5
Attitudes toward genetic testing, family planning and preimplantation genetic testing in families with a germline CDKN2A pathogenic variant	5
Cascade screening in HBOC and Lynch syndrome: guidelines and procedures in a UK centre	5
The role of endoscopic ultrasound in the detection of pancreatic lesions in high-risk individuals	5
The 17th International Meeting on Psychosocial Aspects of Hereditary Cancer (IMPAHC)	5
Aspects and outcomes of surveillance for individuals at high-risk of pancreatic cancer	4
Mainstreaming germline genetic testing for patients with pancreatic cancer increases uptake	4
Thirty-year compliance with a surveillance program for patients with familial adenomatous polyposis	4
Inherited BRCA1 and RNF43 pathogenic variants in a familial colorectal cancer type X family	4
Willingness of individuals with Li-Fraumeni syndrome to participate in a cancer prevention trial: a survey study	4
Endoscopic indicators in patients with familial adenomatous polyposis undergoing duodenal resections – a nationwide Danish cohort study with long-term follow-up	4
In deep bioinformatic characterization of a novel fumarate hydratase variant FH c.199T > G; (p.Tyr67Asp) in hereditary leiomyomatosis and renal cell carcinoma	4
Review of the cost-effectiveness of surveillance for hereditary pancreatic cancer	4
Molecular characterization of an embryonal rhabdomyosarcoma occurring in a patient with Kabuki syndrome: report and literature review in the light of tumor predisposition syndromes	3
Pilot study of a decision aid on BRCA1/2 genetic testing among Orthodox Jewish women	3
New RPS20 gene variant in colorectal cancer diagnosis: insight from a large series of patients	3
A family-based approach to cascade genetic testing in a pediatric cancer genetics clinic	3
2022 CGA-IGC Annual Meeting: The collaborative group of the Americas on Inherited Gastrointestinal Cancer November 11–13, 2022	3
Characteristics of familial pancreatic cancer families with additional colorectal carcinoma	3
A PMS2 non-canonical splicing site variant leads to aberrant splicing in a patient suspected for lynch syndrome	3
Germline p.R181H variant in TP53 in a family exemplifying the genotype-phenotype correlations in Li-Fraumeni syndrome	3
CHEK2-related breast cancer: real-world challenges	3
Somatic STK11 mosaicism in a Turkish patient with Peutz-Jeghers syndrome	3
Bilateral familial retinoblastoma diagnosed via optical coherence tomography following a normal funduscopic exam	3
Reclassification of two germline DICER1 splicing variants leads to DICER1 syndrome diagnosis	3
Barriers to completion of cascade genetic testing: how can we improve the uptake of testing for hereditary breast and ovarian cancer syndrome?	3

InSiGHT 2022 Abstract Publishing and Best Abstract Awards