Advanced Search Results For "Germ-Line Mutation"
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Evolution of the germline mutation rate across vertebrates.
Publication Type: Academic Journal
Source(s): Nature [Nature] 2023 Mar; Vol. 615 (7951), pp. 285-291. Date of Electronic Publication: 2023 Mar 01.
Abstract: The germline mutation rate determines the pace of genome evolution and is an evolving parameter itself 1 . However, little is known about what determines its evolution, as most studies of mutation rates have focused on single species with different met...
Evaluation of inherited germline mutations in cancer susceptibility genes among pancreatic cancer patients: a single-center study.
Publication Type: Academic Journal
Source(s): Molecular medicine (Cambridge, Mass.) [Mol Med] 2023 Jan 30; Vol. 29 (1), pp. 14. Date of Electronic Publication: 2023 Jan 30.
Abstract: Background: Germline mutations in cancer susceptibility genes were identified in pancreatic cancer (PanC) patients with a sporadic disease and in those unselected for family cancer history.Methods: With the aim to determine the prevalence of germline p...
NBN Pathogenic Germline Variants are Associated with Pan-Cancer Susceptibility and In Vitro DNA Damage Response Defects.
Publication Type: Academic Journal
Source(s): Clinical cancer research : an official journal of the American Association for Cancer Research [Clin Cancer Res] 2023 Jan 17; Vol. 29 (2), pp. 422-431.
Abstract: Purpose: To explore the role of NBN as a pan-cancer susceptibility gene.Experimental Design: Matched germline and somatic DNA samples from 34,046 patients were sequenced using Memorial Sloan Kettering-Integrated Mutation Profiling of Actionable Cancer ...
Short and long-term outcomes of prophylactic total gastrectomy in 54 consecutive individuals with germline pathogenic mutations in the CDH1 gene.
Publication Type: Academic Journal
Source(s): Journal of surgical oncology [J Surg Oncol] 2022 Dec; Vol. 126 (8), pp. 1413-1422. Date of Electronic Publication: 2022 Sep 05.
Abstract: Background: Germline mutation of CDH1 is rare and leads to hereditary diffuse gastric cancer (DGC).Methods: Patients (pts) with CDH1 mutation who underwent multidisciplinary counseling followed by open prophylactic total gastrectomy (PTG) by a single s...
Rare MYC-N11S germline mutation indicative of inherited breast cancer in a multigeneration family.
Publication Type: Academic Journal
Source(s): BMJ case reports [BMJ Case Rep] 2022 Nov 11; Vol. 15 (11). Date of Electronic Publication: 2022 Nov 11.
Abstract: We present a case of unexplained familial breast cancer (BC) from six family members, including four affected and two unaffected women, for whom clinical genetic testing panels were inconclusive. Exome sequencing data revealed heterozygous and rare ger...
Characteristics of BRCA2 Mutated Prostate Cancer at Presentation.
Publication Type: Academic Journal
Source(s): International journal of molecular sciences [Int J Mol Sci] 2022 Nov 03; Vol. 23 (21). Date of Electronic Publication: 2022 Nov 03.
Abstract: Genetic alterations of DNA repair genes, particularly BRCA2 in patients with prostate cancer, are associated with aggressive behavior of the disease. It has reached consensus that somatic and germline tests are necessary when treating advanced prostate...
The correlation between multiple congenital anomalies hypotonia seizures syndrome 2 and PIGA: a case of novel PIGA germline variant and literature review.
Publication Type: Academic Journal
Source(s): Molecular biology reports [Mol Biol Rep] 2022 Nov; Vol. 49 (11), pp. 10469-10477. Date of Electronic Publication: 2022 Sep 18.
Abstract: Background: PIGA (PIG class A) gene codes for the PIG-A protein, which is a catalytic subunit of GPI-GlcNAc transferase. GPI-anchored proteins play an important role in the metabolism of mammals. Somatic variants of PIGA genes in bone marrow hematopoie...
Prognostic significance of pathogenic variants in BRCA1, BRCA2, ATM and PALB2 genes in men undergoing hormonal therapy for advanced prostate cancer.
Publication Type: Academic Journal
Source(s): British journal of cancer [Br J Cancer] 2022 Nov; Vol. 127 (9), pp. 1680-1690. Date of Electronic Publication: 2022 Aug 19.
Abstract: Background: The prognostic significance of germline variants in homologous recombination repair genes in advanced prostate cancer (PCa), especially with regard to hormonal therapy, remains controversial.Methods: Germline DNA from 549 Japanese men with ...
Somatic mutations in rheumatological diseases: VEXAS syndrome and beyond.
Publication Type: Academic Journal
Source(s): Rheumatology (Oxford, England) [Rheumatology (Oxford)] 2022 Aug 03; Vol. 61 (8), pp. 3149-3160.
Abstract: Discovery of the VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome demonstrates that somatic mutations in haematological precursor cells can cause adult-onset, complex inflammatory disease. Unlike germline mutations, somatic mut...
A paternal bias in germline mutation is widespread in amniotes and can arise independently of cell division numbers.
Publication Type: Academic Journal
Source(s): ELife [Elife] 2022 Aug 02; Vol. 11. Date of Electronic Publication: 2022 Aug 02.
Abstract: In humans and other mammals, germline mutations are more likely to arise in fathers than in mothers. Although this sex bias has long been attributed to DNA replication errors in spermatogenesis, recent evidence from humans points to the importance of m...