Hereditary Cancer in Clinical Practice

Papers
(The median citation count of Hereditary Cancer in Clinical Practice is 2. 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
Genotype–phenotype correlation of BMPR1a disease causing variants in juvenile polyposis syndrome13
Frequency of BRCA1 and BRCA2 mutations in ovarian cancer patients in South-East Poland13
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
Genetic testing for hereditary breast cancer in Poland: 1998–20229
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
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
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
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
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
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
PMS2 mutation spectra in Norway and risk of cancer for carriers of pathogenic variants5
Time to rethink colorectal cancer prevention strategies for lynch syndrome5
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
Germline mutations among Polish patients with acute myeloid leukemia4
Beyond the pill: contraception and the prevention of hereditary ovarian cancer4
Literacy-adapted, electronic family history assessment for genetics referral in primary care: patient user insights from qualitative interviews4
Validation of a guidelines-based digital tool to assess the need for germline cancer genetic testing4
Evaluation and comparison of hereditary Cancer guidelines in the population4
Germline HOXB13 mutation p.G84E do not confer an increased bladder or kidney cancer risk in polish population4
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 hospitals4
De novo familial adenomatous polyposis with germline double heterozygosity of APC/BRCA2: a case report and literature review4
BRCA2 germline mutation carrier with five malignancies: a case report4
Myxofibrosarcoma harboring an MLH1 pathogenic germline variant associated with Muir-Torre syndrome: a case report4
Two Japanese families with familial pancreatic cancer with suspected pathogenic variants of CDKN2A: a case report4
Efficacy of different neoadjuvant treatment regimens in BRCA-mutated triple negative breast cancer: a systematic review and meta-analysis4
Cytotoxic and targeted therapy for BRCA1/2-driven cancers4
Clinician perspectives on designing and implementing a hereditary cancer transition clinic4
Correction: When is a mutation not a mutation: the case of the c.594-2A>C splice variant in a woman harbouring another BRCA1 mutation in trans4
COVID-19 vaccination uptake and safety profile among germline BRCA1 and BRCA2 pathogenic variant carriers in Singapore4
Massive parallel sequencing in individuals with multiple primary tumours reveals the benefit of re-analysis3
Attitudes toward preimplantation genetic testing and quality of life among individuals with hereditary diffuse gastric cancer syndrome3
Incidences of colorectal adenomas and cancers under colonoscopy surveillance suggest an accelerated “Big Bang” pathway to CRC in three of the four Lynch syndromes3
Experiences of patients and family members with follow-up care, information needs and provider support after identification of Lynch Syndrome3
Li-Fraumeni syndrome presenting with de novo TP53 mutation, severe phenotype and advanced paternal age: a case report3
Unravelling genetic variants of a swedish family with high risk of prostate cancer3
The complementary roles of genome-wide approaches in identifying genes linked to an inherited risk of colorectal cancer3
Heterogeneity in the psychosocial and behavioral responses associated with a diagnosis of suspected Lynch syndrome in women with endometrial cancer3
Analysis of informed consent forms of patients undergoing cancer genetic testing in the era of next-generation sequencing2
Multiple endocrine neoplasia type 1: a new germline “homozygous” variant (c.201delC) caused by detection errors2
Unusual course of disease and genetic profile in Li-Fraumeni syndrome-associated osteosarcoma – a case report2
Retrospective assessment of barriers and access to genetic services for hereditary cancer syndromes in an integrated health care delivery system2
The Prospective Lynch Syndrome Database: background, design, main results and complete MySQL code2
Tumour mutational burden using a targeted panel approach for comprehensive tumour profiling focusing on colorectal cancer2
Modifier genes and Lynch syndrome: some considerations2
Current prospects of hereditary adrenal tumors: towards better clinical management2
Pregnancy after breast cancer in BRCA1/2 mutation carriers2
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