Diagnostics

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Breast Cancer Panel

The Breast Cancer Panel is a comprehensive next-generation sequencing (NGS) panel that analyzes genes associated with increased risks for hereditary breast cancer.

Breast cancer occurs frequently in the general population, with the average woman’s lifetime risk of developing breast cancer being approximately 12% (SEERP). Although the majority of breast cancer is not related to heritable factors, in approximately 5-10% cases breast cancer is caused by a specific genetic change. Women who carry these genetic changes may be at significantly increased risk of developing breast cancer in their lifetime. The majority of hereditary breast cancer is caused by mutations in the BRCA1 and BRCA2 genes, which can lead to lifetime breast cancer risks of 46-87% (Ford et al, 1994; Antoniou et al, 2003; Petrucelli et al, 1998). Frequently, changes in genes that result in increased risks for breast cancer also predispose individuals to increased risks for other malignancies.

Included Disorders

This panel includes genes associated with:

  • Hereditary breast and ovarian cancer syndrome (HBOC)
  • Cowden syndrome
  • Peutz-Jeghers syndrome
  • Neurofibromatosis
  • Li-Fraumeni syndrome
  • Hereditary diffuse gastric cancer syndrome
  • Nijmegen breakage syndrome
  • Ataxia telangiectasia
  • Hereditary diffuse gastric cancer

Inheritance

Hereditary breast cancer is typically inherited in an autosomal dominant manner, although several of the genes on this panel are associated with recessive genetic conditions:

  • NBN is associated Nijmegen breakage syndrome
  • ATM is associated with ataxia telangiectasia
  • BRCA2, BRIP1, PALB2, and RAD51C are associated with Fanconi anemia

Indications for Testing

  • A personal history of early breast cancer
  • A personal history of male breast cancer
  • A personal history of multiple primary breast cancers
  • A family history suggestive of a hereditary cancer syndrome, including multiple individuals on the same side of a family diagnosed with cancer, especially at ages below population averages
  • Risk assessment for asymptomatic family of members of proband with molecular diagnosis of a hereditary cancer syndrome

Methodology

Next-generation sequencing technology is used to test clinically relevant portions of each gene, including coding exons, adjacent flanking bases, and selected introns/noncoding variants. Pathogenic and likely pathogenic variants are confirmed by orthogonal methods. Copy number variants, including intragenic deletions and duplications are detected to a resolution of a single exon. To request analysis of a specific single exon copy number variant, please contact our Client Services team prior to ordering.

Included Genes (15)

ATM BARD1 BRCA1
BRCA2 BRIP1 CDH1
CHEK2 NBN NF1
PALB2 PTEN RAD51C
RAD51D STK11 TP53

Additions to the Breast Cancer Panel:

Emerging evidence genes can also be added onto the comprehensive panel. These genes do not have a clear association with hereditary breast cancer, but emerging evidence suggests that they may play a role in disease pathogenesis.

Emerging Evidence (12):

AKT1 FAM175A FANCC
MRE11A MUTYH PIK3CA
RAD50 RINT1 SDHB
SDHD XRCC2 POLD1

References:

  • Antoniou A, Pharoah PD, Narod S, et al. Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case Series unselected for family history: a combined analysis of 22 studies. Am J Hum Genet. 2003;72(5):1117-30.
  • Ford D, Easton DF, Bishop DT, Narod SA, Goldgar DE. Risks of cancer in BRCA1-mutation carriers. Breast Cancer Linkage Consortium. Lancet. 1994;343(8899):692-5.
  • Petrucelli N, Daly MB, Pal T. BRCA1- and BRCA2-Associated Hereditary Breast and Ovarian Cancer. 1998 Sep 4 [Updated 2016 Dec 15]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1247/
  • Surveillance, Epidemiology, and End Results Program (SEERP). Cancer Stat Fact Sheets [Accessed April 20, 2017]. Available from: http://seer.cancer.gov/