Table 11.4Hereditary Cancer Syndromes for which Clinical Genetic Testing Is Available

Cancer SyndromeAssociated Cancers and Other FeaturesGeneMode of Inheritance
Breast-OvarianEarly-onset breast cancerBRCA1Autosomal
Cancer syndromeOvarian cancerBRCA2dominant
Prostate cancer
Male breast cancer
HereditaryEarly onset colon cancerMLH1Autosomal
dominant
NonpolyposisEndometrial cancerMSH2
colorectalStomach cancerMSH6
cancerOvarian cancer
Other genitourinary cancers
Absence of polyposis
FamilialPolyposis (> 100 colon polyps)APCAutosomal
adenomatousEarly-onset colon cancerdominant
polyposisDesmoid tumors
Epidermoid tumors
Li-FraumeniEarly-onset breast cancerTP53Autosomal
syndromeChildhood sarcomadominant
Brain cancer
Leukemia
Adrenocortical cancer
Von Hippel-LindauRenal cell cancerVHLAutosomal
Hemangioblastomas ofdominant
cerebellum brain stem, spine
Retinal angioma
Pheochromocytoma

From: Chapter 11, Genetic Predisposition to Cancer

Cover of Holland-Frei Cancer Medicine
Holland-Frei Cancer Medicine. 5th edition.
Bast RC Jr, Kufe DW, Pollock RE, et al., editors.
Hamilton (ON): BC Decker; 2000.
© 2000, BC Decker Inc.

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