Germline BRCA1/2 mutations are the primary cause of the autosomal dominant cancer predisposition condition known as hereditary breast and ovarian cancer (HBOC). The likelihood of developing breast, ovarian, Fallopian tube, pancreatic, and prostate cancers is increased by mutations in these two...
Germline BRCA1/2 mutations are the primary cause of the autosomal dominant cancer predisposition condition known as hereditary breast and ovarian cancer (HBOC). The likelihood of developing breast, ovarian, Fallopian tube, pancreatic, and prostate cancers is increased by mutations in these two highly penetrant genes.
BRCA1 or BRCA2 mutations that are solely seen in tumour tissue are referred to as somatic BRCA mutations. The authors of the study characterised germline BRCA mutations as either a BRCA1 or BRCA2 mutation that was present on germ cells and was found through genetic testing of non-tumor tissue, such as a blood test.
Whole coding exons receive at least 20X NGS coverage. It will be utilized to specify which variations in the targeted area are potentially clinically important. By comparing coverage depth inside the targeted regions to a set of normalized controls, copy number variation is evaluated. Moreover, copy number variations that may have clinical importance within the targeted regions will be revealed. Alu repetition insertions are discovered utilizing particular PCR amplifications in BRCA1 exon 10 and BRCA2 exons 3, 22, and 25. A different method or platform will determine each report modification that may have clinical importance.
The finding of germline pathogenic modifications in individuals at the tremendous chance for breast, ovarian, prostate, or pancreatic tumor is accomplished by targeted NGS BRCA1 and BRCA2 sequencing and deletion/duplication estimation. The BRCA1 and/or BRCA2 genes' germline modification is related to an elevated risk for specific malignancies. Numerous households with BRCA1 and BRCA2 germline modifications have documented insufficient penetrance, variable expressivity, variable age of start, and a broad range of hazard estimates. It has been estimated that the lifetime danger for an individual carrying a pathogenic germline modification in BRCA1 or BRCA2 is 40–80% for breast tumors and 11–40% for ovarian tumors
This technique will not identify intronic mutations in other genes linked to these disorders or find intronic mutations outside the region where the BRCA1 and BRCA2 genes have been sequenced.
Instructions for Collecting
In a lavender top tube, collect the specimen. If kept at room temperature, send the entire specimen within 24 hours; if kept in the refrigerator, send it within 5 days. On the test request, note the patient's ethnicity, pedigree, and family history. Initial to executing genetic experimentation it is highly instructed to obtain the individual's informed consent.
Lowest Volume: 5 mL EDTA whole blood Ordinary Volume: 5 to 10 mL
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|BRCA1 & BRCA2 Somatic Mutation Analysis||
BRCA1 & BRCA2 Somatic Mutation Analysis (Pathology Test)
Within 24 hours*
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