OOIR: Observatory of International Research

Papers

(The TQCC of Hereditary Cancer in Clinical Practice 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 2020-11-01 to 2024-11-01.)

Article	Citations
CDKN2A germline alterations and the relevance of genotype-phenotype associations in cancer predisposition	41
Colorectal cancer incidences in Lynch syndrome: a comparison of results from the prospective lynch syndrome database and the international mismatch repair consortium	27
Can harmful lifestyle, obesity and weight changes increase the risk of breast cancer in BRCA 1 and BRCA 2 mutation carriers? A Mini review	22
Cytotoxic and targeted therapy for BRCA1/2-driven cancers	13
Genetic susceptibility to hereditary non-medullary thyroid cancer	12
Progress of HOTAIR-microRNA in hepatocellular carcinoma	10
Danish guidelines for management of non-APC-associated hereditary polyposis syndromes	10
Population or family history based BRCA gene tests of breast cancer? A systematic review of economic evaluations	10
Mainstream genetic testing for women with ovarian cancer provides a solid basis for patients to make a well-informed decision about genetic testing	9
Retrospective assessment of barriers and access to genetic services for hereditary cancer syndromes in an integrated health care delivery system	9
Current status of inherited pancreatic cancer	9
Efficacy of different neoadjuvant treatment regimens in BRCA-mutated triple negative breast cancer: a systematic review and meta-analysis	9
BRCA1 and BRCA2 mutations in ovarian cancer patients from Belarus: update	8
Improving our model of cascade testing for hereditary cancer risk by leveraging patient peer support: a concept report	7
Risk reduction strategies for BRCA1/2 hereditary ovarian cancer syndromes: a clinical practice guideline	7
Evaluation and comparison of hereditary Cancer guidelines in the population	7
Heterogeneous constitutional mismatch repair deficiency with MSH6 missense mutation clinically benefits from pembrolizumab and regorafenib combination therapy: a case report and literature review	7
Association of recurrent mutations in BRCA1, BRCA2, RAD51C, PALB2, and CHEK2 with the risk of borderline ovarian tumor	7
Dominantly inherited micro-satellite instable cancer – the four Lynch syndromes - an EHTG, PLSD position statement	7
Prevalence of RECQL germline variants in Pakistani early-onset and familial breast cancer patients	6
Pathological complete response to neoadjuvant chemotherapy in triple negative breast cancer – single hospital experience	6
Size matters in telomere biology disorders ‒ expanding phenotypic spectrum in patients with long or short telomeres	6
Metachronous cutaneous squamous cell carcinoma in a young patient as the only presenting symptom to uncover Lynch syndrome with MLH1 Germline mutation	6
Synchronous choroid plexus papilloma and Wilms tumor in a girl, disclosing a Li-Fraumeni syndrome	5
Metaplastic carcinoma of the breast and BRCA1 germline mutation: a case report and review	5

Room for improvement: One third of Lynch syndrome patients presenting for genetic testing in a highly specialised centre in Stockholm already have cancer	5
Spectrum of germline pathogenic variants using a targeted next generation sequencing panel and genotype-phenotype correlations in patients with suspected hereditary breast cancer at an academic medica	5
Characteristics and genetic testing outcomes of patients with clinically suspected paraganglioma/pheochromocytoma (PGL/PCC) syndrome in Singapore	5
Overview on population screening for carriers with germline mutations in mismatch repair (MMR) genes in China	5
“It was an important part of my treatment”: a qualitative study of Norwegian breast Cancer patients’ experiences with mainstreamed genetic testing	5
Familial pancreatic cancer with PALB2 and NBN pathogenic variants: a case report	5
The Prospective Lynch Syndrome Database: background, design, main results and complete MySQL code	5
Psychological and health behaviour outcomes following multi-gene panel testing for hereditary breast and ovarian cancer risk: a mini-review of the literature	4
Delineating the role of osteoprotegerin as a marker of breast cancer risk among women with a BRCA1 mutation	4
Women’s perceptions of PERSPECTIVE: a breast cancer risk stratification e-platform	4
Modifier genes and Lynch syndrome: some considerations	4
CHEK2 mutations and papillary thyroid cancer: correlation or coincidence?	4
A novel frequent BRCA1 recurrent variant c.5117G > A (p.Gly1206Glu) identified after 20 years of BRCA1/2 research in the Baltic region: cohort study and literature review	4
Expanding the phenotype of E318K (c.952G > A) MITF germline mutation carriers: case series and review of the literature	4
Are population level familial risks and germline genetics meeting each other?	4
Low-level constitutional mosaicism of BRCA1 in two women with young onset ovarian cancer	4
Germline mutations among Polish patients with acute myeloid leukemia	4
Phenotypic diversity among juvenile polyposis syndrome patients from different ethnic background	4
Literacy-adapted, electronic family history assessment for genetics referral in primary care: patient user insights from qualitative interviews	4