An Emerging Paradigm for Germline Testing in Pancreatic Ductal Adenocarcinoma and Immediate Implications for Clinical Practice: A Review.
Sign Up to like & getrecommendations! Published in 2020 at "JAMA oncology"
DOI: 10.1001/jamaoncol.2019.5963
Abstract: Importance Pancreatic ductal adenocarcinoma (PDAC) is a malignant neoplasm with a rising incidence and is a leading public health challenge. Pancreatic ductal adenocarcinoma has been well characterized genomically, with findings of therapeutic actionability that have… read more here.
Keywords: ductal adenocarcinoma; pancreatic ductal; implications clinical; germline ... See more keywords
Mutational analysis of the functional motifs of the DEAD-box RNA helicase Me31B/DDX6 in Drosophila germline development.
Sign Up to like & getrecommendations! Published in 2023 at "FEBS letters"
DOI: 10.1002/1873-3468.14668
Abstract: Me31B/DDX6 is a DEAD-box family RNA helicase playing roles in post-transcriptional RNA regulation in different cell types and species. Despite the known motifs/domains of Me31B, the in vivo functions of the motifs remain unclear. Here,… read more here.
Keywords: me31b ddx6; rna helicase; germline; dead box ... See more keywords
Comprehensive profiling of pathogenic germline large genomic rearrangements in a pan-cancer analysis.
Sign Up to like & getrecommendations! Published in 2023 at "Molecular oncology"
DOI: 10.1002/1878-0261.13430
Abstract: The presence of large genomic rearrangements (LGRs) has been heavily investigated in breast and ovarian cancer. However, correlations between LGRs and cancer types beyond these two have not been extensively profiled, likely due to the… read more here.
Keywords: germline; pathogenic germline; lgrs; cancer types ... See more keywords
A Germline‐Specific Regulator of Mitochondrial Fusion is Required for Maintenance and Differentiation of Germline Stem and Progenitor Cells
Sign Up to like & getrecommendations! Published in 2022 at "Advanced Science"
DOI: 10.1002/advs.202203631
Abstract: Maintenance and differentiation of germline stem and progenitor cells (GSPCs) is important for sexual reproduction. Here, the authors identify zebrafish pld6 as a novel germline‐specific gene by cross‐analyzing different RNA sequencing results, and find that… read more here.
Keywords: maintenance differentiation; germline specific; mitochondrial fusion; germline ... See more keywords
Somatic cancers: Hijacking germ cell immortality tools
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DOI: 10.1002/bies.202200212
Abstract: Germ cells are – arguably – the most fascinating and important cells in our bodies, as they pass their genomes from one generation to another thus establishing an immortal germline. To ensure this mission, germ… read more here.
Keywords: germ cell; cell; germ; germline ... See more keywords
Breast cancer in East Africa: Prevalence and spectrum of germline SNV/indel and CNVs in BRCA1 and BRCA2 genes among breast cancer patients in Tanzania
Sign Up to like & getrecommendations! Published in 2022 at "Cancer Medicine"
DOI: 10.1002/cam4.5091
Abstract: Growing prevalence and aggressiveness of breast cancer (BC) among East African women strongly indicate that the genetic risk factor implicated in the etiology of the disease may have a key role. Germline pathogenic variants in… read more here.
Keywords: germline; prevalence; brca1 brca2; breast cancer ... See more keywords
Germline mutations of renal cancer predisposition genes and clinical relevance in Chinese patients with sporadic, early‐onset disease
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DOI: 10.1002/cncr.31908
Abstract: An inherited susceptibility to renal cancers is associated with multiple predisposing genes, but most screening tests are limited to patients with a family history. Next‐generation sequencing (NGS)–based multigene panels provide an efficient and adaptable tool… read more here.
Keywords: mutations renal; cancer predisposition; germline; germline mutations ... See more keywords
Generation and characterization of a Ddx4‐iCre transgenic line for deletion in the germline beginning at genital ridge colonization
Sign Up to like & getrecommendations! Published in 2023 at "genesis"
DOI: 10.1002/dvg.23511
Abstract: Germline‐specific Cre lines are useful for analyses of primordial germ cell, spermatogonial and oogonial development, but also for whole‐body deletions when transmitted through subsequent generations. Several germ cell specific Cre mouse strains exist, with various… read more here.
Keywords: icre; deletion; germline; ddx4 ... See more keywords
Rare germline variants in PALB2 and BRCA2 in familial and sporadic chordoma
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DOI: 10.1002/humu.24427
Abstract: Chordoma is a rare bone tumor with genetic risk factors largely unknown. We conducted a whole‐exome sequencing (WES) analysis of germline DNA from 19 familial chordoma cases in five pedigrees and 137 sporadic chordoma patients… read more here.
Keywords: germline variants; palb2 brca2; germline; chordoma ... See more keywords
Germline selection of PTPN11 (HGNC:9644) variants make a major contribution to both Noonan syndrome's high birth rate and the transmission of sporadic cancer variants resulting in fetal abnormality
Sign Up to like & getrecommendations! Published in 2022 at "Human Mutation"
DOI: 10.1002/humu.24493
Abstract: Some spontaneous germline gain‐of‐function mutations promote spermatogonial stem cell clonal expansion and disproportionate variant sperm production leading to unexpectedly high transmission rates for some human genetic conditions. To measure the frequency and spatial distribution of… read more here.
Keywords: hgnc 9644; ptpn11 hgnc; germline; germline selection ... See more keywords
The CHK2 kinase is recurrently mutated and functionally impaired in the germline of pediatric cancer patients
Sign Up to like & getrecommendations! Published in 2022 at "International Journal of Cancer"
DOI: 10.1002/ijc.34390
Abstract: Predisposing CHEK2 germline variants are associated with various adult‐type malignancies, whereas their impact on cancer susceptibility in childhood cancer is unclear. To understand the frequency of germline variants in the CHEK2 gene and their impact… read more here.
Keywords: pediatric cancer; germline; cancer patients; chek2 variants ... See more keywords