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Chapter 2: Diagnostic Evaluation of FA 39 anal/vulvar
40 <strong>Fanconi</strong> <strong>Anemia</strong>: Guidelines for Diagnosis and Management FA Genes and DNA Damage Response Pathway There are currently at least 13 known FA genes (Figure 1 and Table 3). 8 Table 3: FA Genes and Gene Products (XRCC9) FANCI (KIAA17 94) FANCJ (BACH1/ BRIP1) FANCL (PHF9/ POG) FANCM (Hef) FANCN (PALB2) Gene Locus Genomic DNA kB cDNA kB No. of Exons Protein kD Amino Acids Mutations % of Patients Genetics FANCA 16q24.3 80 5.5 43 163 1455 ~100 ~70 AR FANCB Xp22.31 30 2.8 10 95 859 4 rare XLR FANCC 9q22.3 219 4.6 14 63 558 10 ~10 AR FANCD1 13q12.3 70 11.4 27 380 3418 - rare AR (BRCA2) FANCD2 3p25.3 75 5 44 162 1451 5 rare AR FANCE 6p21.3 15 2.5 10 60 536 3 rare AR FANCF 11p15 3 1.3 1 42 374 6 rare AR FANCG 9p13 6 2.5 14 70 622 18 ~10 AR 15q25- 26 73 4.5 38 150 1328 ~12 rare AR 17q22.3 180 4.5 20 150 1249 15 rare AR 2p16.1 82 1.7 14 43 375 1 rare AR 14q21.3 250 6.5 22 250 2014 1 rare AR 16p12.1 38 3.5 13 130 1186 15 rare AR The protein products of eight genes form a complex which permits ubiquitination of the FANCD2 protein, which in turn interacts with downstream FA gene products in the FA/BRCA DNA repair pathway (Figure 2). Three FA genes are associated with breast cancer in heterozygotes: FANCD1/BRCA2, FANCJ/ BRIP1, and FANCN/PALB2. 9 Laboratory Test Methods to Diagnose FA Anyone who suspects FA should refer the patient to a hematologist and/or geneticist, who can arrange for an FA test to be performed by a clinically-certified laboratory with the appropriate expertise in FA testing. The specific test may vary by locale. The first test should
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Chapter 7 Endocrine Disorders in Fa
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Chapter 9 Matched Sibling Donor Hem
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Chapter 12 Novel Treatment Options
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Chapter 13 Head and Neck Squamous C
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Chapter 14 The Adult Fanconi Anemia
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