Feng, Xiaodong_ Xie, Hong-Guang - Applying pharmacogenomics in therapeutics-CRC Press (2016)

122 Applying Pharmacogenomics in Therapeutics
TABLE 5.3
Examples of Inherited Cancer Susceptibility Syndromes
Cancer Hereditary Syndrome
Breast and
ovary
Hereditary breast and ovarian
cancer
Major
Genes Gene Function
BRCA1,
BRCA2
Mode of
Inheritance
Tumor suppressor Dominant High-penetrance
mutations
Li–Fraumeni syndrome P53 Tumor suppressor Dominant
Cowden syndrome (breast) PTEN Tumor suppressor Dominant
HNPCC/Lynch syndrome
(ovary)
Ataxia telangiectasia (breast
and ovary)
Peutz–Jeghers syndrome
(breast)
Colorectal HNPCC/Lynch syndrome
(ovary)
MLH1,
MSH2,
MSH6,
PMS2
DNA repair Dominant High-penetrance
mutations
ATM DNA repair Recessive
STK11 Tumor suppressor Dominant
CHEK2 Tumor suppressor Dominant CHEK2 c.1100delC
(intermediatepenetrance
mutations)
MLH1,
MSH2,
MSH6,
PMS2
DNA repair Dominant High-penetrance
mutations
Penetrance of Example
Variants Intervention
Mammography, MRI
screening, riskreducing
surgery
None proven
Endoscopy,
prophylactic
colectomy after
diagnosis of
malignancy
(Continued)