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 2020-04-01 to 2024-04-01.)

Article	Citations
CDKN2A germline alterations and the relevance of genotype-phenotype associations in cancer predisposition	34
Can harmful lifestyle, obesity and weight changes increase the risk of breast cancer in BRCA 1 and BRCA 2 mutation carriers? A Mini review	20
Colorectal cancer incidences in Lynch syndrome: a comparison of results from the prospective lynch syndrome database and the international mismatch repair consortium	19
Polymorphisms in MMP-1, MMP-2, MMP-7, MMP-13 and MT2A do not contribute to breast, lung and colon cancer risk in polish population	13
Public support for healthcare-mediated disclosure of hereditary cancer risk information: Results from a population-based survey in Sweden	12
Cytotoxic and targeted therapy for BRCA1/2-driven cancers	11
Genetic susceptibility to hereditary non-medullary thyroid cancer	10
Danish guidelines for management of non-APC-associated hereditary polyposis syndromes	10
BRCA1 and BRCA2 mutations in ovarian cancer patients from Belarus: update	8
Population or family history based BRCA gene tests of breast cancer? A systematic review of economic evaluations	8
Risk reduction strategies for BRCA1/2 hereditary ovarian cancer syndromes: a clinical practice guideline	7
Progress of HOTAIR-microRNA in hepatocellular carcinoma	7
Retrospective assessment of barriers and access to genetic services for hereditary cancer syndromes in an integrated health care delivery system	7
Evaluation and comparison of hereditary Cancer guidelines in the population	6
Familial pancreatic cancer with PALB2 and NBN pathogenic variants: a case report	6
Metachronous cutaneous squamous cell carcinoma in a young patient as the only presenting symptom to uncover Lynch syndrome with MLH1 Germline mutation	6
Improving our model of cascade testing for hereditary cancer risk by leveraging patient peer support: a concept report	6
Prevalence of RECQL germline variants in Pakistani early-onset and familial breast cancer patients	6
Current status of inherited pancreatic cancer	6
Mainstream genetic testing for women with ovarian cancer provides a solid basis for patients to make a well-informed decision about genetic testing	6
An in-depth exploration of the post-test informational needs of BRCA1 and BRCA2 pathogenic variant carriers in Asia	6
Patients with unexplained mismatch repair deficiency are interested in updated genetic testing	5
Overview on population screening for carriers with germline mutations in mismatch repair (MMR) genes in China	5
Efficacy of different neoadjuvant treatment regimens in BRCA-mutated triple negative breast cancer: a systematic review and meta-analysis	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

Expectations and psychological issues before genetic counseling: analysis of distress determinant factors	5
Development and validation of next generation sequencing based 35-gene hereditary cancer panel	5
Delineating the role of osteoprotegerin as a marker of breast cancer risk among women with a BRCA1 mutation	4
Synchronous choroid plexus papilloma and Wilms tumor in a girl, disclosing a Li-Fraumeni syndrome	4
Metaplastic carcinoma of the breast and BRCA1 germline mutation: a case report and review	4
The Prospective Lynch Syndrome Database: background, design, main results and complete MySQL code	4
Low-level constitutional mosaicism of BRCA1 in two women with young onset ovarian cancer	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
An American patient with polyposis carrying a Scandinavian AXIN2 pathogenic variant	4
Women’s perceptions of PERSPECTIVE: a breast cancer risk stratification e-platform	4
Modifier genes and Lynch syndrome: some considerations	4
Association of recurrent mutations in BRCA1, BRCA2, RAD51C, PALB2, and CHEK2 with the risk of borderline ovarian tumor	4
Characteristics and genetic testing outcomes of patients with clinically suspected paraganglioma/pheochromocytoma (PGL/PCC) syndrome in Singapore	4
Room for improvement: One third of Lynch syndrome patients presenting for genetic testing in a highly specialised centre in Stockholm already have cancer	4
Heterogeneous constitutional mismatch repair deficiency with MSH6 missense mutation clinically benefits from pembrolizumab and regorafenib combination therapy: a case report and literature review	4