Related Experiment Video

Updated: May 29, 2026

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

Novel germline PALB2 truncating mutations in African American breast cancer patients

Yonglan Zheng1, Jing Zhang, Qun Niu

  • 1Center for Clinical Cancer Genetics and Global Health, Department of Medicine, The University of Chicago, Chicago, Illinois 60637, USA.

Cancer
|September 21, 2011
PubMed
Abstract

Insights

Partner and localizer of breast cancer 2 (PALB2) mutations are found in African American women with breast cancer. These rare PALB2 mutations contribute to both familial and nonfamilial breast cancer cases.

Area of Science:

  • Genetics and Genomics
  • Oncology
  • Molecular Biology

Background:

  • The partner and localizer of breast cancer 2 (PALB2) protein is crucial for DNA repair, acting as a bridge between BRCA1 and BRCA2.
  • Truncating mutations in the PALB2 gene are associated with Fanconi anemia and increased breast cancer risk in diverse populations.

Purpose of the Study:

  • To investigate the prevalence and contribution of PALB2 germline mutations in African American women diagnosed with breast cancer.
  • To assess the association of PALB2 mutations with family history and sporadic breast cancer cases.

Main Methods:

  • Direct sequencing of all coding exons, exon/intron boundaries, and untranslated regions of the PALB2 gene in 279 African American women with breast cancer.
  • Comparison of identified mutations with a control group of 262 individuals from the same population.

Main Results:

  • Three novel, monoallelic, truncating PALB2 mutations (1.08% frequency) were identified in the patient cohort.
  • Fifty sequence variants, including 27 novel ones, were detected in addition to the truncating mutations.
  • No truncating PALB2 mutations were found in the control group, indicating their specific association with breast cancer.

Conclusions:

  • PALB2 mutations are present in African American women with both familial and nonfamilial breast cancer.
  • Rare PALB2 mutations represent a significant, albeit small, proportion of breast cancer cases in this population.

More Related Videos

Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors11:15

Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors

Published on: September 20, 2016

Related Concept Videos

Cancer-Critical Genes II: Tumor Suppressor Genes01:05

Cancer-Critical Genes II: Tumor Suppressor Genes

Genes usually encode proteins necessary for the proper functioning of a healthy cell. Mutations can often cause changes to the gene expression pattern, thereby altering the phenotype.
When the function of certain critical genes, especially those involved in cell cycle regulation and cell growth signaling cascades, gets disrupted, it upsets the cell cycle progression. Such cells with unchecked cell cycles start proliferating uncontrollably and eventually develop into tumors.
Such genes that act...
Cancer-Critical Genes II: Tumor Suppressor Genes01:05

Cancer-Critical Genes II: Tumor Suppressor Genes

Genes usually encode proteins necessary for the proper functioning of a healthy cell. Mutations can often cause changes to the gene expression pattern, thereby altering the phenotype.
When the function of certain critical genes, especially those involved in cell cycle regulation and cell growth signaling cascades, gets disrupted, it upsets the cell cycle progression. Such cells with unchecked cell cycles start proliferating uncontrollably and eventually develop into tumors.
Such genes that act...
Loss of Tumor Suppressor Gene Functions01:12

Loss of Tumor Suppressor Gene Functions

Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
When the tumor suppressor genes develop mutations or are lost, cells start growing out of control, leading to cancer. However, a single functional copy of the tumor suppressor gene is enough for the cells to maintain their normal functions and cell...
Loss of Tumor Suppressor Gene Functions01:12

Loss of Tumor Suppressor Gene Functions

Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
When the tumor suppressor genes develop mutations or are lost, cells start growing out of control, leading to cancer. However, a single functional copy of the tumor suppressor gene is enough for the cells to maintain their normal functions and cell...
Cancers Originate from Somatic Mutations in a Single Cell02:21

Cancers Originate from Somatic Mutations in a Single Cell

Cancer arises from mutations in the critical genes that allow healthy cells to escape cell cycle regulation and acquire the ability to proliferate indefinitely. Though originating from a single mutation event in one of the originator cells, cancer progresses when the mutant cell lines continue to gain more and more mutations, and finally, become malignant. For example, chronic myelogenous leukemia (CML) develops initially as a non-lethal increase in white blood cells, which progressively...
Cancers Originate from Somatic Mutations in a Single Cell02:21

Cancers Originate from Somatic Mutations in a Single Cell

Cancer arises from mutations in the critical genes that allow healthy cells to escape cell cycle regulation and acquire the ability to proliferate indefinitely. Though originating from a single mutation event in one of the originator cells, cancer progresses when the mutant cell lines continue to gain more and more mutations, and finally, become malignant. For example, chronic myelogenous leukemia (CML) develops initially as a non-lethal increase in white blood cells, which progressively...