PanelApp (staging)
  1. Panels
  2. Breast Cancer
Description
This panel contains genes associated with breast cancer. 

Further information on the testing criteria for breast cancer can be found at eviQ: 
https://www.eviq.org.au/cancer-genetics/adult/genetic-testing-using-cancer-gene-panels/3413-breast-cancer-panel-testing

Only ‘Green’ genes should be tested and analysed for clinical testing, as they have sufficient peer-reviewed published evidence of association with breast cancer and are clinically actionable for diagnostic and/or predictive genetic testing.

Ensure testing includes copy number variant (CNV) analysis, as CNVs contribute to a clinically significant proportion of pathogenic variants associated with familial risk of cancer.

This panel has been compared against the Genomics England PanelApp and aligned with any assessments by ClinGen.

This panel has been developed under the guidance of experts in cancer genetics (Dr Helen Mar Fan and Dr Nicola Poplawski).
Panel Activity

1 reviewer

  • Chirag Patel (Genetic Health Queensland)

13 Entities

13 reviewed, 13 green

List Entity Reviews Mode of inheritance Details
13 Entitiess
Green Green List (high evidence)
ATM
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review
  • Expert Review Green
Phenotypes
  • Breast cancer, MONDO:0007254
  • ATM-related cancer predisposition, MONDO:0700270
  • Breast cancer, susceptibility to, MIM#114480
Tags
Green Green List (high evidence)
BARD1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review
  • Expert Review Green
Phenotypes
  • Breast cancer, MONDO:0007254
  • BARD1-related cancer predisposition, MONDO:0700267
  • Breast cancer, susceptibility to, MIM#114480
Tags
Green Green List (high evidence)
BRCA1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review
  • Expert Review Green
Phenotypes
  • Breast cancer, MONDO:0007254
  • BRCA1-related cancer predisposition, MONDO:0700268
  • Breast-ovarian cancer, familial, 1, MIM#604370
Tags
Green Green List (high evidence)
BRCA2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review
  • Expert Review Green
Phenotypes
  • Breast cancer, MONDO:0007254
  • BRCA2-related cancer predisposition, MONDO:0700269
  • Breast-ovarian cancer, familial, 2, MIM#612555
Tags
Green Green List (high evidence)
CDH1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review
  • Expert Review Green
Phenotypes
  • Breast cancer, MONDO:0007254
  • CDH1-related diffuse gastric and lobular breast cancer syndrome, MONDO:0100488
  • Diffuse gastric and lobular breast cancer syndrome with or without cleft lip and/or palate, MIM#137215
Tags
Green Green List (high evidence)
CHEK2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review
  • Expert Review Green
  • Literature
Phenotypes
  • Breast cancer, MONDO:0007254
  • CHEK2-related cancer predisposition, MONDO:0700271
  • Breast/prostate cancer, susceptibility to, MIM#609265
Tags
Green Green List (high evidence)
NF1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review
  • Expert Review Green
Phenotypes
  • Breast cancer, MONDO:0007254
  • Neurofibromatosis type 1, MONDO:0018975
  • Neurofibromatosis, type 1, MIM#162200
Tags
Green Green List (high evidence)
PALB2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review
  • Expert Review Green
Phenotypes
  • Breast cancer, MONDO:0007254
  • PALB2-related cancer predisposition, MONDO:0700272
  • Breast-ovarian cancer, familial, susceptibility to, 5, MIM#620442
  • Pancreatic cancer, susceptibility to, 3, MIM#613348
Tags
Green Green List (high evidence)
PTEN
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review
  • Expert Review Green
Phenotypes
  • Breast cancer, MONDO:0007254
  • PTEN hamartoma tumor syndrome, MONDO:0017623
  • PTEN hamartoma tumour syndromes, MIM#158350
Tags
Green Green List (high evidence)
RAD51C
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review
  • Expert Review Green
Phenotypes
  • Breast cancer, MONDO:0007254
  • RAD51C-related cancer predisposition, MONDO:0700273
  • Breast-ovarian cancer, familial, susceptibility to, 3, MONDO:0013253
  • Breast-ovarian cancer, familial, susceptibility to, 3, MIM#613399
Tags
Green Green List (high evidence)
RAD51D
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review
  • Expert Review Green
Phenotypes
  • Breast cancer, MONDO:0007254
  • RAD51D-related cancer predisposition, MONDO:0700274
  • Breast-ovarian cancer, familial, susceptibility to, 4, MONDO:0013669
  • Breast-ovarian cancer, familial, susceptibility to, 4, MIM#614291
Tags
Green Green List (high evidence)
STK11
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review
  • Expert Review Green
Phenotypes
  • Breast cancer, MONDO:0007254
  • Peutz-Jeghers syndrome, MONDO:0008280
  • Peutz-Jeghers syndrome, MIM#175200
Tags
Green Green List (high evidence)
TP53
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review
  • Expert Review Green
Phenotypes
  • Breast cancer, MONDO:0007254
  • Li-Fraumeni syndrome, MONDO:0018875
  • Li-Fraumeni syndrome, MIM#151623
Tags

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