Hereditary Cancer in Clinical Practice

Papers
(The median citation count of Hereditary Cancer in Clinical Practice is 1. 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 2021-04-01 to 2025-04-01.)
ArticleCitations
CMMRD caused by PMS1 mutation in a sudanese consanguineous family33
Lynch-like syndrome with germline WRN mutation in Bulgarian patient with synchronous endometrial and ovarian cancer24
Impact of national guidelines on use of BRCA1/2 germline testing, risk management advice given to women with pathogenic BRCA1/2 variants and uptake of advice16
Risk reduction strategies for BRCA1/2 hereditary ovarian cancer syndromes: a clinical practice guideline15
A second hereditary cancer predisposition syndrome in a patient with lynch syndrome and three primary cancers14
Attitudes toward preimplantation genetic testing and quality of life among individuals with hereditary diffuse gastric cancer syndrome14
A genome-wide association study in Swedish colorectal cancer patients with gastric- and prostate cancer in relatives13
Blood molybdenum level as a marker of cancer risk on BRCA1 carriers11
Correction to: Significant detection of new germline pathogenic variants in Australian Pancreatic Cancer Screening Program participants10
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 hospitals10
Efficacy of different neoadjuvant treatment regimens in BRCA-mutated triple negative breast cancer: a systematic review and meta-analysis10
Correction to: Overview on population screening for carriers with germline mutations in mismatch repair (MMR) genes in China9
Li-Fraumeni syndrome presenting with de novo TP53 mutation, severe phenotype and advanced paternal age: a case report9
SMAD4 variants and its genotype–phenotype correlations to juvenile polyposis syndrome8
Pathological complete response to neoadjuvant chemotherapy in triple negative breast cancer – single hospital experience8
BRCA1/2 variants and copy number alterations status in non familial triple negative breast cancer and high grade serous ovarian cancer7
Should the BCRA1/2-mutations healthy carriers be valid candidates for hematopoietic stem cell donation?7
Primary fallopian tube cancer followed by primary breast cancer in RAD51C mutation carrier treated with niraparib as first line maintenance therapy: a case report7
Periampullary tumors in a patient with pancreatic divisum and neurofibromatosis type 1: a case report7
The complementary roles of genome-wide approaches in identifying genes linked to an inherited risk of colorectal cancer7
Current advances and challenges in Managing Hereditary Diffuse Gastric Cancer (HDGC): a narrative review7
CHEK2 mutations and papillary thyroid cancer: correlation or coincidence?7
Experiences of patients and family members with follow-up care, information needs and provider support after identification of Lynch Syndrome6
Barriers and facilitators to using aspirin for preventive therapy: a qualitative study exploring the views and experiences of people with Lynch syndrome and healthcare providers5
Age-specific familial risks in cancer as clues to germline genetic and environmental causes: focus on colorectal, endometrial, prostate, kidney, breast and lung cancers5
Beyond the pill: contraception and the prevention of hereditary ovarian cancer5
Simultaneous bilateral mastectomy and RRSO for BRCA2-positive non-invasive breast cancer in Japan: a case report and analysis of initial experience5
Reflex BRCA1 and BRCA2 tumour genetic testing for high-grade serous ovarian cancer: streamlined for clinicians but what do patients think?5
Familial pancreatic cancer: a case study and review of the psychosocial effects of diagnoses on families5
Incidences of colorectal adenomas and cancers under colonoscopy surveillance suggest an accelerated “Big Bang” pathway to CRC in three of the four Lynch syndromes4
Dominantly inherited micro-satellite instable cancer – the four Lynch syndromes - an EHTG, PLSD position statement4
Are population level familial risks and germline genetics meeting each other?4
Retrospective assessment of barriers and access to genetic services for hereditary cancer syndromes in an integrated health care delivery system4
Psychological factors and the uptake of preventative measures in BRCA1/2 pathogenic variant carriers: results of a prospective cohort study4
“Left in limbo”: Exploring how patients with colorectal cancer interpret and respond to a suspected Lynch syndrome diagnosis4
Colorectal cancer incidences in Lynch syndrome: a comparison of results from the prospective lynch syndrome database and the international mismatch repair consortium4
Massive parallel sequencing in a family with rectal cancer4
Psychological and health behaviour outcomes following multi-gene panel testing for hereditary breast and ovarian cancer risk: a mini-review of the literature4
Massive parallel sequencing in individuals with multiple primary tumours reveals the benefit of re-analysis4
Unravelling genetic variants of a swedish family with high risk of prostate cancer4
Size matters in telomere biology disorders ‒ expanding phenotypic spectrum in patients with long or short telomeres4
Choices for cancer prevention for women with a BRCA1 mutation? a personal view4
Low-level constitutional mosaicism of BRCA1 in two women with young onset ovarian cancer4
Multiple endocrine neoplasia type 1: a new germline “homozygous” variant (c.201delC) caused by detection errors3
Clinical characteristics and genetic testing outcome of suspected hereditary peripheral nerve sheath tumours in a tertiary cancer institution in Singapore3
Modifier genes and Lynch syndrome: some considerations3
Mutations in Helicobacter pylori infected patients with chronic gastritis, intestinal type of gastric cancer and familial gastric cancer3
Diagnosis of patients with Lynch syndrome lacking the Amsterdam II or Bethesda criteria3
Meeting abstracts from the Annual Conference “Clinical Genetics of Cancer 2022”3
Beyond germline genetic testing - heterozygous pathogenic variants in PMS2 in two children with Osteosarcoma and Ependymoma3
The Prospective Lynch Syndrome Database: background, design, main results and complete MySQL code3
Meeting abstracts from the Annual Conference “Clinical Genetics of Cancer 2023”3
Population or family history based BRCA gene tests of breast cancer? A systematic review of economic evaluations3
Pregnancy after breast cancer in BRCA1/2 mutation carriers3
Molecular analysis of BRCA1 and BRCA2 genes in La Rioja (Spain): five new variants3
Universal testing in endometrial cancer in Sweden3
Two independent families with de novo whole APC gene deletion and intellectual disability: a case report2
Analysis of informed consent forms of patients undergoing cancer genetic testing in the era of next-generation sequencing2
De novo familial adenomatous polyposis with germline double heterozygosity of APC/BRCA2: a case report and literature review2
Assessing germline TP53 mutations in cancer patients: insights into Li-Fraumeni syndrome and genetic testing guidelines2
Overview on population screening for carriers with germline mutations in mismatch repair (MMR) genes in China2
Cytotoxic and targeted therapy for BRCA1/2-driven cancers2
A novel germline mutation in hMLH1 in three Korean women with endometrial cancer in a family of Lynch syndrome: case report and literature review1
Significant detection of new germline pathogenic variants in Australian Pancreatic Cancer Screening Program participants1
Literacy-adapted, electronic family history assessment for genetics referral in primary care: patient user insights from qualitative interviews1
Genotype–phenotype correlation of BMPR1a disease causing variants in juvenile polyposis syndrome1
Prostate Cancer: genetics in practice now and in the future1
PMS2 mutation spectra in Norway and risk of cancer for carriers of pathogenic variants1
The prevalence of lynch syndrome (DNA mismatch repair protein deficiency) in patients with primary localized prostate cancer using immunohistochemistry screening1
Phenotypic diversity among juvenile polyposis syndrome patients from different ethnic background1
Progression of duodenal neoplasia to advanced adenoma in patients with familial adenomatous polyposis1
Women’s perceptions of PERSPECTIVE: a breast cancer risk stratification e-platform1
Current prospects of hereditary adrenal tumors: towards better clinical management1
BRCA2 germline mutation carrier with five malignancies: a case report1
Deciding the operation type according to mismatch repair status among hereditary nonpolyposis colorectal cancer patients: should a tailored approach be applied, or does one size fit all?1
Frequency of BRCA1 and BRCA2 mutations in ovarian cancer patients in South-East Poland1
Can harmful lifestyle, obesity and weight changes increase the risk of breast cancer in BRCA 1 and BRCA 2 mutation carriers? A Mini review1
Identifying patients with Lynch syndrome using a universal tumor screening program in an integrated healthcare system1
Statewide trends and factors associated with genetic testing for hereditary cancer risk in Arkansas 2013–20181
Unusual course of disease and genetic profile in Li-Fraumeni syndrome-associated osteosarcoma – a case report1
Gastrointestinal manifestations in patients with gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS): a systematic review with analysis of individual patient data1
Expanding the phenotype of E318K (c.952G > A) MITF germline mutation carriers: case series and review of the literature1
Danish guidelines for management of non-APC-associated hereditary polyposis syndromes1
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