List of diseases covered by Breast and Ovarian Cancer NGS panel

Published 06/07/2018

List of diseases covered by
Breast and Ovarian Cancer NGS panel

Gene	Condition

ATM	Ataxia-telangiectasia; Breast cancer, susceptibility to
BARD1	Breast cancer, susceptibility to
BRCA1	Breast-ovarian cancer, familial, 1; Pancreatic cancer, susceptibility to, 4; Fanconi anemia, complementation group S
BRCA2	Fanconi anemia, complementation group D1; Wilms tumor; Breast cancer, male, susceptibility to; Breast-ovarian cancer, familial, 2; Glioblastoma 3; Medulloblastoma; Pancreatic cancer 2; Prostate cancer
BRIP1	Breast cancer, early-onset; Fanconi anemia, complementation group J
CDH1	Breast cancer, lobular; Prostate cancer, susceptibility to; Endometrial carcinoma, somatic; Ovarian carcinoma, somatic; Blepharocheilodontic syndrome 1; Gastric cancer, familial diffuse, with or without cleft lip and/or palate<
CHEK2	Breast cancer, susceptibility to; Prostate cancer, familial, susceptibility to; Li-Fraumeni syndrome; Osteosarcoma, somatic
MEN1	Multiple endocrine neoplasia 1
MLH1	Mismatch repair cancer syndrome; Colorectal cancer, hereditary nonpolyposis, type 2; Muir-Torre syndrome
MRE11A	Ataxia-telangiectasia-like disorder 1
MSH2	Mismatch repair cancer syndrome; Colorectal cancer, hereditary nonpolyposis, type 1; Muir-Torre syndrome
MSH6	Mismatch repair cancer syndrome; Colorectal cancer, hereditary nonpolyposis, type 5; Endometrial cancer, familial
MUTYH	Adenomas, multiple colorectal; Colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas; Gastric cancer, somatic
NBN	Nijmegen breakage syndrome; Leukemia, acute lymphoblastic; Aplastic anemia
PALB2	Breast cancer, susceptibility to; Pancreatic cancer, susceptibility to, 3; Fanconi anemia, complementation group N
PTCH1	Basal cell nevus syndrome; Holoprosencephaly 7; Basal cell carcinoma, somatic
PTEN	Glioma susceptibility 2, Meningioma, Macrocephaly/autism syndrome; Endometrial carcinoma, somatic; Malignant melanoma, somatic; Squamous cell carcinoma, head and neck, somatic; Prostate cancer, somatic; VATER association with macrocephaly and ventriculomegaly; Bannayan-Riley-Ruvalcaba syndrome; Cowden syndrome 1
RAD50	Nijmegen breakage syndrome-like disorder
RAD51C	Breast-ovarian cancer, familial, susceptibility to, 3; Fanconi anemia, complementation group O
RAD51D	Breast-ovarian cancer, familial, susceptibility to, 4
STK11	Pancreatic cancer; Peutz-Jeghers syndrome; Testicular tumor, somatic
TP53	Breast cancer; Adrenal cortical carcinoma; Choroid plexus papilloma; Colorectal cancer; Li-Fraumeni syndrome; Nasopharyngeal carcinoma; Osteosarcoma; Pancreatic cancer; Basal cell carcinoma 7; Glioma susceptibility 1
XRCC2	Fanconi anemia, complementation group U

Breast and Ovarian Cancer

Published 22/04/2010

Breast and Ovarian Cancer
NGS panel

Genes
(full coding
region):

ATM, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, MLH1, MSH2, MSH6, MUTYH, PALB2, PTEN, STK11, TP53

List of diseases covered by the panel

Lab method:

NGS panel with CNV analysis

TAT:

6-9 weeks

Specimen requirements:

2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.

Ordering information:

Go to online ordering or download sample submission form

Sequencing of BRCA1, BRCA2 genes

Genes
(full coding
region):

BRCA1, BRCA2

Lab method:

NGS

TAT:

2-4 weeks

Specimen requirements:

2-4 ml of blood with anticoagulant EDTA

Ordering information:

Go to online ordering or download sample submission form

Del/dup analysis

Genes:

BRCA1, BRCA2, CHEK2

Lab method:

MLPA

TAT:

2-4 weeks

Specimen requirements:

2-4 ml of blood with anticoagulant EDTA

500 ng DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.

Ordering information:

Go to online ordering or download sample submission form

Indications for genetic testing:

1. Testing of individuals with early-age-onset of breast or ovarian cancer
2. Testing of individuals with family history of breast or ovarian cancer
3. Testing of at-risk family members for known mutations
3. Genetic counseling

Testing should be performed if there is a family history of breast or ovarian cancer, genetic alterations have been found in the family, or there is a history of breast cancer in males in the family.

Breast and ovarian cancers are most strongly associated with mutations of the BRCA1 and BRCA2 genes. Among women who have a clinically important BRCA gene mutation, the lifetime risk of developing breast and/or ovarian cancer can reach 80%. Cancer-predisposing mutations in the BRCA1 and BRCA2 genes are inherited in an autosomal dominant manner. The prognosis for breast cancer survival depends upon the stage at which breast cancer is diagnosed.