Hereditary Cancer in Clinical Practice

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 2021-06-01 to 2025-06-01.)
ArticleCitations
A second hereditary cancer predisposition syndrome in a patient with lynch syndrome and three primary cancers36
A genome-wide association study in Swedish colorectal cancer patients with gastric- and prostate cancer in relatives25
Risk reduction strategies for BRCA1/2 hereditary ovarian cancer syndromes: a clinical practice guideline17
Primary fallopian tube cancer followed by primary breast cancer in RAD51C mutation carrier treated with niraparib as first line maintenance therapy: a case report16
Size matters in telomere biology disorders ‒ expanding phenotypic spectrum in patients with long or short telomeres15
“Left in limbo”: Exploring how patients with colorectal cancer interpret and respond to a suspected Lynch syndrome diagnosis15
Frequency of BRCA1 and BRCA2 mutations in ovarian cancer patients in South-East Poland13
Genotype–phenotype correlation of BMPR1a disease causing variants in juvenile polyposis syndrome13
Progression of duodenal neoplasia to advanced adenoma in patients with familial adenomatous polyposis12
Prostate Cancer: genetics in practice now and in the future11
A novel germline mutation in hMLH1 in three Korean women with endometrial cancer in a family of Lynch syndrome: case report and literature review10
Identifying patients with Lynch syndrome using a universal tumor screening program in an integrated healthcare system10
Preoperative multimodal ultrasonic imaging in a case of Peutz-Jeghers syndrome complicated by atypical lobular endocervical glandular hyperplasia: a case report and literature review9
Correction to: Massive parallel sequencing in individuals with multiple primary tumours reveals the benefit of re-analysis9
Genetic testing for hereditary breast cancer in Poland: 1998–20229
Delineating the role of osteoprotegerin as a marker of breast cancer risk among women with a BRCA1 mutation8
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 Japan8
Association of recurrent mutations in BRCA1, BRCA2, RAD51C, PALB2, and CHEK2 with the risk of borderline ovarian tumor8
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 medica8
Descriptive study on subjective experience of genetic testing with respect to relationship, family planning and psychosocial wellbeing among women with lynch syndrome8
Dominantly inherited micro-satellite instable cancer – the four Lynch syndromes - an EHTG, PLSD position statement7
Correction to: Significant detection of new germline pathogenic variants in Australian Pancreatic Cancer Screening Program participants7
Universal testing in endometrial cancer in Sweden7
Psychological and health behaviour outcomes following multi-gene panel testing for hereditary breast and ovarian cancer risk: a mini-review of the literature7
Meeting abstracts from the Annual Conference “Clinical Genetics of Cancer 2023”7
Familial pancreatic cancer: a case study and review of the psychosocial effects of diagnoses on families7
Two independent families with de novo whole APC gene deletion and intellectual disability: a case report6
Molecular analysis of BRCA1 and BRCA2 genes in La Rioja (Spain): five new variants6
Endoscopic surveillance for colorectal cancer and its precursor lesions in Lynch syndrome; time for some policy shifts?5
Significant detection of new germline pathogenic variants in Australian Pancreatic Cancer Screening Program participants5
Can harmful lifestyle, obesity and weight changes increase the risk of breast cancer in BRCA 1 and BRCA 2 mutation carriers? A Mini review5
Diagnosis of patients with Lynch syndrome lacking the Amsterdam II or Bethesda criteria5
Possible link between familial susceptibility to cancer and the level of oxidative stress in thyroid cancer patients5
PMS2 mutation spectra in Norway and risk of cancer for carriers of pathogenic variants5
Time to rethink colorectal cancer prevention strategies for lynch syndrome5
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