OOIR: Observatory of International Research

Papers

(The median citation count of Familial Cancer is 1. 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 2020-10-01 to 2024-10-01.)

Article	Citations
The clinical features of polymerase proof-reading associated polyposis (PPAP) and recommendations for patient management	35
Current recommendations for clinical surveillance and genetic testing in rhabdoid tumor predisposition: a report from the SIOPE Host Genome Working Group	26
Surveillance recommendations for DICER1 pathogenic variant carriers: a report from the SIOPE Host Genome Working Group and CanGene-CanVar Clinical Guideline Working Group	25
Current recommendations for cancer surveillance in Gorlin syndrome: a report from the SIOPE host genome working group (SIOPE HGWG)	22
Genetic predisposition to prostate cancer: an update	22
Positive experiences of healthcare professionals with a mainstreaming approach of germline genetic testing for women with ovarian cancer	18
Effective identification of cancer predisposition syndromes in children with cancer employing a questionnaire	16
Mainstreaming germline genetic testing for patients with pancreatic cancer increases uptake	16
Review of guidelines for the identification and clinical care of patients with genetic predisposition for hematological malignancies	13
Pilot study of an online training program to increase genetic literacy and communication skills in oncology healthcare professionals discussing BRCA1/2 genetic testing with breast and ovarian cancer p	11
Managing gastric cancer risk in lynch syndrome: controversies and recommendations	11
First international workshop of the ATM and cancer risk group (4-5 December 2019)	11
Colectomy and desmoid tumours in familial adenomatous polyposis: a systematic review and meta-analysis	11
Monoallelic MUTYH pathogenic variants ascertained via multi-gene hereditary cancer panels are not associated with colorectal, endometrial, or breast cancer	10
PTCH2 is not a strong candidate gene for gorlin syndrome predisposition	10
Selection criteria for assembling a pediatric cancer predisposition syndrome gene panel	10
Adaptation and early implementation of the PREdiction model for gene mutations (PREMM5™) for lynch syndrome risk assessment in a diverse population	10
Intestinal and extraintestinal neoplasms in patients with NTHL1 tumor syndrome: a systematic review	10
Patient ethnicity and cascade genetic testing: a descriptive study of a publicly funded hereditary cancer program	9
Proportion of children with cancer that have an indication for genetic counseling and testing based on the cancer type irrespective of other features	9
A large family with MSH3-related polyposis	8
Ovarian carcinoma in children with constitutional mutation of SMARCA4: single-family report and literature review	8
Discordant DNA mismatch repair protein status between synchronous or metachronous gastrointestinal carcinomas: frequency, patterns, and molecular etiologies	8
Potential risks associated with the use of ionizing radiation for imaging and treatment of colorectal cancer in Lynch syndrome patients	8
Rare germline variants in the AXIN2 gene in families with colonic polyposis and colorectal cancer	8

Familial colorectal cancer and tooth agenesis caused by an AXIN2 variant: how do we detect families with rare cancer predisposition syndromes?	6
“I wish that there was more info”: characterizing the uncertainty experienced by carriers of pathogenic ATM and/or CHEK2 variants	6
CDH1 pathogenic variants and cancer risk in an unselected patient population	6
Comparison of universal screening in major lynch-associated tumors: a systematic review of literature	6
Efficacy of paired tumor and germline testing in evaluation of patients with Lynch-like syndrome in a large integrated healthcare setting	6
Barriers to completion of cascade genetic testing: how can we improve the uptake of testing for hereditary breast and ovarian cancer syndrome?	6
Unusual phenotypes in patients with a pathogenic germline variant in DICER1	5
Characterization of sebaceous and non-sebaceous cutaneous manifestations in patients with lynch syndrome: a systematic review	5
Healthcare professionals’ perspectives on implementation of universal tumor DNA testing in ovarian cancer patients: multidisciplinary focus groups	5
Clinical value of a screening tool for tumor predisposition syndromes in childhood cancer patients (TuPS): a prospective, observational, multi-center study	5
Progress Report: New insights into the prevention of CRC by colonoscopic surveillance in Lynch syndrome	5
Choose and stay on one out of two paths: distinction between clinical versus research genetic testing to identify cancer predisposition syndromes among patients with cancer	5
The psychological impact and experience of breast cancer screening in young women with an increased risk of breast cancer due to neurofibromatosis type 1	5
Re-evaluating cancer risks associated with the CHEK2 p.Ser428Phe Ashkenazi Jewish founder pathogenic variant	5
Reclassification of two germline DICER1 splicing variants leads to DICER1 syndrome diagnosis	5
Whole genome sequencing and disease pattern in patients with juvenile polyposis syndrome: a nationwide study	5
Juvenile polyposis diagnosed with an integrated histological, immunohistochemical and molecular approach identifying new SMAD4 pathogenic variants	5
The paradigm of hematological malignant versus non-malignant manifestations, driven by primary immunodeficiencies: a complex interplay	5
Outcomes of retesting in patients with previously uninformative cancer genetics evaluations	5
Frequency and spectrum of mutations across 94 cancer predisposition genes in African American women with invasive breast cancer	4
Identification and management of Lynch syndrome in the Middle East and North African countries: outcome of a survey in 12 countries	4
Interpretation of BRCA2 Splicing Variants: A Case Series of Challenging Variant Interpretations and the Importance of Functional RNA Analysis	4
Heritable methylation marks associated with prostate cancer risk	4
Hereditary acute myeloid leukemia associated with C-terminal CEBPA germline variants	4
Infantile fibrosarcoma with TPM3-NTRK1 fusion in a boy with Bloom syndrome	4
Knowledge and psychosocial impact of genetic counseling and multigene panel testing among individuals with ovarian cancer	4
Long-term chemoprevention in patients with adenomatous polyposis coli: an observational study	4
Physicians’ experience, practice and education, on genetic testing and genetic counseling: a nationwide survey study in Greece	3
A mosaic pathogenic variant in MSH6 causes MSH6-deficient colorectal and endometrial cancer in a patient classified as suspected Lynch syndrome: a case report	3
The needs of Southeast Asian BRCA mutation carriers considering risk-reducing salpingo-oophorectomy: a qualitative study	3
Approach to screening for Familial Adenomatous Polyposis (FAP) in a cohort of 226 patients with Desmoid-type Fibromatosis (DF): experience of a specialist center in the UK	3
Colonoscopy surveillance in Lynch syndrome is burdensome and frequently delayed	3
Mainstreamed genetic testing of breast cancer patients: experience from a single surgeon’s practice in a large US Academic Center	3
Extended gene panel testing in lobular breast cancer	3
The role of TP53 pathogenic variants in early-onset HER2-positive breast cancer	3
Perspectives on the implications of carrying putative pathogenic variants in the medulloblastoma predisposition genes ELP1 and GPR161	3
A patient with very early onset FH-deficient renal cell carcinoma diagnosed at age seven	3
Age of diagnosis in familial Barrett’s associated neoplasia	3
Early-onset malignant phyllodes breast tumor in a patient with germline pathogenic variants in NF1 and BRCA1 genes	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
Preimplantation genetic testing in patients with genetic susceptibility to cancer	3
BRCA1 Norway: comparison of classification for BRCA1 germline variants detected in families with suspected hereditary breast and ovarian cancer between different laboratories	2
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	2
Remote vs in-person BRCA1/2 non-carriers test disclosure: patients’ choice during Covid-19 pandemic restriction	2
Prevalence and risk factors of barrett’s esophagus in lynch syndrome	2
A recurrent pathogenic BRCA2 exon 5–11 duplication in the Christian Arab population in Israel	2
Constitutional 2p16.3 deletion including MSH6 and FBXO11 in a boy with developmental delay and diffuse large B-cell lymphoma	2
Hereditary medullary thyroid carcinoma syndromes: experience from western India	2
Can our experience with surveillance for inherited pancreatic cancer help to identify early pancreatic cancer in the general population?	2
The role of endoscopic ultrasound in the detection of pancreatic lesions in high-risk individuals	2

Prevalence and genetic spectrum associated with hereditary colorectal cancer syndromes, the need to improve cancer risk awareness, and family cascade testing in Vietnam	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
Use of sanger and next-generation sequencing to screen for mosaic and intronic APC variants in unexplained colorectal polyposis patients	2
A pilot study investigating feasibility of mainstreaming germline BRCA1 and BRCA2 testing in high-risk patients with breast and/or ovarian cancer in three tertiary Cancer Centres in Ireland	2
Inherited BRCA1 and RNF43 pathogenic variants in a familial colorectal cancer type X family	2
Determinants of adherence to recommendations on physical activity, red and processed meat intake, and body weight among lynch syndrome patients	2
A retrospective cohort study of genetic referral and diagnosis of Lynch syndrome in patients with cutaneous sebaceous lesions	2
Progress report: Peutz–Jeghers syndrome	2
Evaluating the role of CHEK2 p.(Asp438Tyr) allele in inherited breast cancer predisposition	2
Familial and hereditary pancreatic cancer in Japan	2
Laboratory variation in the grading of dysplasia of duodenal adenomas in familial adenomatous polyposis patients	2
Recurring pathogenic variants in the BRCA2 gene in the Ethiopian Jewish population. Founder mutations?	2
Identifying the BRCA1 c.-107A > T variant in Dutch patients with a tumor BRCA1 promoter hypermethylation	2
The response of pancreatic acinar cell carcinoma to platinum and olaparib therapy in a germline BRCA2 variant carrier: case report and literature review	1
Li Fraumeni Syndrome predisposes to gastro-esophageal junction tumours	1
A case of Rothmund-Thomson syndrome originally thought to be a case of Bloom syndrome	1
The Spanish Familial Pancreatic Cancer Registry (PANGENFAM): a decade follow-up of individuals at high-risk for pancreatic cancer	1
Malignancy risk in individuals with familial adenomatous polyposis receiving biologics and immunomodulators	1
A de novo pathogenic variant in the MSH6 gene in a 52 years-old woman	1
The role of biomarkers in the early detection of pancreatic cancer	1
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	1
Characteristics of familial pancreatic cancer families with additional colorectal carcinoma	1
Ninth International Symposium on Hereditary Breast and Ovarian Cancer	1
Cancer surveillance for transgender and gender diverse patients with Lynch syndrome: a practice resource of the Collaborative Group of the Americas on Inherited Gastrointestinal Cancer	1
Precursor lesions in familial and hereditary pancreatic cancer	1
Cascade genetic testing for hereditary cancer syndromes: a review of barriers and breakthroughs	1
A need to tailor surveillance based on family history: describing a highly penetrant familial paraganglioma kindred with an SDHD pathogenic variant	1
Medullary thyroid cancer and pheochromocytoma in MEN2A: are there parent of origin effects on disease expression?	1
Expanding access to genetic testing for pancreatic cancer	1
Utility of interim blood tests for cancer screening in Li-Fraumeni syndrome	1
Cascade genetic testing: an underutilized pathway to equitable cancer care?	1
Genetic and other risk factors for pancreatic ductal adenocarcinoma (PDAC)	1
Surgical aspects related to hereditary pancreatic cancer	1
Age at diagnosis of cancer in 185delAG BRCA1 mutation carriers of diverse ethnicities: tentative evidence for modifier factors	1
Uterine leiomyomatosis in adolescents and young adults (AYAs) may represent a narrow phenotypic variant of FH tumour predisposition syndrome	1
The Italian registry of families at risk for pancreatic cancer (IRFARPC): implementation and evolution of a national program for pancreatic cancer surveillance in high-risk individuals	1
Attitudes toward genetic testing, family planning and preimplantation genetic testing in families with a germline CDKN2A pathogenic variant	1
In deep bioinformatic characterization of a novel fumarate hydratase variant FH c.199T > G; (p.Tyr67Asp) in hereditary leiomyomatosis and renal cell carcinoma	1
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	1
A comprehensive reference for BRCA1/2 genes pathogenic variants in Iran: published, unpublished and novel	1
PREMM5 distinguishes sporadic from Lynch syndrome-associated MMR-deficient/MSI-high colorectal cancer	1
Hepatocellular carcinoma and solid pseudopapillary neoplasm of the pancreas complicating familial adenomatous polyposis: two cases and review of the literature	1
Risk-reducing salpingectomy with delayed oophorectomy to prevent ovarian cancer in women with an increased inherited risk: insights into an alternative strategy	1
Review of the cost-effectiveness of surveillance for hereditary pancreatic cancer	1
Truncating TINF2 p.Tyr312Ter variant and inherited breast cancer susceptibility	1
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	1
CGA-IGC 2023 Abstracts	1
Familial pancreatic cancer: a long fruitful journey	1
The odyssee from surveillance to the detection of pancreatic cancer, total pancreatectomy, and its impact on life. insights from a p16-Leiden pathogenic variant carrier	1
Screening for pancreatic cancer in high-risk individuals using MRI: optimization of scan techniques to detect small lesions	1
Cascade screening in HBOC and Lynch syndrome: guidelines and procedures in a UK centre	1
Aspects and outcomes of surveillance for individuals at high-risk of pancreatic cancer	1
Evaluation of EGFR and COX pathway inhibition in human colon organoids of serrated polyposis and other hereditary cancer syndromes	1
Universal tumor screening for lynch syndrome on colorectal cancer biopsies impacts surgical treatment decisions	1
CDH1 mutations recurrence and global clustering in genetically tested families with hereditary diffuse gastric cancer syndrome: results from a systematic study	1
Low prevalence of gastric intestinal metaplasia and Helicobacter pylori on surveillance upper endoscopy in Lynch syndrome	1
Collaborative Group of the Americas on Inherited Gastrointestinal Cancers (CGA-IGC) Annual Virtual Meeting, November 13–15, 2021	1