Recommended panel testing at Breda Genetics for this condition: Fanconi anemia (BRCA1, BRCA2, BRIP1, ERCC4, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, MAD2L2, PALB2, RAD51A, RAD51C, RFWD3, SLX4, UBE2T, XRCC2) Summary Fanconi anemia (FA) is a rare disorder characterized by physical abnormalities such as short stature, skeletal malformations, skin pigmentation abnormalities, microcephaly,
Panel testing recommended at Breda Genetics for this condition: Breast and ovarian cancer (ATM, BARD1, BRCA1, BRCA2, CDH1, CHEK2, MRE11A, NBN, PALB2, RAD50, RAD51C, RAD51D, PTEN, STK11, TP53) Summary Breast cancer is a major health priority worldwide. Breast cancer develops when transformed cells in the breast begin to grow out of control. It occurs almost entirely in
Tumor Genetic Testing Summary We summarize here strategies to adopt when testing individuals for BRCA1 and BRCA2 mutations based on positive or negative family history. Any comments or personal experiences are welcome in the comments section. For an introduction on the BRCA1 and BRCA2 genes, you can read our BRCA1 and BRCA2 deep dive page here or our clinical card on hereditary
Tumor Genetic Testing Thousands of sequence variants have been so far identified in the BRCA1 and BRCA2 genes through the analysis of breast cancer families and population-based case studies. A total of 19.655 different mutations and polymorphisms are reported in the BRCA1 gene by dal BRCA Exchange, whereas the same database reports 20.734 unique mutations
Current Methods for BRCA1/BRCA2 molecular analysis BRCA testing is commonly performed by direct Sanger sequencing. This method is considered the ‘gold standard’ of DNA sequencing. It is technologically reliable, widely available, and has a relatively simple workflow. The drawbacks of Sanger sequencing are: • limited throughput • lower cost-effectiveness compared to next-generation sequencing (NGS) •
Tumor Genetic Testing Germline mutations in the BRCA1 and BRCA2 genes result in a high increased lifetime risk of developing breast and ovarian cancer and, to a lesser extent, other types of cancer such as prostate cancer, pancreatic cancer and melanoma. BRCA1 and BRCA2 related susceptibility to breast and ovarian cancer (also known as hereditary cancer and ovarian syndrome)
WE FIND MUTATIONS
©2022 All right reserved Breda Genetics – Single member limited liability company, Share Capital: 10,000.00 € f.p., REA: BS – 559902, VAT Number and Tax Code: IT03749940981
We regularly send specific information for Patients and Professionals with updates and news.
No Spam, that's information.
