Hereditary Cancer in Clinical Practice

Papers
(The TQCC of Hereditary Cancer in Clinical Practice is 4. 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
SMAD4 variants and its genotype–phenotype correlations to juvenile polyposis syndrome10
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
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
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
A genome-wide association study in Swedish colorectal cancer patients with gastric- and prostate cancer in relatives7
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
BRCA1/2 variants and copy number alterations status in non familial triple negative breast cancer and high grade serous ovarian cancer6
Reflex BRCA1 and BRCA2 tumour genetic testing for high-grade serous ovarian cancer: streamlined for clinicians but what do patients think?6
Unravelling genetic variants of a swedish family with high risk of prostate cancer5
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
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
“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
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