<i>BRCA2</i> Haploinsufficiency in Telomere Maintenance

<i>BRCA2</i> Haploinsufficiency in Telomere Maintenance

Our previous studies showed an association between monoallelic <i>BRCA2</i> germline mutations and dysfunctional telomeres in epithelial mammary cell lines and increased risk of breast cancer diagnosis for women with <i>BRCA2 999del5</i> germline mutation and short telomeres...

Full description

Bibliographic Details
Main Authors:	Soffía R. Gunnarsdottir, Hördur Bjarnason, Birna Thorvaldsdottir, Felice Paland, Margrét Steinarsdottir, Jórunn E. Eyfjörd, Sigrídur K. Bödvarsdottir
Format:	Article
Language:	English
Published:	MDPI AG 2021-12-01
Series:	Genes
Subjects:	<i>BRCA2</i> telomere haploinsufficiency Fanconi anemia chromosomal instability
Online Access:	https://www.mdpi.com/2073-4425/13/1/83

Similar Items

Fanconi Anaemia, Childhood Cancer and the <i>BRCA</i> Genes
by: Emma R. Woodward, et al.
Published: (2021-09-01)

Exploiting Synthetic Lethality between Germline BRCA1 Haploinsufficiency and PARP Inhibition in JAK2V617F-Positive Myeloproliferative Neoplasms
by: Max Bermes, et al.
Published: (2023-12-01)

Predominance of <i>BRCA2</i> Mutation and Estrogen Receptor Positivity in Unselected Breast Cancer with <i>BRCA1</i> or <i>BRCA2</i> Mutation
by: Pascal Pujol, et al.
Published: (2022-07-01)

Acid-specific formaldehyde donor is a potential, dual targeting cancer chemotherapeutic/chemo preventive drug for FANC/BRCA-mutant cancer
by: John R. Ridpath, et al.
Published: (2019-12-01)

<i>BRCA1</i> and <i>BRCA2</i> Gene Mutations and Lung Cancer Sisk: A Meta-Analysis
by: Yen-Chien Lee, et al.
Published: (2020-04-01)

Comparing Prognosis for <i>BRCA1</i>, <i>BRCA2</i>, and Non-BRCA Breast Cancer
by: Pedro Antunes Meireles, et al.
Published: (2023-12-01)

Double Heterozygosity for Rare Deleterious Variants in the <i>BRCA1</i> and <i>BRCA2</i> Genes in a Hungarian Patient with Breast Cancer
by: László Madar, et al.
Published: (2023-10-01)

Disequilibrium between <i>BRCA1</i> and <i>BRCA2</i> Circular and Messenger RNAs Plays a Role in Breast Cancer
by: Corentin Levacher, et al.
Published: (2023-04-01)

<i>BRCA1</i> and Metastasis: Outcome of Defective DNA Repair
by: Rehna Krishnan, et al.
Published: (2021-12-01)

Transcriptome Patterns of <i>BRCA1</i>- and <i>BRCA2</i>- Mutated Breast and Ovarian Cancers
by: Arsen Arakelyan, et al.
Published: (2021-01-01)

No Association of Early-Onset Breast or Ovarian Cancer with Early-Onset Cancer in Relatives in <i>BRCA1</i> or <i>BRCA2</i> Mutation Families
by: Marion Imbert-Bouteille, et al.
Published: (2021-07-01)

<i>BRCA</i> Mutations and Breast Cancer Prevention
by: Joanne Kotsopoulos
Published: (2018-12-01)

BRACNAC: A <i>BRCA1</i> and <i>BRCA2</i> Copy Number Alteration Caller from Next-Generation Sequencing Data
by: Andrey Kechin, et al.
Published: (2023-11-01)

Pathogenic <i>BRCA</i> Variants as Biomarkers for Risk in Prostate Cancer
by: Ciara S. McNevin, et al.
Published: (2021-11-01)

Lack of impact of the ALDH2 rs671 variant on breast cancer development in Japanese BRCA1/2‐mutation carriers
by: Tomoharu Mori, et al.
Published: (2023-03-01)

<i>Hops/Tmub1</i> Heterozygous Mouse Shows Haploinsufficiency Effect in Influencing p53-Mediated Apoptosis
by: Simona Ferracchiato, et al.
Published: (2021-07-01)

Frequency of Germline and Somatic <i>BRCA1</i> and <i>BRCA2</i> Mutations in Prostate Cancer: An Updated Systematic Review and Meta-Analysis
by: Anna Amela Valsecchi, et al.
Published: (2023-04-01)

Mutations of <i>BRCA1</i>, <i>BRCA2</i>, and <i>PALB2</i> Genes in Breast Tumor Tissue: Relationship with the Effectiveness of Neoadjuvant Chemotherapy and Disease Prognosis
by: Matvey M. Tsyganov, et al.
Published: (2023-07-01)

Multitumor Case Series of Germline <i>BRCA1</i>, <i>BRCA2</i> and <i>CHEK2</i>-Mutated Patients Responding Favorably on Immune Checkpoint Inhibitors
by: Lisa Kinget, et al.
Published: (2021-08-01)

Characterization of BRCA Deficiency in Ovarian Cancer
by: Giovanna Barbero, et al.
Published: (2023-02-01)

Real-World Concordance between Germline and Tumour <i>BRCA1/2</i> Status in Epithelial Ovarian Cancer
by: Robert D. Morgan, et al.
Published: (2023-12-01)

Recurrent Mutations in <i>BRCA1</i>, <i>BRCA2</i>, <i>RAD51C</i>, <i>PALB2</i> and <i>CHEK2</i> in Polish Patients with Ovarian Cancer
by: Alicja Łukomska, et al.
Published: (2021-02-01)

Non-Coding Variants in <i>BRCA1</i> and <i>BRCA2</i> Genes: Potential Impact on Breast and Ovarian Cancer Predisposition
by: Elizabeth Santana dos Santos, et al.
Published: (2018-11-01)

Tumour Versus Germline <i>BRCA</i> Testing in Ovarian Cancer: A Single-Site Institution Experience in the United Kingdom
by: Iolia Akaev, et al.
Published: (2021-03-01)

Haploinsufficiency of EXT1 and Heparan Sulphate Deficiency Associated with Hereditary Multiple Exostoses in a Pakistani Family
by: Muhammad Ajmal, et al.
Published: (2022-12-01)

<i>BRCA1/2</i> Mutations in Vietnamese Patients with Hereditary Breast and Ovarian Cancer Syndrome
by: Trong-Nhan N. Le, et al.
Published: (2022-01-01)

Breast Cancer Mortality among Women with a <i>BRCA1</i> or <i>BRCA2</i> Mutation in a Magnetic Resonance Imaging Plus Mammography Screening Program
by: Ellen Warner, et al.
Published: (2020-11-01)

Pathologic Findings at Risk Reducing Surgery in <i>BRCA</i> and Non-<i>BRCA</i> Mutation Carriers: A Single-Center Experience
by: Chiara Cassani, et al.
Published: (2022-12-01)

Five Italian Families with Two Mutations in <i>BRCA</i> Genes
by: Maria Teresa Vietri, et al.
Published: (2020-12-01)

Genetic Variants in the 3’UTR of <i>BRCA1</i> and <i>BRCA2</i> Genes and Their Putative Effects on the microRNA Mechanism in Hereditary Breast and Ovarian Cancer
by: María Marisela Sánchez-Chaparro, et al.
Published: (2020-05-01)

A Multi-Center Study of <i>BRCA1</i> and <i>BRCA2</i> Germline Mutations in Mexican-Mestizo Breast Cancer Families Reveals Mutations Unreported in Latin American Population
by: Oliver Millan Catalan, et al.
Published: (2019-08-01)

The Combined Human Genotype of Truncating <i>TTN</i> and <i>RBM20</i> Mutations Is Associated with Severe and Early Onset of Dilated Cardiomyopathy
by: Anna Gaertner, et al.
Published: (2021-06-01)

Human CD3γ, but not CD3δ, haploinsufficiency differentially impairs γδ versus αβ surface TCR expression
by: Muñoz-Ruiz Miguel, et al.
Published: (2013-01-01)

Controversies and Open Questions in Management of Cancer-Free Carriers of Germline Pathogenic Variants in <i>BRCA1/BRCA2</i>
by: Rinat Bernstein-Molho, et al.
Published: (2022-09-01)

Assessing Psychological Morbidity in Cancer-Unaffected <i>BRCA1/2</i> Pathogenic Variant Carriers: A Systematic Review
by: Anna Isselhard, et al.
Published: (2023-03-01)

Uptake and Effectiveness of Risk-Reducing Surgeries in Unaffected Female <i>BRCA1</i> and <i>BRCA2</i> Carriers: A Single Institution Experience in the Czech Republic
by: Martina Zimovjanova, et al.
Published: (2023-02-01)

Consolidated BRCA1/2 Variant Interpretation by MH BRCA Correlates with Predicted PARP Inhibitor Efficacy Association by MH Guide
by: Yosuke Hirotsu, et al.
Published: (2020-05-01)

<i>BRCA</i> Variations Risk Assessment in Breast Cancers Using Different Artificial Intelligence Models
by: Niyazi Senturk, et al.
Published: (2021-11-01)

GFP-Fragment Reassembly Screens for the Functional Characterization of Variants of Uncertain Significance in Protein Interaction Domains of the <i>BRCA1</i> and <i>BRCA2</i> Genes
by: Laura Caleca, et al.
Published: (2019-01-01)

IRF4 haploinsufficiency in a family with Whipple’s disease
by: Antoine Guérin, et al.
Published: (2018-03-01)