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Mutation scanning for BRCA1, BRCA2, hMLH1 and MSH2

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RQ-PCR analysis of the BCR-ABL fusion transcript

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BRCA1 Controls

Reference reagents - BRCA1 Controls

	Pool 1: Wild type only
	Pool 2: Heterozygous mutation controls
	Pool 3: polymorphism controls
All plasmid pools have same cloned fragments

Exon	Cloned fragment	Nucleotide Change	Amino Acid Change	Polymorphism
2	IVS1 –226 to IVS2 +195	34 C>T	Q12X	1-134 T>C
3	IVS2 –207 to IVS3 +288	81 -1 G>A	Splice	NONE
5	IVS4 –181 to IVS5 +180	181 T>G	C61G	NONE
6	IVS5 –167 to IVS6 +168	213 -11 T>G	Splice	NONE
7	IVS6 –188 to IVS7 +168	314 A>G	Y105C	NONE
8	IVS7 –173 to IVS8 +115	505 C>T	Q169X	442-34 T>C
9	IVS8 –178 to IVS9 +165	557 C>A	S186Y	NONE
10	IVS9 –218 to IVS10 +104	612 G>C	L204F	NONE
11	IVS10 –294 to IVS11 +75	880A>T 1389A>T 1701T>A 1935T>C 2068A>T 2581T>C 2825C>G 3066A>T 3449C>A 3884T>A	K294X K463N N567K S645S K690X F861L A942G T1022T P1150H L1295X	1067 A>G (B) 2082 C>T 2311 T>C 2612 C>T 3113 A>G 3548 A>G
12	IVS11 –148 to IVS12 +170	4117 G>T	E1373	NONE
13	IVS12 –175 to IVS13 +149	4327 C>T	R1443X	4308 T>C
14	IVS13 –167 to IVS14 +206	4389 C>A	Y1463X	NONE
15	IVS14 –142 to IVS15 +251	4618 G>T	E1540X	NONE
16	IVS15 –142 to IVS16 +116	4689 C>G	Y1563X	4837G>A
17	IVS16 –125 to IVS17 +202	4987 -1 G>A	Splice	NONE
18	IVS17 –108 to IVS18 +280	5109 T>G	Y1703X	5075-53 C>T
19	IVS18 –172 to IVS19 +184	5179 A>T	K1727X	NONE
20	IVS19 –143 to IVS20 +278	5231 G>C	R1744R	NONE
21	IVS20 –149 to IVS21 +204	5278 -1 G>A	Splice	NONE
22	IVS21 –141 to IVS22 +237	5346 G>A	W1782X	NONE
23	IVS22 –151 to IVS23 +200	5444 G>A	W1815X	NONE
24	IVS23 –157 to 5909	5503 C>T	R1835X	NONE

Last Updated: 30 July, 2008 by G. Watkins

© 2006 National Genetics Reference Laboratory (Wessex), Salisbury District Hospital, Salisbury SP2 8BJ; Tel: +44 (0)1722 429080; E-mail:ncpc@soton.ac.uk