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Related Concept Videos

Barrett Esophagus-I: Introduction01:21

Barrett Esophagus-I: Introduction

Barrett's esophagus is a medical condition where the esophageal mucosa is significantly damaged by stomach acid or other digestive fluids, often due to long-term exposure associated with gastroesophageal reflux disease (GERD). In GERD, a weakened or abnormally relaxed lower esophageal sphincter allows stomach acid to flow persistently into the esophagus.
This constant acid exposure transforms the esophagus's pink mucosal lining (stratified squamous epithelium) into a type of lining more similar...
SBAR II: Application of SBAR01:14

SBAR II: Application of SBAR

SBAR is an effective communication tool used by healthcare professionals to communicate patient information accurately. SBAR stands for Situation, Background, Assessment, and Recommendation. For a better understanding, an example is given below.
SBAR Report from a Nurse to a Health Care Provider
S: "Hello, Dr. Smith. This is Jane, RN, from the Med Surg unit. I am calling to tell you about Ms. White in Room 210, who is experiencing increased pain and redness at her incision site. Her recent...
Barrett Esophagus-II: Clinical Manifestations and Management01:21

Barrett Esophagus-II: Clinical Manifestations and Management

Individuals with Barrett's esophagus are often asymptomatic, but they may experience symptoms commonly associated with GERD, such as heartburn and acid regurgitation. Additional symptoms can include difficulty swallowing, chest pain, unintentional weight loss, blood in the stool (which may appear black, tarry, or bloody), and episodes of vomiting.
To diagnose Barrett's esophagus, healthcare providers often recommend an endoscopy for those showing symptoms of acid reflux. The procedure entails...
Assessment of blood pressure in brachial artery(one-step method)01:15

Assessment of blood pressure in brachial artery(one-step method)

This procedural guide systematically measures blood pressure using an oscillometric digital sphygmomanometer, emphasizing accuracy, patient safety, and comfort.
Prepare for the Procedure:
Blood Studies I: ABG and VBG01:26

Blood Studies I: ABG and VBG

Blood studies are critical in the medical field, enabling healthcare professionals to assess a patient's health status accurately. This page will focus on two significant blood studies: Arterial Blood Gas (ABG) and Venous Blood Gas (VBG).
Arterial Blood Gas (ABG)
Arterial Blood Gas (ABG) studies are crucial for assessing the lungs' ability to supply oxygen and remove carbon dioxide, reflecting the patient's ventilation status. They also help understand the kidneys' capacity to reabsorb or...
Lower GI Series: Barium Enema01:23

Lower GI Series: Barium Enema

A Barium Enema, or a lower GI series, is a specialized radiographic examination designed to visualize the lower gastrointestinal tract, specifically the colon and rectum. This procedure is instrumental in diagnosing various conditions such as colorectal cancer, polyps, diverticulosis, and inflammatory bowel disease.
Procedure Details
The examination begins by inserting a lubricated rectal tube into the patient's rectum to administer a radiopaque barium solution. The barium flow is carefully...

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Fingerprinting Cardiolipin in Leukocytes by Mass Spectrometry for a Rapid Diagnosis of Barth Syndrome
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Published on: March 23, 2022

Which individuals undergoing BRACAnalysis need BART testing?

Kristen M Shannon1, Linda H Rodgers, Gayun Chan-Smutko

  • 1Massachusetts General Hospital, Center for Cancer Risk Assessment, Boston, MA, USA. keshannon@partners.org

Cancer Genetics
|October 4, 2011
PubMed
Summary
This summary is machine-generated.

Large genomic rearrangements (LGR) in BRCA1 and BRCA2 mutations are found even when patients do not meet standard criteria for testing. Comprehensive genetic testing, including LGR analysis, is recommended for all patients undergoing BRCA1 and BRCA2 testing.

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06:48

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gDNA Enrichment by a Transposase-based Technology for NGS Analysis of the Whole Sequence of BRCA1, BRCA2, and 9 Genes Involved in DNA Damage Repair
08:15

gDNA Enrichment by a Transposase-based Technology for NGS Analysis of the Whole Sequence of BRCA1, BRCA2, and 9 Genes Involved in DNA Damage Repair

Published on: October 6, 2014

Area of Science:

  • Genetics
  • Oncology
  • Molecular Biology

Background:

  • Deleterious mutations in BRCA1 and BRCA2 genes include both sequence variants and large genomic rearrangements (LGR).
  • Myriad Genetics Laboratory (MGL) has established criteria for ordering LGR testing (BRACAnalysis Rearrangement Test, BART™) alongside BRCA1/BRCA2 testing.

Purpose of the Study:

  • To evaluate the proportion of patients with LGR mutations in BRCA1 and BRCA2 who met MGL's established criteria for LGR testing.
  • To assess the utility of MGL criteria in identifying patients with LGR mutations.

Main Methods:

  • Retrospective chart review of individuals undergoing genetic testing at the institution from August 2006 to August 2009.
  • Classification of individuals based on the presence or absence of LGR mutations in BRCA1 or BRCA2.
  • Categorization of patient histories according to MGL defined LGR criteria, criteria including third-degree relatives, or no defined criteria.

Main Results:

  • A total of 257 BART tests were performed.
  • Five individuals (1.9%) were found to have LGR mutations.
  • Two LGRs were identified in patients meeting MGL criteria, one in a patient meeting criteria with third-degree relatives, and two in patients not meeting MGL criteria.

Conclusions:

  • Large genomic rearrangements (LGR) in BRCA1 and BRCA2 can occur in individuals who do not meet standard pretest probability criteria for mutation.
  • These findings support the recommendation for routine inclusion of LGR testing with all BRCA1 and BRCA2 genetic tests.
  • Comprehensive LGR testing ensures the most complete and reliable genetic testing results for patients.