Table 2 TACC3 sequence changes detected in members of the Gilda Radner registry

3

TCA>TTA

c.278C>T

Ser93Leu

Hydrophilic to hydrophobic

In proband (ovarian cancer), and mother (uterine cancer); not in two unaffected sisters.

4

GAG> AAG

c.427G>A

Glu143Lys

Acidic to basic

Polymorphism

4

AGC>AGT

c.531C>T

Ser177Ser

Silent

Polymorphism

4

Lys225_Cys236del

Removal of one 12 amino acid repeat

Polymorphism

4

GGC>GGG

c.1086C>G

Gly362Gly

Silent

Polymorphism

4

Ccg>Ctg

c.1250C>T

Pro417Leu

Potential tertiary structure change

Polymorphism

5

GCG>GTG

c.1406C>T

Ala469Val

Polymorphism

6

GGG>GAG

c.1541G>A

Gly514Glu

Small hydrophobic to acidic

Only in affected sibling, not in unaffected sister or daughter.

9

TTC>TTT

c.1809T>C

Phe603Leu

Aromatic to aliphatic

Polymorphism

11

CAC>CAT

c.1998C>T

His666His

Silent

Polymorphism

16

c.2621T>A

3' untranslated region. Polymorphism