© Springer International Publishing Switzerland 2016Debra G.B. Leonard (ed.)Molecular Pathology in Clinical Practice10.1007/978-3-319-19674-9_33 33. Breast Cancer Carolyn Mies1   (1) Genomic Health Inc., 301 Penobscot Drive, Redwood City, CA 94063, USA     Carolyn Mies Email: cmies@genomichealth.com Abstract…

Gene Study 1 (%) Study 2 (%) Study 3 a (%) SDHB 16 (8.4) 24 (4.8) 38 (24.7) SDHC 2 (1.1) 4 (0.8) 2 (1.3) SDHD 3 (1.6) 47 (9.4)…

Skin cancer type Associated syndromes Cutaneous basal cell carcinoma Basal cell nevus syndrome (BCNS)  Bazex syndrome  Rombo syndrome  Brooke-Spiegler syndrome  Muir-Torre syndrome  Xeroderma pigmentosum Squamous cell carcinoma Xeroderma pigmentosum  Ferguson-Smith…

© Springer International Publishing Switzerland 2016Debra G.B. Leonard (ed.)Molecular Pathology in Clinical Practice10.1007/978-3-319-19674-9_26 26. Von Hippel-Lindau Disease Catherine A. Stolle1   (1) Department of Pathology and Laboratory Medicine, The Children’s Hospital of Philadelphia, ARC 714G, 34th and…

© Springer International Publishing Switzerland 2016Debra G.B. Leonard (ed.)Molecular Pathology in Clinical Practice10.1007/978-3-319-19674-9_23 23. Familial Adenomatous Polyposis and Turcot and Peutz–Jeghers Syndromes Kandelaria M. Rumilla1   (1) Department of Laboratory Medicine and Pathology, Laboratory Genetics, Mayo Clinic,…

© Springer International Publishing Switzerland 2016Debra G.B. Leonard (ed.)Molecular Pathology in Clinical Practice10.1007/978-3-319-19674-9_22 22. Inherited Breast Cancer Rachel Michaelson-Cohen1, 2, Rachel Beeri2, Eliahu Golomb3 and Ephrat Levy-Lahad1, 2   (1) Hebrew University Medical School, Jerusalem, Israel (2) Medical Genetics…

Gene Spectrum of clinical features MOI Location/function HCM DCM ARVC RCM LVNC Other ABCC9   X     AD Potassium channel ACTC1 X X  X X  AD Sarcomere ACTN2 X X     AD…

Figure 13.1 Examples of allelic configurations and their interpretations in carrier testing (a–d) and diagnostic testing (e–g) when classic or non-classic mutations are detected. *c.350G>A (p.R117H) and c.1210-12T (intron 8…

mtDNA mutations Gene Associated disorders m.583G>A MT–TF MELAS, mitochondrial myopathy and exercise intolerance [27] m.1494C>T MT–RNR1 Maternally inherited deafness or aminoglycoside-induced deafness [27] m.1555A>G MT–RNR1 Account for majority of patients…

CDG subtype Type of defect PMM2-CDG (CDG-Ia)* N-glycosylation MPI-CDG (CDG-Ib)* N-glycosylation ALG6-CDG (CDG-Ic)* N-glycosylation ALG3-CDG (CDG-Id)* N-glycosylation ALG12-CDG (CDG-Ig)* N-glycosylation ALG8-CDG (CDG-Ih)* N-glycosylation ALG2-CDG (CDG-Ii)* N-glycosylation DPAGT1-CDG (CDG-Ij)* N-glycosylation ALG1-CDG…