Unknown

Dataset Information

0

BARD1 nonsense variant c.1921C>T in a patient with recurrent breast cancer.

ABSTRACT: One of the strongest risk factors predisposing patients to breast cancer is a positive family history. In our study, we describe a patient diagnosed with multiple breast cancer tumors. Genetic analysis revealed a pathogenic variant in BARD1, which is associated with an increased risk of developing certain types of cancer.

SUBMITTER: Gass J 

PROVIDER: S-EPMC5290515 | biostudies-literature | 2017 Feb

REPOSITORIES: biostudies-literature

Json Xml
altmetric image

Publications

<i>BARD1</i> nonsense variant c.1921C>T in a patient with recurrent breast cancer.

Gass Jennifer J   Tatro Madeline M   Blackburn Patrick P   Hines Stephanie S   Atwal Paldeep S PS  

Clinical case reports 20170104 2

One of the strongest risk factors predisposing patients to breast cancer is a positive family history. In our study, we describe a patient diagnosed with multiple breast cancer tumors. Genetic analysis revealed a pathogenic variant in <i>BARD1</i>, which is associated with an increased risk of developing certain types of cancer. ...[more]

Similar Datasets

Unknown The BARD1 Cys557Ser variant and breast cancer risk in Iceland.
| S-EPMC1479388 | biostudies-literature
Unknown Functional consequences of a rare missense BARD1 c.403G>A germline mutation identified in a triple-negative breast cancer patient.
| S-EPMC8088670 | biostudies-literature
Unknown Bioinformatics Analysis of Expression and Alterations of BARD1 in Breast Cancer.
| S-EPMC6900616 | biostudies-literature
Unknown <i>BARD1</i> is A Low/Moderate Breast Cancer Risk Gene: Evidence Based on An Association Study of the Central European p.Q564X Recurrent Mutation.
| S-EPMC6627038 | biostudies-literature
Unknown Circlular RNA BARD1 (Hsa_circ_0001098) overexpression in breast cancer cells with TCDD treatment could promote cell apoptosis via miR-3942/BARD1 axis.
| S-EPMC6343738 | biostudies-literature
Unknown Olaparib for metastatic breast cancer in a patient with a germline PALB2 variant.
| S-EPMC7382468 | biostudies-literature
Unknown A Recurrent De Novo Nonsense Variant in ZSWIM6 Results in Severe Intellectual Disability without Frontonasal or Limb Malformations.
| S-EPMC5812890 | biostudies-literature
Unknown A Novel Nonsense MMP21 Variant Causes Dextrocardia and Congenital Heart Disease in a Han Chinese Patient.
| S-EPMC7680847 | biostudies-literature
Unknown Nonsense variant of ATP8B1 gene in heterozygosis and benign recurrent intrahepatic cholestasis: A case report and review of literature.
| S-EPMC7061267 | biostudies-literature
Unknown Exceptional durable response to everolimus in a patient with biphenotypic breast cancer harboring an STK11 variant.
| S-EPMC5593157 | biostudies-other