PreSENTIA Hereditary Breast/Gynecologic Tumor Panel

General Information

The Breast/Gynecologic Hereditary Cancer Panel examines genetic mutations associated with cancers such as breast cancer, and cancers of the female reproductive organs – ovaries, cervix, and uterus. Breast and specific gynecologic cancers are the most common hereditary cancers.

The PreSENTIA Hereditary Breast/Gynecologic Cancer Panel identifies mutations that are likely to cause breast, uterine, ovarian, and cervical cancer in the future.

Who It is being carried out research?

If at least one of the following criteria is met, it is necessary to conduct a study:

• Personal history of breast/gynecological cancer (including ovarian, fallopian tube, primary peritoneal cancer).

• Breast/gynecological cancer diagnostics before age 50
• Family history of breast/gynecological cancer
• Descendants of specific ethnic groups who are at high risk of breast/gynecological cancers

How many? Genes Researches Panel?

The panel investigates 26 Genes

Breast/Gynecological Tumors At the panel Associate Tumors

12 hereditary cancer syndromes associated with the panel

• Ataxia-telangiectasia syndrome
• Constitutional mismatch repair syndrome (EPCAM, MSH2, MSH6, MLH1, PMS2)
• DICER 1 syndrome
• Hereditary breast and ovarian cancer syndrome (BRCA1, BRCA2)
• Hereditary diffuse gastric tumor syndrome (CDH1)
• Li-Fraumeni syndrome (TP53)
• Li-Fraumeni syndrome 2 (CHEK2)
• Lynch syndrome (EPCAM, MLH1, MSH2, MSH6, PMS2)
• MUTYH-associated polyposis syndrome
• Peutz-Jeghers syndrome (STK11)
• Proofreading polymerase-associated syndrome (POLD1, POLE)
• PTEN hamartoma syndrome

The following genes do not cause hereditary cancers, but they do increase the risk of cancer. These genes are also tested for in the breast/gynecologic hereditary cancer panel:

BARD1, BRIP, MRE11, NBN, PALB2, RAD50, RAD51C, RAD51D, SMARCA4

When Is held research?

Genetic testing is recommended.

• If a family member has been diagnosed with a BRCA1/2 gene mutation, or any other breast cancer gene mutation.
• Testing for BRCA1/2 gene mutations is essential for patients in high-risk groups (family history of breast/ovarian cancer, family history of breast/ovarian cancer before age 50, etc.)

genes

ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, DICER1, EPCAM, MLH1, MRE11A, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, POLD1, POLE, PTEN, RAD50, RAD51C, RAD51D, SMARCA4, STK11, TP53

For research Pattern Taking It will happen:

• In the regions: On Wednesday   
• In Tbilisi: On Wednesday or/და Thursday (Of the day first in half)

Samples Send Will be implemented On Thursdays, Of the day second Halfway! For this, Sample Sent Central in the laboratory Should To be sent  Thursday 12:00-till

The taken sample is sent and the research is conducted in the laboratory MEDICOVER Genetics– He in a laboratory with international accreditation.

Of the test Answers In Stock Pattern 20 after taking Work per day. Answer Will be forwarded Doctor's და Of the patient Email By mail. also  It is possible Admission on the ground Laboratory In the center.

Of need In the case of ""Synevo" Laboratory Offers Geneticist Consultation.  

Of use Instruction

The PreSENTIA Specimen Collection and Transport Kit is designed for the collection, transport, and storage of material required for hereditary cancer predisposition studies.

Security sizes

• For In Vitro Diagnostic Use.
• Buccal swab collection devices are intended for single use by one person.
• Store the kit at room temperature (15°C to 25°C). Properly stored kits are stable until the expiration date.
• Do not use an expired kit.
• Do not freeze collected samples.

Of the product Contents

Pattern Collectible Device: Two (2) buccal swab collection devices.

Packaging Materials: One (1) biosafety bag for sample sealing,

One (1) safety sticker.

Documentation:

1. One (1) barcode card with two (2) labels
2. Sample Entry Form (SIF)
3. Informed Consent Form

Pattern Collection Instruction

1. Fill out the sample collection form.
2. Write the patient's full name on the barcode label and attach it to the cheek swab collection device.
3. Using gloves, open the bag and remove the plastic tube.
4. To easily open the cap of the tube, hold the swab of the plastic tube with one hand and press the white cap with your thumb.
5. Hold the tampon by the handle (with the white cap), remove the tampon from the plastic tube, and place the tube on a clean surface.
6. Place the swab in your mouth on your tongue and wet it with saliva for ten seconds.
7. Move the swab on one side of the mouth between the cheek and gums in an up-down direction for 10 seconds. At the same time, massage the outside of the cheek with the other hand to increase the friction of the tampon with the mucous membrane.
8. Repeat the sequence of point 7 on the other side of the mouth.
9. After taking the sample, put the swab back into the plastic tube and close it securely.
10. Place the sample in a biosafety bag and seal it securely.
11. Place the sealed bag in a buffered envelope.
12. Remove the cover from the envelope's adhesive strip and seal the envelope.

important Information

• The buccal mucosa sample should be collected immediately after opening the package.
• Do not bend the swab with excessive force when collecting a patient sample, as this may cause the swab to break.
• For 30 minutes before sample collection, the patient is prohibited from: smoking, consuming food and fluids (except water), brushing teeth, and chewing gum.
• Please carefully follow the instructions for sample labeling, collection, and transportation.
• Verify all patient identification data for accuracy and compliance with requirements prior to sample packaging and transport.

order details და Support

For assistance or to order additional kits, please call +(995)32 2 800 111 or email us at info@synevo.ge. Additional information is available online at Synevo.ge

Source:

• All the above information was taken from ASCO, Centers for Disease Control and Prevention and NCCN
• Cardoso F, Kyriakides S, Ohno S, Penault-Llorca F, Poortmans P, Rubio IT, Zackrisson S, Senkus E; ESMO Guidelines Committee. Electronic address: clinicalguidelines@esmo.org. Early breast cancer: ESMO Clinical Practice Guidelines for diagnostics, treatment and follow-up†. Ann Oncol. 2019 Aug 1;30(8):1194-1220. doi: 10.1093/annonc/mdz173. Erratum in: Ann Oncol. 2019 Oct 1;30(10):1674. Erratum in: Ann Oncol. 2021 Feb;32(2):284. PMID: 31161190.