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Pathology Mendelian Disorders: Single-Gene Defects 2cd44577

The inheritance pattern of familial retinoblastomas is -

A
AD
B
AR
C
X linked dominant
D
X linked recessive
High-Yield Explanation
Ans. is 'a' i.e., AD Examples oflnherited Predisposition to CancerINHERITED C ANCER SYNDROMES (AUTOSOMAL DOMLNANT)GeneInherited PredispositionRBp53pl6;TNK4AAPCNF-LNF-2BRCA-1, BRCA-2MEN-1, RETMSH-2, MLH-1, MSH-6PTCHPTENLKB-1VHLRetinoblastomaLt-Fraumeni syndrome (various tumors)MelanomaFamilial adenomatous polyposis/colon cancerNeurofibromatosis 1 and 2Breast and ovarian tumorsMultiple endocrine neoplasia 1 and 2Hereditary' nonpolyposis colon cancerNevoid basal cell carcinoma syndromeCowden syndrome (epithelial cancers)Peutz-Jegher syndrome (epithelial cancers)Renal cell carcinomasINHERITED AUTOSOMAL RECESSIVE SYNDROMES OF DEFECTIVE DNAREPAERXeroderma pigmentosumAtaxia-tetangiectasiaBloom syndromeFanconi anemiaFAMILIAL CANCERSFamilial clustering of cases, but role of inherited predisposition not clear for each individualBreast cancerOvarian cancerPancreatic cancer

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