List of diseases covered by Breast and Ovarian Cancer NGS panel

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

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

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

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.

Asper Oncogenetics

Asper Oncogenetics

Breast and Ovarian Cancer
Ovarian Cancer NEW
Cancer Predisposition
Familial Adenomatous Polyposis
Fanconi Anemia
Lynch Syndrome/Hereditary Non-Polyposis Colon Cancer
Melanoma
Microsatellite instability
MUTYH-associated polyposis
Neurofibromatosis
Nijmegen Breakage Syndrome
Polyposis Syndromes
Prostate Cancer
Renal Cancer
Tuberous sclerosis
Thyroid Cancer
Von Hippel-Lindau Disease
Whole Exome Sequencing

Asper Oncogenetics is a set of genetic tests related to common and rare hereditary cancers, including colorectal cancer, breast and ovarian cancer, lung cancer, thyroid cancer as well as cancer related syndromes.

We offer quick services for early diagnosis and estimation of disease risk. Early diagnosis of cancer is vital to improve the outcome of treatment and, therefore, prevent cancer related deaths.