OOIR: Observatory of International Research

Papers

(The TQCC of Hereditary Cancer in Clinical Practice is 5. 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 2021-08-01 to 2025-08-01.)

Article	Citations
A genome-wide association study in Swedish colorectal cancer patients with gastric- and prostate cancer in relatives	36
A second hereditary cancer predisposition syndrome in a patient with lynch syndrome and three primary cancers	25
Risk reduction strategies for BRCA1/2 hereditary ovarian cancer syndromes: a clinical practice guideline	21
Primary fallopian tube cancer followed by primary breast cancer in RAD51C mutation carrier treated with niraparib as first line maintenance therapy: a case report	19
“Left in limbo”: Exploring how patients with colorectal cancer interpret and respond to a suspected Lynch syndrome diagnosis	16
Genotype–phenotype correlation of BMPR1a disease causing variants in juvenile polyposis syndrome	15
Size matters in telomere biology disorders ‒ expanding phenotypic spectrum in patients with long or short telomeres	15
Progression of duodenal neoplasia to advanced adenoma in patients with familial adenomatous polyposis	13
Frequency of BRCA1 and BRCA2 mutations in ovarian cancer patients in South-East Poland	12
Identifying patients with Lynch syndrome using a universal tumor screening program in an integrated healthcare system	12
Prostate Cancer: genetics in practice now and in the future	12
Correction to: Massive parallel sequencing in individuals with multiple primary tumours reveals the benefit of re-analysis	11
Genetic testing for hereditary breast cancer in Poland: 1998–2022	11
Association of recurrent mutations in BRCA1, BRCA2, RAD51C, PALB2, and CHEK2 with the risk of borderline ovarian tumor	9
Preoperative multimodal ultrasonic imaging in a case of Peutz-Jeghers syndrome complicated by atypical lobular endocervical glandular hyperplasia: a case report and literature review	9
Using a multistep approach with multidisciplinary team to increase the diagnosis rate of Lynch syndrome-associated colorectal cancer after universal screening: a single-center study in Japan	9
Delineating the role of osteoprotegerin as a marker of breast cancer risk among women with a BRCA1 mutation	9
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	8
Familial pancreatic cancer: a case study and review of the psychosocial effects of diagnoses on families	8
Descriptive study on subjective experience of genetic testing with respect to relationship, family planning and psychosocial wellbeing among women with lynch syndrome	8
Psychological and health behaviour outcomes following multi-gene panel testing for hereditary breast and ovarian cancer risk: a mini-review of the literature	8
Correction to: Significant detection of new germline pathogenic variants in Australian Pancreatic Cancer Screening Program participants	8
Universal testing in endometrial cancer in Sweden	7
Molecular analysis of BRCA1 and BRCA2 genes in La Rioja (Spain): five new variants	7
Meeting abstracts from the Annual Conference “Clinical Genetics of Cancer 2023”	7

Two independent families with de novo whole APC gene deletion and intellectual disability: a case report	7
Dominantly inherited micro-satellite instable cancer – the four Lynch syndromes - an EHTG, PLSD position statement	7
Diagnosis of patients with Lynch syndrome lacking the Amsterdam II or Bethesda criteria	6
PMS2 mutation spectra in Norway and risk of cancer for carriers of pathogenic variants	6
Endoscopic surveillance for colorectal cancer and its precursor lesions in Lynch syndrome; time for some policy shifts?	6
Significant detection of new germline pathogenic variants in Australian Pancreatic Cancer Screening Program participants	5
Efficacy of different neoadjuvant treatment regimens in BRCA-mutated triple negative breast cancer: a systematic review and meta-analysis	5
Lynch syndrome testing of colorectal cancer patients in a high-income country with universal healthcare: a retrospective study of current practice and gaps in seven australian hospitals	5
Can harmful lifestyle, obesity and weight changes increase the risk of breast cancer in BRCA 1 and BRCA 2 mutation carriers? A Mini review	5
Germline mutations among Polish patients with acute myeloid leukemia	5
Beyond the pill: contraception and the prevention of hereditary ovarian cancer	5
Possible link between familial susceptibility to cancer and the level of oxidative stress in thyroid cancer patients	5
Time to rethink colorectal cancer prevention strategies for lynch syndrome	5
De novo familial adenomatous polyposis with germline double heterozygosity of APC/BRCA2: a case report and literature review	5