Fanconi anemia

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, […]

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Breast and ovarian cancer, hereditary

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 […]

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Current strategies in BRCA1/BRCA2 molecular 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 breast and ovarian […]

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