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 2021-02-01 to 2025-02-01.)
ArticleCitations
CMMRD caused by PMS1 mutation in a sudanese consanguineous family41
Efficacy of different neoadjuvant treatment regimens in BRCA-mutated triple negative breast cancer: a systematic review and meta-analysis27
Attitudes toward preimplantation genetic testing and quality of life among individuals with hereditary diffuse gastric cancer syndrome22
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 hospitals13
The complementary roles of genome-wide approaches in identifying genes linked to an inherited risk of colorectal cancer12
Lynch-like syndrome with germline WRN mutation in Bulgarian patient with synchronous endometrial and ovarian cancer10
Li-Fraumeni syndrome presenting with de novo TP53 mutation, severe phenotype and advanced paternal age: a case report10
SMAD4 variants and its genotype–phenotype correlations to juvenile polyposis syndrome10
A second hereditary cancer predisposition syndrome in a patient with lynch syndrome and three primary cancers9
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 advice9
Neoadjuvant therapy of BRCA1-driven ovarian cancer by combination of cisplatin, mitomycin C and doxorubicin9
Pathological complete response to neoadjuvant chemotherapy in triple negative breast cancer – single hospital experience9
Correction to: Overview on population screening for carriers with germline mutations in mismatch repair (MMR) genes in China7
Risk reduction strategies for BRCA1/2 hereditary ovarian cancer syndromes: a clinical practice guideline7
Correction to: Significant detection of new germline pathogenic variants in Australian Pancreatic Cancer Screening Program participants7
Blood molybdenum level as a marker of cancer risk on BRCA1 carriers7
A genome-wide association study in Swedish colorectal cancer patients with gastric- and prostate cancer in relatives7
Reflex BRCA1 and BRCA2 tumour genetic testing for high-grade serous ovarian cancer: streamlined for clinicians but what do patients think?6
BRCA1/2 variants and copy number alterations status in non familial triple negative breast cancer and high grade serous ovarian cancer6
Should the BCRA1/2-mutations healthy carriers be valid candidates for hematopoietic stem cell donation?5
Experiences of patients and family members with follow-up care, information needs and provider support after identification of Lynch Syndrome5
Periampullary tumors in a patient with pancreatic divisum and neurofibromatosis type 1: a case report5
Primary fallopian tube cancer followed by primary breast cancer in RAD51C mutation carrier treated with niraparib as first line maintenance therapy: a case report5
Unravelling genetic variants of a swedish family with high risk of prostate cancer5
“Left in limbo”: Exploring how patients with colorectal cancer interpret and respond to a suspected Lynch syndrome diagnosis4
Risk of hematological malignancies in the families of patients treated for nodular lymphocyte-predominant Hodgkin lymphoma4
Beyond the pill: contraception and the prevention of hereditary ovarian cancer4
Low-level constitutional mosaicism of BRCA1 in two women with young onset ovarian cancer4
Simultaneous bilateral mastectomy and RRSO for BRCA2-positive non-invasive breast cancer in Japan: a case report and analysis of initial experience4
Dominantly inherited micro-satellite instable cancer – the four Lynch syndromes - an EHTG, PLSD position statement4
Psychological factors and the uptake of preventative measures in BRCA1/2 pathogenic variant carriers: results of a prospective cohort study4
Barriers and facilitators to using aspirin for preventive therapy: a qualitative study exploring the views and experiences of people with Lynch syndrome and healthcare providers4
Current advances and challenges in Managing Hereditary Diffuse Gastric Cancer (HDGC): a narrative review4
CHEK2 mutations and papillary thyroid cancer: correlation or coincidence?4
Incidences of colorectal adenomas and cancers under colonoscopy surveillance suggest an accelerated “Big Bang” pathway to CRC in three of the four Lynch syndromes4
Colorectal cancer incidences in Lynch syndrome: a comparison of results from the prospective lynch syndrome database and the international mismatch repair consortium3
Are population level familial risks and germline genetics meeting each other?3
Meeting abstracts from the Annual Conference “Clinical Genetics of Cancer 2022”3
Modifier genes and Lynch syndrome: some considerations3
Beyond germline genetic testing - heterozygous pathogenic variants in PMS2 in two children with Osteosarcoma and Ependymoma3
Massive parallel sequencing in a family with rectal cancer3
Psychological and health behaviour outcomes following multi-gene panel testing for hereditary breast and ovarian cancer risk: a mini-review of the literature3
Size matters in telomere biology disorders ‒ expanding phenotypic spectrum in patients with long or short telomeres3
Genotype–phenotype correlation of BMPR1a disease causing variants in juvenile polyposis syndrome3
Universal testing in endometrial cancer in Sweden3
Population or family history based BRCA gene tests of breast cancer? A systematic review of economic evaluations3
Choices for cancer prevention for women with a BRCA1 mutation? a personal view3
Familial pancreatic cancer: a case study and review of the psychosocial effects of diagnoses on families3
Retrospective assessment of barriers and access to genetic services for hereditary cancer syndromes in an integrated health care delivery system3
Massive parallel sequencing in individuals with multiple primary tumours reveals the benefit of re-analysis3
Characteristics of BRCA1/2 pathogenic germline mutations in chinese NSCLC patients and a comparison with HBOC3
The Prospective Lynch Syndrome Database: background, design, main results and complete MySQL code3
Clinical characteristics and genetic testing outcome of suspected hereditary peripheral nerve sheath tumours in a tertiary cancer institution in Singapore3
Molecular analysis of BRCA1 and BRCA2 genes in La Rioja (Spain): five new variants2
Meeting abstracts from the Annual Conference “Clinical Genetics of Cancer 2023”2
Current prospects of hereditary adrenal tumors: towards better clinical management2
Mutations in Helicobacter pylori infected patients with chronic gastritis, intestinal type of gastric cancer and familial gastric cancer2
Multiple endocrine neoplasia type 1: a new germline “homozygous” variant (c.201delC) caused by detection errors2
Overview on population screening for carriers with germline mutations in mismatch repair (MMR) genes in China2
Clinical challenges in interpreting multiple pathogenic mutations in single patients2
Diagnosis of patients with Lynch syndrome lacking the Amsterdam II or Bethesda criteria2
Cytotoxic and targeted therapy for BRCA1/2-driven cancers2
Two independent families with de novo whole APC gene deletion and intellectual disability: a case report2
Pregnancy after breast cancer in BRCA1/2 mutation carriers2
Gastrointestinal manifestations in patients with gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS): a systematic review with analysis of individual patient data1
Danish guidelines for management of non-APC-associated hereditary polyposis syndromes1
Identifying patients with Lynch syndrome using a universal tumor screening program in an integrated healthcare system1
Room for improvement: One third of Lynch syndrome patients presenting for genetic testing in a highly specialised centre in Stockholm already have cancer1
BRCA2 germline mutation carrier with five malignancies: a case report1
PMS2 mutation spectra in Norway and risk of cancer for carriers of pathogenic variants1
Genetic testing for hereditary breast cancer in Poland: 1998–20221
Statewide trends and factors associated with genetic testing for hereditary cancer risk in Arkansas 2013–20181
Progression of duodenal neoplasia to advanced adenoma in patients with familial adenomatous polyposis1
Can harmful lifestyle, obesity and weight changes increase the risk of breast cancer in BRCA 1 and BRCA 2 mutation carriers? A Mini review1
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
Expanding the phenotype of E318K (c.952G > A) MITF germline mutation carriers: case series and review of the literature1
Significant detection of new germline pathogenic variants in Australian Pancreatic Cancer Screening Program participants1
Germline HOXB13 mutation p.G84E do not confer an increased bladder or kidney cancer risk in polish population1
Frequency of BRCA1 and BRCA2 mutations in ovarian cancer patients in South-East Poland1
Unusual course of disease and genetic profile in Li-Fraumeni syndrome-associated osteosarcoma – a case report1
The prevalence of lynch syndrome (DNA mismatch repair protein deficiency) in patients with primary localized prostate cancer using immunohistochemistry screening1
Literacy-adapted, electronic family history assessment for genetics referral in primary care: patient user insights from qualitative interviews1
CDKN2A germline alterations and the relevance of genotype-phenotype associations in cancer predisposition1
Women’s perceptions of PERSPECTIVE: a breast cancer risk stratification e-platform1
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