Recurrent Germline BRCA2 Gene Mutation in Lithuanian Family

Recurrent Germline BRCA2 Gene Mutation in Lithuanian Family

Approximately 10% of all breast cancer (BC) cases are familial and caused by inheritance of mutant <i>BRCA1</i>, <i>BRCA2,</i> or some other genes from the same DNA reparation pathway. Genetic counseling in families with cancer history is a powerful means for early cancer det...

Full description

Bibliographic Details
Main Authors:	Ieva Sadzevičienė, Olga Liaugaudienė, Justinas Besusparis, Jolita Asadauskienė, Ilona Kulikienė, Birutė Brasiūnienė, Rasa Sabaliauskaitė, Sonata Jarmalaitė
Format:	Article
Language:	English
Published:	MDPI AG 2020-03-01
Series:	Medicina
Subjects:	breast cancer <i>brca</i> testing <i>brca2</i> c.3847_3848delgt
Online Access:	https://www.mdpi.com/1010-660X/56/3/119

Similar Items

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)

<i>BRCA</i> Genes and Related Cancers: A Meta-Analysis from Epidemiological Cohort Studies
by: Yen-Chien Lee, et al.
Published: (2021-08-01)

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>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)

Detection of Germline Mutations in a Cohort of 139 Patients with Bilateral Breast Cancer by Multi-Gene Panel Testing: Impact of Pathogenic Variants in Other Genes beyond <i>BRCA1/2</i>
by: Daniele Fanale, et al.
Published: (2020-08-01)

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)

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)

Complex Characterization of Germline Large Genomic Rearrangements of the <i>BRCA1</i> and <i>BRCA2</i> Genes in High-Risk Breast Cancer Patients—Novel Variants from a Large National Center
by: Anikó Bozsik, et al.
Published: (2020-06-01)

<i>BRCA1/2</i> Molecular Assay for Ovarian Cancer Patients: A Survey through Italian Departments of Oncology and Molecular and Genomic Diagnostic Laboratories
by: Ettore Capoluongo, et al.
Published: (2019-10-01)

Quantifying <i>BRCA1</i> and <i>BRCA2</i> mRNA Isoform Expression Levels in Single Cells
by: Vanessa L. Lattimore, et al.
Published: (2019-02-01)

Analysis of Italian <i>BRCA1/2</i> Pathogenic Variants Identifies a Private Spectrum in the Population from the Bergamo Province in Northern Italy
by: Gisella Figlioli, et al.
Published: (2021-01-01)

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

Gene Panel Testing for Breast Cancer Reveals Differential Effect of Prior <i>BRCA1/2</i> Probability
by: D. Gareth Evans, et al.
Published: (2021-08-01)

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

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)

A Recurrent <i>BRCA2</i> Mutation Explains the Majority of Hereditary Breast and Ovarian Cancer Syndrome Cases in Puerto Rico
by: Hector J. Diaz-Zabala, et al.
Published: (2018-11-01)

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

Identification of Variants (rs11571707, rs144848, and rs11571769) in the <i>BRCA2</i> Gene Associated with Hereditary Breast Cancer in Indigenous Populations of the Brazilian Amazon
by: Elizabeth Ayres Fragoso Dobbin, et al.
Published: (2021-01-01)

Spectrum of Germline <i>BRCA1 </i>and<i> BRCA2</i> Variants Identified in 2351 Ovarian and Breast Cancer Patients Referring to a Reference Cancer Hospital of Rome
by: Concetta Santonocito, et al.
Published: (2020-05-01)

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)

Screening BRCA1 and BRCA2 Mutation Carriers for Breast Cancer
by: Ellen Warner
Published: (2018-11-01)

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

Hereditary Breast and Ovarian Cancer in Families from Southern Italy (Sicily)—Prevalence and Geographic Distribution of Pathogenic Variants in <i>BRCA1/2</i> Genes
by: Lorena Incorvaia, et al.
Published: (2020-05-01)

A Population-Based Analysis of <i>BRCA1</i>/<i>2</i> Genes and Associated Breast and Ovarian Cancer Risk in Korean Patients: A Multicenter Cohort Study
by: Kyung-Sun Park, et al.
Published: (2021-05-01)

Differences in Ovarian and Other Cancers Risks by Population and <i>BRCA</i> Mutation Location
by: Masayuki Sekine, et al.
Published: (2021-07-01)

BRCA Methylation Testing Identifies a Subset of Ovarian Carcinomas without Germline Variants That Can Benefit from PARP Inhibitor
by: Nora Sahnane, et al.
Published: (2020-12-01)

Implementation of Multigene Germline and Parallel Somatic Genetic Testing in Epithelial Ovarian Cancer: SIGNPOST Study
by: Dhivya Chandrasekaran, et al.
Published: (2021-08-01)

Risk of Contralateral Breast Cancer in Women with and without Pathogenic Variants in <i>BRCA1, BRCA2</i>, and <i>TP53</i> Genes in Women with Very Early-Onset (<36 Years) Breast Cancer
by: Zerin Hyder, et al.
Published: (2020-02-01)

Genetic Landscape of Male Breast Cancer
by: Fernando Augusto Batista Campos, et al.
Published: (2021-07-01)

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)

Breast Cancer Predisposition Genes and Synthetic Lethality
by: Hannah E. Neiger, et al.
Published: (2021-05-01)

RNA Expression of DNA Damage Response Genes in Muscle-Invasive Bladder Cancer: Influence on Outcome and Response to Adjuvant Cisplatin-Based Chemotherapy
by: Jonas Herrmann, et al.
Published: (2021-04-01)

Examining the association between BRCA1 and topoisomerase I in cancer cells in response to camptothecin treatment
by: Godley IV, Frederick Augustus
Published: (2016)

Role of BRCA Mutation and HE4 in Predicting Chemotherapy Response in Ovarian Cancer: A Retrospective Pilot Study
by: Francesco Plotti, et al.
Published: (2021-01-01)

Solid Pseudopapillary Neoplasm of the Pancreas and Abdominal Desmoid Tumor in a Patient Carrying Two Different <i>BRCA2</i> Germline Mutations: New Horizons from Tumor Molecular Profiling
by: Andrea Mafficini, et al.
Published: (2021-03-01)

The Combination of Single-Cell and Next-Generation Sequencing Can Reveal Mosaicism for <i>BRCA2</i> Mutations and the Fine Molecular Details of Tumorigenesis
by: Alexandra Gráf, et al.
Published: (2021-05-01)

Prevalence and Spectrum of <i>BRCA</i> Germline Variants in Central Italian High Risk or Familial Breast/Ovarian Cancer Patients: A Monocentric Study
by: Jennifer Foglietta, et al.
Published: (2020-08-01)

Tumor BRCA Test for Patients with Epithelial Ovarian Cancer: The Role of Molecular Pathology in the Era of PARP Inhibitor Therapy
by: Caterina Fumagalli, et al.
Published: (2019-10-01)

Downregulation of ATM and BRCA1 Predicts Poor Outcome in Head and Neck Cancer: Implications for ATM-Targeted Therapy
by: Yu-Chu Wang, et al.
Published: (2021-05-01)

Transcriptome of Male Breast Cancer Matched with Germline Profiling Reveals Novel Molecular Subtypes with Possible Clinical Relevance
by: Veronica Zelli, et al.
Published: (2021-09-01)