Breast and Ovary cancer, hereditary

DNA-first hereditary breast cancer

This test is available for the following conditions:

• Conditions > Oncogenetics > Breast and Ovary cancer, hereditary

Turnaround time
Urgent (2-3 weeks)

Method

• Sequence analysis of all coding exons and flanking intron-exon boundaries
• CNV analysis of all genes based on NGS

Performing laboratory: Radboudumc & Maastricht UMC+
Authorized material(s): EDTA blood

---

panel hereditary breast/ovarian cancer (BRCA1,BRCA2,ATM,BARD1,BRIP1,CHEK2,PALB2,PTEN, RAD51C,RAD51D)

This test is available for the following conditions:

• Conditions > Oncogenetics > Breast and Ovary cancer, hereditary

Turnaround time
3 weeks

Method

• Sequence analysis of all coding exons and flanking intron-exon boundaries
• CNV analysis of all genes based on NGS
• Exome analysis (WES or WGS data)

Performing laboratory: Radboudumc & Maastricht UMC+
Authorized material(s): EDTA blood, FFPE, Isolated DNA

---

ATM - risk factor breast cancer

This test is available for the following conditions:

• Conditions > Oncogenetics > Breast and Ovary cancer, hereditary

This product is also part of the following panels:

• Comprehensive preconception carrier test panel¹
• Hereditary cancer panel
• Mendelian inherited disorders panel with genome wide CNV analysis
• Movement disorders panel
• panel hereditary breast/ovarian cancer (BRCA1,BRCA2,ATM,BARD1,BRIP1,CHEK2,PALB2,PTEN, RAD51C,RAD51D)
• panel hereditary breast/ovarian cancer (BRCA1,BRCA2,ATM,BARD1,BRIP1,CHEK2,PALB2,PTEN, RAD51C,RAD51D)
• Primary immunodeficiencies panel

Turnaround time
Complete analysis & Targeted analysis: 3 weeks

Method

• Sequence analysis of all coding exons and flanking intron-exon boundaries

OMIM: 607585
Performing laboratory: Radboudumc & Maastricht UMC+
Authorized material(s): EDTA blood, FFPE, Isolated DNA

---

BARD1 - risk factor breast cancer

This test is available for the following conditions:

• Conditions > Oncogenetics > Breast and Ovary cancer, hereditary

Turnaround time
Complete analysis & Targeted analysis: 3 weeks

Method

• Sequence analysis of all coding exons and flanking intron-exon boundaries

OMIM: 601593
Performing laboratory: Radboudumc & Maastricht UMC+
Authorized material(s): EDTA blood, FFPE, Isolated DNA

---

BRCA1 - hereditary breast cancer and/or ovarian cancer (only familial mutation testing)

This test is available for the following conditions:

• Conditions > Oncogenetics > Breast and Ovary cancer, hereditary

This product is also part of the following panels:

• Comprehensive preconception carrier test panel¹
• Hereditary cancer panel
• Inherited bone marrow failure and/or predisposition panel to hematological malignancies
• Mendelian inherited disorders panel with genome wide CNV analysis
• panel hereditary breast/ovarian cancer (BRCA1,BRCA2,ATM,BARD1,BRIP1,CHEK2,PALB2,PTEN, RAD51C,RAD51D)
• panel hereditary breast/ovarian cancer (BRCA1,BRCA2,ATM,BARD1,BRIP1,CHEK2,PALB2,PTEN, RAD51C,RAD51D)

Turnaround time
Complete analysis & Targeted analysis: 3 weeks

Method

• Sequence analysis of selected exons and flanking intron-exon boundaries

Remarks
Analysis of a known familial mutation only (screening).

OMIM: 113705
Performing laboratory: Radboudumc & Maastricht UMC+
Authorized material(s): EDTA blood, FFPE, Isolated DNA

---

BRCA2 - hereditary breast cancer and/or ovarian cancer (only familial mutation testing)

This test is available for the following conditions:

• Conditions > Oncogenetics > Breast and Ovary cancer, hereditary

This product is also part of the following panels:

• Comprehensive preconception carrier test panel¹
• Hereditary cancer panel
• Inherited bone marrow failure and/or predisposition panel to hematological malignancies
• Mendelian inherited disorders panel with genome wide CNV analysis
• panel hereditary breast/ovarian cancer (BRCA1,BRCA2,ATM,BARD1,BRIP1,CHEK2,PALB2,PTEN, RAD51C,RAD51D)
• panel hereditary breast/ovarian cancer (BRCA1,BRCA2,ATM,BARD1,BRIP1,CHEK2,PALB2,PTEN, RAD51C,RAD51D)
• Sonic hedgehog medulloblastoma panel

Turnaround time
Complete analysis & Targeted analysis: 3 weeks

Method

• Sequence analysis of all coding exons and flanking intron-exon boundaries
• Deletion/duplication analysis (MLPA)

Remarks
Analysis of a known familial mutation only (screening).
MLPA analysis only upon request.

OMIM: 600185
Performing laboratory: Radboudumc & Maastricht UMC+
Authorized material(s): EDTA blood, FFPE, Isolated DNA

---

CHEK2 - risk factor breast cancer

This test is available for the following conditions:

• Conditions > Oncogenetics > Breast and Ovary cancer, hereditary

This product is also part of the following panels:

• Hereditary cancer panel
• Mendelian inherited disorders panel with genome wide CNV analysis
• panel hereditary breast/ovarian cancer (BRCA1,BRCA2,ATM,BARD1,BRIP1,CHEK2,PALB2,PTEN, RAD51C,RAD51D)
• panel hereditary breast/ovarian cancer (BRCA1,BRCA2,ATM,BARD1,BRIP1,CHEK2,PALB2,PTEN, RAD51C,RAD51D)

Turnaround time
Complete analysis & Targeted analysis: 3 weeks

Method

• Sequence analysis of selected exons and flanking intron-exon boundaries

OMIM: 604373
Performing laboratory: Radboudumc & Maastricht UMC+
Authorized material(s): EDTA blood, FFPE, Isolated DNA

---

PALB2 - hereditary breast cancer

This test is available for the following conditions:

• Conditions > Oncogenetics > Breast and Ovary cancer, hereditary

This product is also part of the following panels:

• Hereditary cancer panel
• Inherited bone marrow failure and/or predisposition panel to hematological malignancies
• Mendelian inherited disorders panel with genome wide CNV analysis
• panel hereditary breast/ovarian cancer (BRCA1,BRCA2,ATM,BARD1,BRIP1,CHEK2,PALB2,PTEN, RAD51C,RAD51D)
• panel hereditary breast/ovarian cancer (BRCA1,BRCA2,ATM,BARD1,BRIP1,CHEK2,PALB2,PTEN, RAD51C,RAD51D)
• Skin disorders panel¹
• Sonic hedgehog medulloblastoma panel

Turnaround time
Complete analysis & Targeted analysis: 3 weeks

Method

• Sequence analysis of all coding exons and flanking intron-exon boundaries

OMIM: 610355
Performing laboratory: Radboudumc & Maastricht UMC+
Authorized material(s): EDTA blood, FFPE, Isolated DNA

---

RAD51C - hereditary ovarian cancer (only familial mutation testing)

This test is available for the following conditions:

• Conditions > Oncogenetics > Breast and Ovary cancer, hereditary

Turnaround time
Complete analysis & Targeted analysis: 3 weeks

Method

• Sequence analysis of all coding exons and flanking intron-exon boundaries
• Deletion/duplication analysis (MLPA)

Remarks
MLPA analysis only upon request.

OMIM: 613399
Performing laboratory: Radboudumc & Maastricht UMC+
Authorized material(s): EDTA blood, FFPE, Isolated DNA

---

RAD51D - hereditary ovarian cancer (only familial mutation testing)

This test is available for the following conditions:

• Conditions > Oncogenetics > Breast and Ovary cancer, hereditary

Turnaround time
Complete analysis & Targeted analysis: 3 weeks

Method

• Sequence analysis of all coding exons and flanking intron-exon boundaries
• Deletion/duplication analysis (MLPA)

Remarks
MLPA analysis only upon request.

OMIM: 614291
Performing laboratory: Radboudumc & Maastricht UMC+
Authorized material(s): EDTA blood, FFPE, Isolated DNA

---