Current prospects of hereditary adrenal tumors: towards better clinical management
AbstractAdrenocortical carcinoma (ACC) and pheochromocytoma/paraganglioma (PPGL) are two rare types of adrenal gland malignancies. Regarding hereditary tumors, some patients with ACC are associated with with Li-Fraumeni syndrome (LFS), and those with PPGL with multiple endocrine neoplasia type 2. Recent studies have expanded this spectrum to include other types of hereditary tumors, such as Lynch syndrome or familial adenomatous polyposis. Individuals harboring germlineTP53 pathogenic variants that cause LFS have heterogeneous phenotypes depending on the respective variant type. As an example, R337H variant found in Brazil...
Source: Hereditary Cancer in Clinical Practice - March 26, 2024 Category: Cancer & Oncology Source Type: research

Preoperative multimodal ultrasonic imaging in a case of Peutz-Jeghers syndrome complicated by atypical lobular endocervical glandular hyperplasia: a case report and literature review
ConclusionsMultimodal ultrasound can visualize morphological features, solid components inside, and blood supplies of the G-EAC lesion and distinguish the G-EAC lesion from normal adjacent tissues. This facilitates preoperative diagnosis and staging of PJS-related G-EAC, thereby aiding subsequent health and reproductive management for patients with PJS. (Source: Hereditary Cancer in Clinical Practice)
Source: Hereditary Cancer in Clinical Practice - February 28, 2024 Category: Cancer & Oncology Source Type: research

Primary fallopian tube cancer followed by primary breast cancer in RAD51C mutation carrier treated with niraparib as first line maintenance therapy: a case report
We report the case of a 65-year-old woman diagnosed with stage IIIC high-grade serous primary fallopian tube cancer. The patient had no family history of breast or ovarian cancer. The patient received three cycles of neoadjuvant chemotherapy with paclitaxel and carboplatin and achieved a complete response. After interval debulking surgery, the patient received three cycles of adjuvant chemotherapy. Collection and extraction of saliva DNA for next-generation sequencing identified a RAD51C mutation c.838-2  A >  G. The patient received niraparib as front-line maintenance treatment. After 36 months of niraparib treatm...
Source: Hereditary Cancer in Clinical Practice - February 15, 2024 Category: Cancer & Oncology Source Type: research

Li-Fraumeni syndrome presenting with de novo TP53 mutation, severe phenotype and advanced paternal age: a case report
ConclusionsAdvanced paternal age is a risk factor to consider when hereditary cancer syndrome is suspected. Early detection of hereditary cancer syndromes and their multi-disciplinary surveillance and treatment is important to improve clinical outcomes for these patients. Further investigation of the relationship between the pathogenic variant ofTP53 and its phenotype may guide the stratification of surveillance and treatment. (Source: Hereditary Cancer in Clinical Practice)
Source: Hereditary Cancer in Clinical Practice - January 18, 2024 Category: Cancer & Oncology Source Type: research

Experiences of patients and family members with follow-up care, information needs and provider support after identification of Lynch Syndrome
ConclusionsProbands and family members receiving genetic testing for Lynch Syndrome generally adhered to initial screening and surveillance recommendations. However, factors such as insurance coverage and difficulty finding a knowledgeable healthcare provider presented barriers to receiving recommended follow-up care. There is an opportunity to improve care through better transitions in care, procedures to keep primary care providers informed of surveillance guidelines, and practices so that patients receive reminders and facilitated appointment setting for ongoing screening and surveillance at the time they are due. (Sour...
Source: Hereditary Cancer in Clinical Practice - December 19, 2023 Category: Cancer & Oncology Source Type: research

SMAD4 variants and its genotype –phenotype correlations to juvenile polyposis syndrome
ConclusionTruncating and missense variants around the MH2 region of SMAD4 are most prevalent and pathogenic, thus should undergo careful surveillance. Given association with extracolonic polyposis and higher GI cancer risk, endoscopic screening should occur more frequently and at an earlier age in SMAD4  + JPS patients than in patients with other causative genes, with consideration of Ménétrier’s disease on upper GI endoscopy. In addition, HHT should be evaluated within 6 months of diagnosis, alongside targeted clinical examination for extraintestinal manifestations associated with SMAD4  + JPS. This review ma...
Source: Hereditary Cancer in Clinical Practice - December 8, 2023 Category: Cancer & Oncology Source Type: research

Choices for cancer prevention for women with a BRCA1 mutation? a personal view
AbstractWith widespread testing for susceptibility genes, increasing numbers of women are being identified to carry a mutation in one of many genes which renders them susceptible to cancer. The first gene to be identified (in 1994) wasBRCA1 which increases a woman ’s risk for breast cancer (70%) and ovarian cancer (40%). The prevalence ofBRCA1 gene mutations has been studied widely and in many countries, mostly in women affected with cancer. In many settings testing is offered routinely to women with serous ovarian cancer or early-onset or triple-negative breast cancer. It is preferable to identify a mutation in a health...
Source: Hereditary Cancer in Clinical Practice - November 29, 2023 Category: Cancer & Oncology Source Type: research

Progression of duodenal neoplasia to advanced adenoma in patients with familial adenomatous polyposis
ConclusionsNADAs in patients with FAP frequently become exacerbated. Our findings suggest that patients with FAP who develop duodenal adenomas should be surveyed to prevent the development of duodenal cancer. (Source: Hereditary Cancer in Clinical Practice)
Source: Hereditary Cancer in Clinical Practice - November 27, 2023 Category: Cancer & Oncology Source Type: research

“Go ahead and screen” - advice to healthcare systems for routine lynch syndrome screening from interviews with newly diagnosed colorectal cancer patients
ConclusionOur qualitative findings demonstrate patients with CRC have a strong desire for healthcare systems to regularly implement and offer UTS. Patients offer key insights for health systems to guide future implementation and optimization of UTS and other LS screening programs and maximize diagnosis of individuals with LS and improve cancer-related surveillance and outcomes.Trial registrationNot available: not a clinical trial. (Source: Hereditary Cancer in Clinical Practice)
Source: Hereditary Cancer in Clinical Practice - November 17, 2023 Category: Cancer & Oncology Source Type: research

Simultaneous bilateral mastectomy and RRSO for BRCA2-positive non-invasive breast cancer in Japan: a case report and analysis of initial experience
ConclusionsWe encountered a case in which cancer treatment and risk-reducing surgery were performed at the same time for a pathogenic variant carrier who was very anxious about developing cancer. Surveillance of cancer-freeBRCA1/2 mutation carriers and expansion of insurance coverage for surgery are important future issues. (Source: Hereditary Cancer in Clinical Practice)
Source: Hereditary Cancer in Clinical Practice - November 13, 2023 Category: Cancer & Oncology Source Type: research

Prevalence of BRCA1 and BRCA2 germline variants in an unselected pancreatic cancer patient cohort in Pakistan
ConclusionsIn this first study,BRCA1/2 pathogenic variant is identified with a low frequency in pancreatic cancer patients from Pakistan. Comprehensive multigene panel testing is recommended in the Pakistani pancreatic cancer patients to enhance genetic understanding in this population. (Source: Hereditary Cancer in Clinical Practice)
Source: Hereditary Cancer in Clinical Practice - November 11, 2023 Category: Cancer & Oncology Source Type: research

Diagnosis of patients with Lynch syndrome lacking the Amsterdam II or Bethesda criteria
ConclusionUniversal screening could be an option to address the problem of underdiagnosis. (Source: Hereditary Cancer in Clinical Practice)
Source: Hereditary Cancer in Clinical Practice - October 20, 2023 Category: Cancer & Oncology Source Type: research

The prevalence of lynch syndrome (DNA mismatch repair protein deficiency) in patients with primary localized prostate cancer using immunohistochemistry screening
ConclusionsIn this study, immunohistochemical screening of MMR proteins for Lynch syndrome was performed in a series of prostate cancer cases. The prevalence of Lynch syndrome in localized prostate cancer was 0.8%, which is low compared with other Lynch syndrome-associated cancers. (Source: Hereditary Cancer in Clinical Practice)
Source: Hereditary Cancer in Clinical Practice - October 12, 2023 Category: Cancer & Oncology Source Type: research

Dominantly inherited micro-satellite instable cancer – the four Lynch syndromes - an EHTG, PLSD position statement
AbstractThe recognition of dominantly inherited micro-satellite instable (MSI) cancers caused by pathogenic variants in one of the four mismatch repair (MMR) genesMSH2, MLH1, MSH6 andPMS2 has modified our understanding of carcinogenesis. Inherited loss of function variants in each of theseMMR genes cause four dominantly inherited cancer syndromes with different penetrance and expressivities: the four Lynch syndromes. No person has an “average sex “or a pathogenic variant in an “average Lynch syndrome gene” and results that are not stratified by gene and sex will be valid for no one. Carcinogenesis may be a linear p...
Source: Hereditary Cancer in Clinical Practice - October 11, 2023 Category: Cancer & Oncology Source Type: research

Periampullary tumors in a patient with pancreatic divisum and neurofibromatosis type 1: a case report
ConclusionThe first similar case was reported in 2020. The current case was distinct from other cases since an additional twoNF1 mutations were found in the patient. In conjunction with prior case reports, our findings imply that genetic testing in patients diagnosed with neurofibromatosis type 1 could be helpful in the development of effective treatments. (Source: Hereditary Cancer in Clinical Practice)
Source: Hereditary Cancer in Clinical Practice - September 29, 2023 Category: Cancer & Oncology Source Type: research