Complete histopathologic examination of risk reduction gastrectomy specimens for CDH1 germline mutation: Is it warranted in routine clinical practice?
Sign Up to like & getrecommendations! Published in 2020 at "Annals of diagnostic pathology"
DOI: 10.1016/j.anndiagpath.2020.151473
Abstract: AIMS CDH1 germline mutation is associated with high penetrance of hereditary diffuse gastric cancer (HDGC). Due to the lack of endoscopically identifiable lesions, routine surveillance is ineffective in the early detection of gastric cancer, and… read more here.
Keywords: germline mutation; examination; risk reduction; gastrectomy ... See more keywords
Germline mutation rates in young adults predict longevity and reproductive lifespan
Sign Up to like & getrecommendations! Published in 2020 at "Scientific Reports"
DOI: 10.1038/s41598-020-66867-0
Abstract: Ageing may be due to mutation accumulation across the lifespan, leading to tissue dysfunction, disease, and death. We tested whether germline autosomal mutation rates in young adults predict their remaining survival, and, for women, their… read more here.
Keywords: germline mutation; mutation; mutation accumulation; mutation rates ... See more keywords
Olaparib combined with immunotherapy for treating a patient with liver cancer carrying BRCA2 germline mutation
Sign Up to like & getrecommendations! Published in 2020 at "Medicine"
DOI: 10.1097/md.0000000000022312
Abstract: Abstract Rationale: Immunotherapy and targeted therapy have attracted widespread attention in current clinical research, which could be considered as a good therapeutic option for treatment of refractory liver cancer. Patient concerns: The patient was a… read more here.
Keywords: brca2 germline; germline mutation; liver cancer; cancer ... See more keywords
Gray Zone Lymphoma Arising in the Neck of a Teenager With a Germline Mutation in TP53.
Sign Up to like & getrecommendations! Published in 2018 at "Journal of Pediatric Hematology/Oncology"
DOI: 10.1097/mph.0000000000001308
Abstract: Gray zone lymphoma is an aggressive disease for which appropriate management is still debated. We report a 15-year-old girl with a cervical mass, an enlarged ipsilateral tonsil, and anemia. Both sites showed hypermetabolism on F18-FG… read more here.
Keywords: germline mutation; gray zone; zone lymphoma; mutation tp53 ... See more keywords
Relationship among ETV1 genetic polymorphisms, PFS, and microRNA in gastrointestinal stromal tumors.
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Clinical Oncology"
DOI: 10.1200/jco.2019.37.15_suppl.e22513
Abstract: e22513 Background: In order to evaluate the pharmacokinetic and pharmacogenomic determinants for prognosis of gastrointestinal stromal tumor (GIST). It is necessary to explore a biological predictors to predict and optimal therapeutic strategy. But there were… read more here.
Keywords: germline mutation; genetic polymorphisms; etv1 genetic; gastrointestinal stromal ... See more keywords
Pancreatic cancer germline mutation report: An in-depth analysis of demographics, mutation profile, and patient survival.
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Clinical Oncology"
DOI: 10.1200/jco.2022.40.16_suppl.e16233
Abstract: e16233 Background: Germline genetic testing is now recommended for patients with pancreatic ductal adenocarcinoma (PDAC). We explored whether attributes of testing, such as uptake fraction and rate, were associated with various clinical features. Here we… read more here.
Keywords: germline testing; germline; analysis; germline mutation ... See more keywords
TP53 p.Arg337His germline mutation prevalence in Southern Brazil: Further evidence for mutation testing in young breast cancer patients
Sign Up to like & getrecommendations! Published in 2018 at "PLoS ONE"
DOI: 10.1371/journal.pone.0209934
Abstract: Premenopausal breast cancer (BC) is a core tumor of Li-Fraumeni (LFS) and Li-Fraumeni-like (LFL) Syndromes, predisposition disorders caused by germline mutations in TP53 gene. In the Southern and Southeastern regions of Brazil, a specific TP53… read more here.
Keywords: germline mutation; tp53 arg337his; mutation testing; breast cancer ... See more keywords
A case of juvenile-onset pheochromocytoma with KIF1B p.V1529M germline mutation.
Sign Up to like & getrecommendations! Published in 2022 at "Endocrine journal"
DOI: 10.1507/endocrj.ej21-0475
Abstract: In 2008, a familial noradrenergic pheochromocytoma (PCC) with a KIF1B germline mutation in exon 41 was reported in a 24-year-old female proband and her family. However, in 2020, the same research group reported that the… read more here.
Keywords: juvenile onset; mutation; kif1b v1529m; germline mutation ... See more keywords
Bladder paraganglioma, gastrointestinal stromal tumor, and SDHB germline mutation in a patient with Carney-Stratakis syndrome: A case report and literature review
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Oncology"
DOI: 10.3389/fonc.2022.1030092
Abstract: Background Carney-Stratakis syndrome (CSS) is a rare dyad of paraganglioma (PGL)/pheochromocytoma (PHEO) and gastrointestinal stromal tumor (GIST). PGLs are neuroendocrine tumors of neural crest origin which are mostly found in the head, neck, and retroperitoneal… read more here.
Keywords: bladder; patient; germline mutation; case ... See more keywords
High Prevalence of Alterations in DNA Mismatch Repair Genes of Lynch Syndrome in Pediatric Patients with Adrenocortical Tumors Carrying a Germline Mutation on TP53
Sign Up to like & getrecommendations! Published in 2020 at "Cancers"
DOI: 10.3390/cancers12030621
Abstract: Adrenocortical cancer is a rare malignant neoplasm associated with a dismal prognosis. Identification of the molecular pathways involved in adrenal tumorigenesis is essential for a better understanding of the disease mechanism and improvement of its… read more here.
Keywords: germline mutation; patients adrenocortical; lynch syndrome; prevalence ... See more keywords
Retinoblastoma in twins: Risk assessment of genotypic variants
Sign Up to like & getrecommendations! Published in 2021 at "Indian Journal of Ophthalmology"
DOI: 10.4103/ijo.ijo_2811_20
Abstract: Purpose: To describe methods of risk assessment in twins with retinoblastoma (RB). Methods: A case series of four RB probands with a twin sibling. Family status, clinical presentation, and RB1 germline status-based risk assessment were… read more here.
Keywords: status; risk assessment; germline; germline mutation ... See more keywords