A role of BRCA1 and BRCA2germline mutations in breast cancer susceptibility within Sardinian population

Palomba, Grazia; Loi, Angela; Uras, Antonella; Fancello, Patrizia; Piras, Giovanna; Gabbas, Attilio; Cossu, Antonio; Budroni, Mario; Contu, Antonio; Tanda, Francesco; Farris, Antonio; Orrù, Sandra; Floris, Carlo; Pisano, Marina; Lovicu, Mario; Santona, Maria Cristina; Landriscina, Gennaro; Crisponi, Laura; Palmieri, Giuseppe; Monne, Maria

doi:10.1186/1471-2407-9-245

BMC Cancer

Table 3 Other genetic variants in BRCA1 and BRCA2

From: A role of BRCA1 and BRCA2germline mutations in breast cancer susceptibility within Sardinian population

Gene	Exon	Nucleotide	Codon	Intron	Base change	Mutation type	Nomenclature	BIC citation/Clinical importance
BRCA1		561–34		7	T > C		IVS7-34 T>C	YES/no
		667–57		8	delT		IVS8-57 delT	YES/no
	11	2196	693		G > A	missense	D693N	YES/no
	11	2731	871		C > T	missense	P871L	YES/no
	11	3232	1038		A > G	missense	E1038G	YES/no
	11	3667	1183		A > G	missense	K1183R	YES/no
	15	4654	1512		G > T	missense	S1512I	YES/no
	16	4956	1613		A > G	missense	S1613G	YES/no
				16	A > G		IVS16-68 A>G	YES/no
				16	A > G		IVS16-92 A>G	YES/no
	11	1186	356		A > G	missense	Q356R	YES/unknown
	11	1822	568		C > T	missense	P568L	YES/unknown
	11	2596	826		C > A	missense	T826K	YES/unknown
	11	4158	1347		A > G	missense	R1347G	YES/unknown
	11	4173	1352		G > A	missense	E1352K	YES/unknown
	16	5075	1652		G > A	missense	M1652I	YES/unknown
				17	C > T		IVS17-53 C>T	YES/unknown
				18	G > A		IVS18+65 G>A	YES/unknown
	5	287	56		A > T	missense	K56N	NO/unknown
	5	288	57		G > A	missense	G57R	NO/unknown
				17	G > T		IVS17-53 G>T	NO/unknown
				20	T > C		IVS20+34 T>C	NO/unknown
	22	5469	1784		G > A	missense	W1784I	NO/unknown
BRCA2	5'UTR	203			G > A	missense	203G>A	YES/no
	10	1379	384		C > T	missense	S384F	YES/no
	10	1093	289		A > C	missense	N289H	YES/no
	11	3199	991		A > G	missense	N991D	YES/no
	11	4469	1414		C > T	missense	T1414M	YES/no
	11	4486	1420		G > T	missense	D1420Y	YES/no
				16	T > C		IVS16-14 T>C	YES/no
	20	8731	2835		T > C	missense	S2835P	YES/no
	22			21	T > C		IVS21-66 T>C	YES/no
	27	10204	3326		A > T	nonsense	K3326X	YES/no
	1	353	42		C > T	missense	Y42C	YES/unknown
	10	1409	394		A > C	missense	E394A	YES/unknown
	11	3623	1132		A > G	missense	K1132R	YES/unknown
	11	6328	2034		C > T	missense	R2034C	YES/unknown
	11	6359	2044		G > C	missense	G2044A	YES/unknown
	25			24	T > C		IVS24-16 T>C	YES/unknown
	10	1343	372		A > C	missense	W372N	NO/unknown
				2	G > A		IVS2+65 G>A	NO/unknown
				4	A > C		IVS4+67 A>C	NO/unknown
		1042	272		A > T	missense	N272I	NO/unknown
	11	5967	1910		A > T	missense	N1910I	NO/unknown
				14	C > T		IVS14+53 C>T	NO/unknown
	14	7863	2546		T > C	missense	S2546P	NO/unknown
	16	7975	2583		G > A	missense	D2583N	NO/unknown
				16	T > A		IVS16-32 T>A	NO/unknown

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ISSN: 1471-2407

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