Studies on Missense Changes and Unclassified Variants in BRCA1 and BRCA2

This table was generated from our database on 15-03-2002. We will continue to add references to this database and post updates on this site regularly.

 

Gene	Exon	Nucleotide	Base Change	Codon	AA Change	Designation	Reference
BRCA1	2	151	T to C	11	Val to Ala	V11A	(7)
BRCA1	2	172	T to C	18	Met to Thr	M18T	(7)
BRCA1	2	180	A to G	21	Ile to Val	I21V	(7)
BRCA1	2	189	T to C	24	Cys to Arg	C24R	(7)
BRCA1	3	212	C to G	31	Ile to Met	I31M	(7)
BRCA1	3	229	C to G	37	Thr to Arg	T37R	(7)
BRCA1	3	234	TG to GC	39	Cys to Ala	C39A	(1)
BRCA1	3	235	G to A	39	Cys to Tyr	C39Y	(7)
BRCA1	3	240	CA to GC	41	His to Ala	H41A	(1)
BRCA1	3	243	A to G	42	Ile to Val	I42V	(7)
BRCA1	5	270	CT to GC	51	Leu to Ala	L51A	(7)
BRCA1	5	300	T to G	61	Cys to Gly	C61G	(1)
BRCA1	5	300	T to G	61	Cys to Gly	C61G	(7)
BRCA1	5	300	TG to GC	61	Cys to Ala	C61A	(1)
BRCA1	5	300	T to G	61	Cys to Gly	C61G	(9)
BRCA1	5	309	TG to GC	64	Cys to Ala	C64A	(1)
BRCA1	5	310	G to A	64	Cys to Tyr	C64Y	(7)
BRCA1	5	330	A to G	71	Arg to Gly	R71G	(7)
BRCA1	16	4801	C to T	1561	Thr to Ile	T1561I	(5)
BRCA1	16	4810	T to C	1564	Leu to Pro	L1564P	(5)
BRCA1	16	5029	C to T	1637	Pro to Leu	P1637L	(4)
BRCA1	18	5208	T to C	1697	Cys to Arg	C1697R	(8)
BRCA1	18	5214	C to T	1699	Arg to Trp	R1699W	(8)
BRCA1	18	5215	G to T	1699	Arg to Leu	R1699L	(8)
BRCA1	18	5236	G to A	1706	Gly to Glu	G1706E	(8)
BRCA1	18	5242	C to A	1708	Ala to Glu	A1708E	(4)
BRCA1	18	5242	C to A	1708	Ala to Glu	A1708E	(8)
BRCA1	18	5242	C to A	1708	Ala to Glu	A1708E	(9)
BRCA1	18	5264	C to A	1715	Ser to Arg	S1715R (5264C>A)	(8)
BRCA1	18	5273	G to T	1718	Trp to Cys	W1718C	(8)
BRCA1	20	5317	A to G	1733	Asp to Gly	D1733G	(5)
BRCA1	20	5332	G to A	1738	Gly to Glu	G1738E	(5)
BRCA1	21	5443	T to G	1775	Met to Arg	M1775R	(8)
BRCA1	21	5443	T to G	1775	Met to Arg	M1775R	(6)
BRCA1	21	5443	T to G	1775	Met to Arg	M1775R	(4)
BRCA1	23	5535	C to G	1806	Pro to Ala	P1806A	(5)
BRCA1	24	5628	T to C	1837	Trp to Arg	W1837R	(8)
BRCA1	24	5628	T to C	1837	Trp to Arg	W1837G	(8)
BRCA2	11	4486	G to T	1420	Asp to Tyr	D1420Y (G>T)	(3)
BRCA2	11	4516	A to G	1430	Thr to Ala	T1430A	(3)
BRCA2	11	4813	G to A	1529	Gly to Arg	G1529R	(2)

References

     1.    Brzovic PS, Meza JE, King MC, Klevit RE (2001) BRCA1 RING domain cancer-predisposing mutations - Structural consequences and effects on protein-protein interactions. J Biol Chem, 276: 41399-41406.

     2.    Chen CF, Chen PL, Zhong Q, Sharp ZD, Lee WH (1999) Expression of BRC repeats in breast cancer cells disrupts the BRCA2-Rad51 complex and leads to radiation hypersensitivity and loss of G(2)/M checkpoint control. J Biol Chem, 274: 32931-32935.

     3.    Davies AA, Masson JY, Mcllwraith MJ, Stasiak AZ, Stasiak A, Venkitaraman AR, West SC (2001) Role of BRCA2 in control of the RAD51 recombination and DNA repair protein. Mol Cell, 7: 273-282.

     4.    Futreal P, Liu Q, Shattuck-Eidens D, Cochran C, Harshman K, Tavtigian S, Bennett L, Haugen-Strano A, Swensen J, Miki Y, Eddington K, McClure M, Frye C, Weaver-Feldhaus J, Ding W, Gholami Z, Soederkvist P, Terry L, Jhanwar S, Berchuck A, Iglehart J, Marks J, Ballinger D, Barrett J, Skolnick M, Kamb A, Wiseman R (1994) BRCA1 mutations in primary breast and ovarian carcinomas. Science, 266: 120-122.

     5.    Hayes F, Cayanan C, Barilla D, Monteiro ANA (2000) Functional assay for BRCA1: Mutagenesis of the COOH- terminal region reveals critical residues for transcription activation. Cancer Res, 60: 2411-2418.

     6.    Miki Y, Swensen J, Shattuck-Eidens D, Futreal P, Harshman K, Tavtigian S, Liu Q, Cochran C, Bennett L, Ding W, Bell R, Rosenthal J, Hussey C, Tran T, McClure M, Frye C, Hattier T, Phelps R, Haugen-Strano A, Katcher H, Yakumo K, Gholami Z, Shaffer D, Stone S, Bayer S, Wray C, Bogden R, Dayananth P, Ward J, Tonin P, Narod S, Bristow P, Norris F, Meera Khan P, Morrison P, Rosteck P, Lai M, Barrett J, Lewis C, Neuhausen S, Cannon-Albright L, Goldgar R, Kamb A, Wiseman R, Skolnick M (1994) A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1. Science, 266: 66-71.

     7.    Ruffner H, Joazeiro CA, Hemmati D, Hunter T, Verma IM (2001) Cancer-predisposing mutations within the RING domain of BRCA1: Loss of ubiquitin protein ligase activity and protection from radiation hypersensitivity. Proc Natl Acad Sci USA, 98: 5134-5139.

     8.    Williams RS, Green R, Glover JNM (2001) Crystal structure of the BRCT repeat region from the breast cancer-associated protein BRCA1. Nature Struct Biol, 8: 838-842.

     9.    Zhong Q, Chen CF, Li S, Chen YM, Wang CC, Xiao J, Chen PL, Sharp ZD, Lee WH (1999) Association of BRCA1 with the hRad50-hMre11-p95 complex and the DNA damage response. Science, 285: 747-750.