OOIR: Observatory of International Research

Papers

(The median citation count of Familial Cancer is 2. 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 2022-01-01 to 2026-01-01.)

Article	Citations
Prevalence of cardiometabolic outcomes in women who underwent salpingo-oophorectomy to prevent hereditary breast and ovarian cancer: a meta-analysis	30
Laboratory variation in the grading of dysplasia of duodenal adenomas in familial adenomatous polyposis patients	22
Colonoscopy surveillance in Lynch syndrome is burdensome and frequently delayed	18
Hereditary breast and ovarian cancer genetic testing in unselected patients: example of private supplementation of public healthcare service	17
Cascade genetic testing: an underutilized pathway to equitable cancer care?	17
Long-term chemoprevention in patients with adenomatous polyposis coli: an observational study	15
Collaborative Group of the Americas on Inherited Gastrointestinal Cancers (CGA-IGC) Annual Virtual Meeting, November 13–15, 2021	13
Detection of a major Lynch Syndrome-causing MLH1 founder variant in a large-scale genotyped cohort	13
Cascade genetic counseling and testing in hereditary syndromes: inherited cardiovascular disease as a model: a narrative review	12
Digital innovation for cancer risk assessment allows large-scale service redevelopment of regional cancer genetics service delivery	12
Psychosocial barriers and facilitators for cascade genetic testing in hereditary breast and ovarian cancer: a scoping review	12
Hereditary acute myeloid leukemia associated with C-terminal CEBPA germline variants	12
Monoallelic MUTYH pathogenic variants ascertained via multi-gene hereditary cancer panels are not associated with colorectal, endometrial, or breast cancer	11
Clinician perspectives on policy approaches to genetic risk disclosure in families	10
Misclassification of a frequent variant from PMS2CL pseudogene as a PMS2 loss of function variant in Brazilian patients	9
Overlap syndrome of hereditary hemorrhagic telangiectasia and juvenile polyposis syndrome: ten years follow-up-case series and review of literature	8
Haplotype analysis detects MLH1 founder variant in Indian Lynch syndrome patient cohort	8
The genetic landscape of Lynch syndrome in the Israeli population	8
Progress report: Peutz–Jeghers syndrome	8
Functional and phenotypic consequences of an unusual inversion in MSH2	8
Correction: Benign tumors and non-melanoma skin cancers in patients with fanconi anemia	7
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	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
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	7
Endoscopic screening for identification of signet ring cell gastric cancer foci in carriers of germline pathogenic variants in CDH1	7

Mainstreamed genetic testing of breast cancer patients: experience from a single surgeon’s practice in a large US Academic Center	7
Impact of hormonal contraception on endometrial histology in patients with Lynch syndrome, a retrospective pilot study	7
Balancing the burden and benefits of colonoscopy in Lynch Syndrome	7
In memoriam: Gloria Petersen, PhD (1950-2023)	7
A case of Rothmund-Thomson syndrome originally thought to be a case of Bloom syndrome	6
Cascade testing for hereditary cancer in Singapore: how population genomics help guide clinical policy	6
Colectomy and desmoid tumours in familial adenomatous polyposis: a systematic review and meta-analysis	6
Analysis of uveal melanomas and paired constitutional DNA for exclusion of a BAP1-tumor predisposition syndrome	6
PREMM5 distinguishes sporadic from Lynch syndrome-associated MMR-deficient/MSI-high colorectal cancer	6
Prevalence and risk factors of barrett’s esophagus in lynch syndrome	6
Risk-reducing salpingectomy with delayed oophorectomy to prevent ovarian cancer in women with an increased inherited risk: insights into an alternative strategy	6
Hepatocellular carcinoma and solid pseudopapillary neoplasm of the pancreas complicating familial adenomatous polyposis: two cases and review of the literature	6
Cascade genetic testing for hereditary cancer syndromes: a review of barriers and breakthroughs	6
Addressing uncertainty in hereditary colorectal cancer: the role of a regional expert multidisciplinary team meeting	5
Optimizing the detection of hereditary predisposition in women with epithelial ovarian cancer: nationwide implementation of the Tumor-First workflow	5
In Memoriam: Steffen Bülow (1943–2023)	5
Aberrant transcription caused by an intronic non-canonical CDH1 variant	5
Universal tumor screening for lynch syndrome on colorectal cancer biopsies impacts surgical treatment decisions	5
Benign tumors and non-melanoma skin cancers in patients with Fanconi anemia	5
Mainstreaming cancer genetics: feasibility of an advanced nurse practitioner-led service diagnosing Lynch syndrome from colorectal cancer in Ireland	5
Whole genome sequencing and disease pattern in patients with juvenile polyposis syndrome: a nationwide study	5
A large family with MSH3-related polyposis	5
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	5
Report of the sixth meeting of the European Consortium ‘Care for CMMRD’ (C4CMMRD), Paris, France, November 16th 2022	4
The role of endoscopic ultrasound in the detection of pancreatic lesions in high-risk individuals	4
Cascade screening in HBOC and Lynch syndrome: guidelines and procedures in a UK centre	4
Attitudes toward genetic testing, family planning and preimplantation genetic testing in families with a germline CDKN2A pathogenic variant	4
Heritable methylation marks associated with prostate cancer risk	4
Evaluation of EGFR and COX pathway inhibition in human colon organoids of serrated polyposis and other hereditary cancer syndromes	4
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	3
Germline whole genome sequencing in adults with multiple primary tumors	3
Recurring pathogenic variants in the BRCA2 gene in the Ethiopian Jewish population. Founder mutations?	3
Inherited BRCA1 and RNF43 pathogenic variants in a familial colorectal cancer type X family	3
A PMS2 non-canonical splicing site variant leads to aberrant splicing in a patient suspected for lynch syndrome	3
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
Review of the cost-effectiveness of surveillance for hereditary pancreatic cancer	3
Familial pancreatic cancer: a long fruitful journey	3
Thirty-year compliance with a surveillance program for patients with familial adenomatous polyposis	3
Endoscopic indicators in patients with familial adenomatous polyposis undergoing duodenal resections – a nationwide Danish cohort study with long-term follow-up	3
Aspects and outcomes of surveillance for individuals at high-risk of pancreatic cancer	3
Bilateral familial retinoblastoma diagnosed via optical coherence tomography following a normal funduscopic exam	3
Physicians’ experience, practice and education, on genetic testing and genetic counseling: a nationwide survey study in Greece	3
Willingness of individuals with Li-Fraumeni syndrome to participate in a cancer prevention trial: a survey study	3
The 17th International Meeting on Psychosocial Aspects of Hereditary Cancer (IMPAHC)	3
In deep bioinformatic characterization of a novel fumarate hydratase variant FH c.199T > G; (p.Tyr67Asp) in hereditary leiomyomatosis and renal cell carcinoma	3
Mainstreaming germline genetic testing for patients with pancreatic cancer increases uptake	3
Detecting inversions in routine molecular diagnosis in MMR genes	3
Characteristics of familial pancreatic cancer families with additional colorectal carcinoma	3
Healthcare professionals’ perspectives on implementation of universal tumor DNA testing in ovarian cancer patients: multidisciplinary focus groups	3
Truncating TINF2 p.Tyr312Ter variant and inherited breast cancer susceptibility	3

Novel telomerase reverse transcriptase gene mutation in a family with aplastic anaemia	2
Complications of colonoscopy surveillance of patients with Lynch syndrome – 33 years of follow up	2
Barriers to completion of cascade genetic testing: how can we improve the uptake of testing for hereditary breast and ovarian cancer syndrome?	2
Somatic STK11 mosaicism in a Turkish patient with Peutz-Jeghers syndrome	2
InSiGHT 2022 Abstract Publishing and Best Abstract Awards	2
New RPS20 gene variant in colorectal cancer diagnosis: insight from a large series of patients	2
Cascade testing in Italian Hereditary Breast Ovarian Cancer families: a missed opportunity for cancer prevention?	2
A need to tailor surveillance based on family history: describing a highly penetrant familial paraganglioma kindred with an SDHD pathogenic variant	2
A family-based approach to cascade genetic testing in a pediatric cancer genetics clinic	2
Intestinal and extraintestinal neoplasms in patients with NTHL1 tumor syndrome: a systematic review	2
Germline p.R181H variant in TP53 in a family exemplifying the genotype-phenotype correlations in Li-Fraumeni syndrome	2
BRCA1 Norway: comparison of classification for BRCA1 germline variants detected in families with suspected hereditary breast and ovarian cancer between different laboratories	2
Reclassification of two germline DICER1 splicing variants leads to DICER1 syndrome diagnosis	2
Recurrent paraneoplastic nephrotic syndrome; insights from a Lynch syndrome patient with multiple malignancies	2
Remote vs in-person BRCA1/2 non-carriers test disclosure: patients’ choice during Covid-19 pandemic restriction	2
Founder vs. non-founder BRCA1/2 pathogenic alleles: the analysis of Belarusian breast and ovarian cancer patients and review of other studies on ethnically homogenous populations	2
MSH6-proficient crypt foci in MSH6 constitutional mismatch repair deficiency: reversion of a frameshifted coding microsatellite to its wild-type sequence	2
CHEK2-related breast cancer: real-world challenges	2
Use and feasibility of a Lynch Syndrome predictive model for inherited colorectal and endometrial cancer in a low-middle income country	2
2022 CGA-IGC Annual Meeting: The collaborative group of the Americas on Inherited Gastrointestinal Cancer November 11–13, 2022	2
Pilot study of a decision aid on BRCA1/2 genetic testing among Orthodox Jewish women	2
Juvenile polyposis diagnosed with an integrated histological, immunohistochemical and molecular approach identifying new SMAD4 pathogenic variants	2
Surgical aspects related to hereditary pancreatic cancer	2