ATM

Familial non-Hodgkin lymphoma

Non-Hodgkin lymphoma (NHL) is an immunological cancer developing from lymphocytes. It mainly manifests as painless surface lymph nodes swelling (neck, armpit, groin), but sometimes it can also occur in the digestive system, in the central nervous system, in the bone marrow or in the skin. Several histopathological subtypes exist, which can only be differentiated on the

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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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Free Mutation: ATM gene, c.4388T>G (p.Phe1463Cys)

Submission date 3 Oct 2016 Gene ATM Mutation (gDNA level) chr11-108160480-T-G Mutation (cDNA level) c.4388T>G Reference sequence NM_000051.3 Prediction at protein level F1463C (p.Phe1463Cys) Mutation type missense Exon/intron location exon 29 of 63 Amino acid location aa 1463 of 3057 Gene associated phenotype(s) Ataxia-telangiectasia; Breast cancer, susceptibility to ClinVar ID 127388 dbSNP ID rs138327406 Clinical

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