Factors Affecting Genetic Consultation in Adolescent and Young Adult Patients With Sarcoma

McKay, Grace E; Zakas, Anna; Osman, Fauzia; Parkes, Amanda

doi:10.6004/jnccn.2021.7034

Cited by 3 publications

(2 citation statements)

References 47 publications

(55 reference statements)

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“…Hereditary cancer syndromes are caused by pathogenic germline mutations in susceptible genes [3,4] . The identification of tumor susceptibility genes in hereditary tumor families can greatly promote individualized treatment and improve the quality life of cancer patients.…”

Section: Introductionmentioning

confidence: 99%

A novel RBBP8 (c.841G>T) germline mutation is a predisposition mutation in familial hereditary cancer syndrome

Yan

Wang

et al. 2023

Preprint

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Background: Screening tumor susceptibility genes will be found powerful biomarkers for hereditary cancer monitoring, prevention and diagnosis, which providing opportunities for understanding the potential molecular mechanism and biomarker for precise treatment of hereditary cancer syndromes. Methods: Whole blood exon sequencing and bioinformatics analysis uncovers a novel RBBP8 (c.841G>T) germline mutation in this familial hereditary cancer syndrome, and verified by sanger sequencing. Cell proliferation, clone formation, cell migration, in vivo tumorigenesis were investigated by CCK8, clone formation assays, transwell, in vivo xenograft. The protein localization and interaction were detected by immunofluorescence, nuclear and cytoplasmic protein extraction kit and Co-IP. Results: A new heterozygous germline mutation of RBBP8 (c.841G>T) gene was associated with familial hereditary cancer syndrome. Unlike RBBP8-WT is mainly detected in the nucleus and could interact with BRCA1. Opposite, RBBP8(c.841G>T) is mainly located in the cytoplasm and lost interact with BRCA1, which may gain some new functions in the cytoplasm to promote breast cancer proliferation, in vivo tumorigenesis and migration. Meanwhile, patients with RBBP8(c.841G>T) germline mutation maybe benefit from PARP inhibitors (Olaparib) and platinum (Cisplatin). Conclusions: A de novo RBBP8 (c.841G>T) germline mutation was identified from familial hereditary cancer syndrome. RBBP8 (c.841G>T) lost its ability to enter the nucleus and BRCA1 binding motif, which may gain some new functions to promote tumorigeneses in the cytoplasm. RBBP8 (c.841G>T) is a tumor susceptibility gene and candidate precision medicine biomarker in this familial hereditary cancer syndrome.

show abstract

Section: Introductionmentioning

confidence: 99%

A novel RBBP8 (c.841G>T) germline mutation is a predisposition mutation in familial hereditary cancer syndrome

Yan

Wang

et al. 2023

Preprint

View full text Add to dashboard Cite

show abstract

“…Combining molecular genetic testing techniques with the patient's family and clinical history, more and more patients were diagnosed with hereditary cancers syndromes. Hereditary cancer syndromes are caused by pathogenic germline mutations in susceptible genes [3,4] . The identi cation of tumor susceptibility genes in hereditary tumor families can greatly promote individualized treatment and improve the quality life of cancer patients.…”

Section: Introductionmentioning

confidence: 99%

A novel RBBP8(p.E281*) germline mutation is a predisposing mutation in familial hereditary cancer syndrome

Yan,

Wu,

Wang

et al. 2023

J Mol Med

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Background: Screening tumor susceptibility genes will be found powerful biomarkers for hereditary cancer monitoring, prevention and diagnosis, which providing opportunities for understanding the potential molecular mechanism and biomarker for precise treatment of hereditary cancer syndromes.Methods: Whole blood exon sequencing and bioinformatics analysis uncovers a novel RBBP8 (c.841G>T) germline mutation in this familial hereditary cancer syndrome, and veri ed by sanger sequencing. Cell proliferation, clone formation, cell migration, in vivo tumorigenesis were investigated by CCK8, clone formation assays, transwell, in vivo xenograft. The protein localization and interaction were detected by immuno uorescence, nuclear and cytoplasmic protein extraction kit and Co-IP .Results: A new heterozygous germline mutation of RBBP8 (c.841G>T) gene was associated with familial hereditary cancer syndrome. Unlike RBBP8-WT is mainly detected in the nucleus and could interact with BRCA1. Opposite, RBBP8(c.841G>T) is mainly located in the cytoplasm and lost interact with BRCA1, which may gain some new functions in the cytoplasm to promote breast cancer proliferation, in vivo tumorigenesis and migration. Meanwhile, patients with RBBP8(c.841G>T) germline mutation maybe bene t from PARP inhibitors (Olaparib) and platinum (Cisplatin).Conclusions: A de novo RBBP8 (c.841G>T) germline mutation was identi ed from familial hereditary cancer syndrome. RBBP8 (c.841G>T) lost its ability to enter the nucleus and the BRCA1 binding motif, which may gain some new functions to promote tumorigeneses in the cytoplasm. RBBP8 (c.841G>T) is a tumor susceptibility gene and candidate precision medicine biomarker in this familial hereditary cancer syndrome.

show abstract

A novel RBBP8 (c.841G>T) germline mutation is a predisposition mutation in familial hereditary cancer syndrome

Yan

Wang

et al. 2023

Preprint

View full text Add to dashboard Cite

Background: Screening tumor susceptibility genes will be found powerful biomarkers for hereditary cancer monitoring, prevention and diagnosis, which providing opportunities for understanding the potential molecular mechanism and biomarker for precise treatment of hereditary cancer syndromes. Methods: Whole blood exon sequencing and bioinformatics analysis uncovers a novel RBBP8 (c.841G>T) germline mutation in this familial hereditary cancer syndrome, and verified by sanger sequencing. Cell proliferation, clone formation, cell migration, in vivo tumorigenesis were investigated by CCK8, clone formation assays, transwell, in vivo xenograft. The protein localization and interaction were detected by immunofluorescence, nuclear and cytoplasmic protein extraction kit and Co-IP . Results: A new heterozygous germline mutation of RBBP8 (c.841G>T) gene was associated with familial hereditary cancer syndrome. Unlike RBBP8-WT is mainly detected in the nucleus and could interact with BRCA1. Opposite, RBBP8(c.841G>T) is mainly located in the cytoplasm and lost interact with BRCA1, which may gain some new functions in the cytoplasm to promote breast cancer proliferation, in vivo tumorigenesis and migration. Meanwhile, patients with RBBP8(c.841G>T) germline mutation maybe benefit from PARP inhibitors (Olaparib) and platinum (Cisplatin). Conclusions: A de novo RBBP8 (c.841G>T) germline mutation was identified from familial hereditary cancer syndrome. RBBP8 (c.841G>T) lost its ability to enter the nucleus and the BRCA1 binding motif, which may gain some new functions to promote tumorigeneses in the cytoplasm. RBBP8 (c.841G>T) is a tumor susceptibility gene and candidate precision medicine biomarker in this familial hereditary cancer syndrome.

show abstract

Factors Affecting Genetic Consultation in Adolescent and Young Adult Patients With Sarcoma

Cited by 3 publications

References 47 publications

A novel RBBP8 (c.841G>T) germline mutation is a predisposition mutation in familial hereditary cancer syndrome

A novel RBBP8 (c.841G>T) germline mutation is a predisposition mutation in familial hereditary cancer syndrome

A novel RBBP8(p.E281*) germline mutation is a predisposing mutation in familial hereditary cancer syndrome

A novel RBBP8 (c.841G>T) germline mutation is a predisposition mutation in familial hereditary cancer syndrome

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Factors Affecting Genetic Consultation in Adolescent and Young Adult Patients With Sarcoma

Cited by 3 publications

References 47 publications

A novel RBBP8 (c.841G&gt;T) germline mutation is a predisposition mutation in familial hereditary cancer syndrome

A novel RBBP8 (c.841G&gt;T) germline mutation is a predisposition mutation in familial hereditary cancer syndrome

A novel RBBP8(p.E281*) germline mutation is a predisposing mutation in familial hereditary cancer syndrome

A novel RBBP8 (c.841G&gt;T) germline mutation is a predisposition mutation in familial hereditary cancer syndrome

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A novel RBBP8 (c.841G>T) germline mutation is a predisposition mutation in familial hereditary cancer syndrome

A novel RBBP8 (c.841G>T) germline mutation is a predisposition mutation in familial hereditary cancer syndrome

A novel RBBP8 (c.841G>T) germline mutation is a predisposition mutation in familial hereditary cancer syndrome