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Academic Journal

A novel germline Pregnane X Receptor (PXR) variant predisposing to Hodgkin lymphoma in two siblings.

  • Authors : Khodzhaev K; Genetics Department, Aziz Sancar Institute of Experimental Medicine, Istanbul University, Istanbul, Türkiye; Institute of Health Science, Istanbul University, Istanbul, Türkiye.

Subjects: Pregnane X Receptor*/Pregnane X Receptor*/Pregnane X Receptor*/genetics ; Pregnane X Receptor*/Pregnane X Receptor*/Pregnane X Receptor*/metabolism ; Hodgkin Disease*/Hodgkin Disease*/Hodgkin Disease*/genetics

  • Source: European journal of medical genetics [Eur J Med Genet] 2024 Dec; Vol. 72, pp. 104975. Date of Electronic Publication: 2024 Sep 23.Publisher: Elsevier Country of Publication: Netherlands NLM ID: 101247089 Publication Model: Print-Electronic Cited Medium:

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Academic Journal

Novel CTR9 germline pathogenic splice site variant in siblings with Wilms tumor from Tanzania.

  • Authors : Iman A; Department of Pediatrics and Child Health, Kilimanjaro Christian Medical Centre, Box 3010, Moshi, Tanzania.; Majaliwa E

Subjects: Wilms Tumor*/Wilms Tumor*/Wilms Tumor*/genetics ; Wilms Tumor*/Wilms Tumor*/Wilms Tumor*/pathology ; Kidney Neoplasms*/Kidney Neoplasms*/Kidney Neoplasms*/genetics

  • Source: European journal of medical genetics [Eur J Med Genet] 2024 Dec; Vol. 72, pp. 104973. Date of Electronic Publication: 2024 Sep 16.Publisher: Elsevier Country of Publication: Netherlands NLM ID: 101247089 Publication Model: Print-Electronic Cited Medium:

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Academic Journal

Economic evaluation of extended panel analysis in cancer patients with historical NHS diagnostic germline genetic testing - A modeling study based on real-world data.

  • Authors : Xi Q; Primary Care Unit, Department of Public Health and Primary Care, University of Cambridge, Cambridge, United Kingdom. Electronic address: .; Patel R

Subjects: Genetic Testing*/Genetic Testing*/Genetic Testing*/economics ; Genetic Testing*/Genetic Testing*/Genetic Testing*/standards ; Genetic Testing*/Genetic Testing*/Genetic Testing*/methods

  • Source: European journal of medical genetics [Eur J Med Genet] 2024 Dec; Vol. 72, pp. 104969. Date of Electronic Publication: 2024 Sep 12.Publisher: Elsevier Country of Publication: Netherlands NLM ID: 101247089 Publication Model: Print-Electronic Cited Medium:

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Academic Journal

Real-world prevalence, treatment and survival of "high risk" early breast cancer, with mandatory testing of gBRCA1/2 mutation according to the OlympiA trial inclusion criteria: Data from a population-based registry.

  • Authors : Ladoire S; Department of Medical Oncology, Centre Georges-François Leclerc, 1 rue du Professeur Marion, 21000, Dijon, France; INSERM U1231, Université de Bourgogne, 21000, Dijon, France

Subjects: Breast Neoplasms*/Breast Neoplasms*/Breast Neoplasms*/genetics ; Breast Neoplasms*/Breast Neoplasms*/Breast Neoplasms*/drug therapy ; Breast Neoplasms*/Breast Neoplasms*/Breast Neoplasms*/mortality

  • Source: Breast (Edinburgh, Scotland) [Breast] 2024 Dec; Vol. 78, pp. 103789. Date of Electronic Publication: 2024 Aug 28.Publisher: Elsevier Country of Publication: Netherlands NLM ID: 9213011 Publication Model: Print-Electronic Cited Medium:

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Academic Journal

Biological and therapeutic implications of the cancer-related germline mutation landscape in lung cancer.

  • Authors : Panagiotou E; Third Department of Internal Medicine, Sotiria General Hospital for Chest Diseases, National and Kapodistrian University of Athens, Athens, Greece.; Vathiotis IA

Subjects: Germ-Line Mutation* ; Lung Neoplasms*/Lung Neoplasms*/Lung Neoplasms*/genetics ; Genetic Predisposition to Disease*

  • Source: The Lancet. Respiratory medicine [Lancet Respir Med] 2024 Dec; Vol. 12 (12), pp. 997-1005. Date of Electronic Publication: 2024 Jun 14.Publisher: Elsevier Country of Publication: England NLM ID: 101605555 Publication Model: Print-Electronic Cited Medium:

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Academic Journal

Germline variant profiling of CHEK2 sequencing variants in breast cancer patients.

  • Authors : McCarthy-Leo C; Center for Molecular Medicine and Genetics, Wayne State University School of Medicine, Detroit, MI, United States.; Baughan S

Subjects: Checkpoint Kinase 2*/Checkpoint Kinase 2*/Checkpoint Kinase 2*/genetics ; Breast Neoplasms*/Breast Neoplasms*/Breast Neoplasms*/genetics ; Germ-Line Mutation*

  • Source: Cancer genetics [Cancer Genet] 2024 Nov; Vol. 288-289, pp. 10-19. Date of Electronic Publication: 2024 Aug 23.Publisher: Elsevier Country of Publication: United States NLM ID: 101539150 Publication Model: Print-Electronic Cited Medium:

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Academic Journal

Parp-inhibitors in the therapeutic landscape of breast cancer patients with BRCA1 and BRCA2 pathogenic germline variants: An Italian consensus paper and critical review.

  • Authors : Zambelli A; Department of Biomedical Sciences, Humanitas University, Via Rita Levi Montalcini 4, 20090 Pieve Emanuele, Milan, Italy; Humanitas Clinical and Research Center-IRCCS, Humanitas Cancer Center, Via Manzoni 56, 20089 Rozzano, Milan, Italy.

Subjects: Poly(ADP-ribose) Polymerase Inhibitors*/Poly(ADP-ribose) Polymerase Inhibitors*/Poly(ADP-ribose) Polymerase Inhibitors*/therapeutic use ; Germ-Line Mutation* ; Breast Neoplasms*/Breast Neoplasms*/Breast Neoplasms*/drug therapy

  • Source: Cancer treatment reviews [Cancer Treat Rev] 2024 Nov; Vol. 130, pp. 102815. Date of Electronic Publication: 2024 Aug 21.Publisher: Elsevier Country of Publication: Netherlands NLM ID: 7502030 Publication Model: Print-Electronic Cited Medium:

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Academic Journal

The Cost-Effectiveness of Germline BReast CAncer Gene Testing in Metastatic Prostate Cancer Followed by Cascade Testing of First-Degree Relatives of Mutation Carriers.

  • Authors : Teppala S; Center for Applied Health Economics, Griffith University, Brisbane, QLD, Australia. Electronic address: .; Scuffham P

Subjects: Cost-Benefit Analysis* ; Genetic Testing*/Genetic Testing*/Genetic Testing*/economics ; Genetic Testing*/Genetic Testing*/Genetic Testing*/methods

  • Source: Value in health : the journal of the International Society for Pharmacoeconomics and Outcomes Research [Value Health] 2024 Nov; Vol. 27 (11), pp. 1515-1527. Date of Electronic Publisher: Elsevier Country of Publication: United States NLM ID: 100883818 Publication Model: Print-Electronic Cited Medium:

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Academic Journal

Germ line ERG haploinsufficiency defines a new syndrome with cytopenia and hematological malignancy predisposition.

  • Authors : Zerella JR; Centre for Cancer Biology, SA Pathology and University of South Australia, Adelaide, SA, Australia.; Adelaide Medical School, The University of Adelaide, Adelaide, SA, Australia.

Subjects: Transcriptional Regulator ERG*/Transcriptional Regulator ERG*/Transcriptional Regulator ERG*/genetics ; Haploinsufficiency* ; Germ-Line Mutation*

  • Source: Blood [Blood] 2024 Oct 24; Vol. 144 (17), pp. 1765-1780.Publisher: Elsevier Country of Publication: United States NLM ID: 7603509 Publication Model: Print Cited Medium: Internet

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Editorial & Opinion

Familial Lung Cancers Caused by EGFR Germline Mutations: The Frequency Is Probably Underestimated but Specific Genotypic Features and Some Particular Disease Characteristics Should Help Their Screening.

  • Authors : Pujol JL; Thoracic Oncology Unit, University Hospital of Montpellier, Montpellier University, France.; Erich Eberhardt WE

Subjects: Lung Neoplasms*/Lung Neoplasms*/Lung Neoplasms*/genetics ; Lung Neoplasms*/Lung Neoplasms*/Lung Neoplasms*/pathology ; Germ-Line Mutation*

  • Source: Journal of thoracic oncology : official publication of the International Association for the Study of Lung Cancer [J Thorac Oncol] 2024 Oct; Vol. 19 (10), pp. 1364-1366.Publisher: Elsevier Country of Publication: United States NLM ID: 101274235 Publication Model: Print Cited Medium:

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  • 1-10 of  1,150 results for ""Germ-Line Mutation""