. 2018 Jul 27;8:11336. doi: 10.1038/s41598-018-29471-x

Table 3.

Somatic mutations of the predisposing gene panel in NTM affected women with a diagnosis of breast cancer.

Sample^a	Chromosome^b	Gene^c	Position^d	Nature of Mutation	Reference^e	LYM^f	Sputum^g	Amino acid Change^h
NTM-BCa03	Chr11	ATM	108175463	Missense	A	A	T	Asp > Val
	Chr2	BARD1	215632255	Missense	C	C	T	Val > Met
	Chr2	BARD1	215674224	Missense	G	G	A	Pro > Ser
	Chr13	BRCA2	32906729	Missense	A	A	C	Asn > His
	Chr17	BRIP1	59763347	Missense	A	A	G	Ser > Pro
	Chr2	CASP8	202122995	Missense	A	A	G	Lys > Arg
	Chr17	ERBB2	37884037	Missense	C	C	G	Pro > Ala
	Chr17	TP53	7579472	Missense	G	G	C	Pro > Arg
NTM-BCa11	Chr2	BARD1	215674175	Missense	G	G	A	Ala > Val
	Chr17	ERBB2	37856502	Missense	C	C	A	Ala > Glu*
	Chr16	PALB2	23646191	Missense	T	T	C	Gln > Arg
NTM-BCa12	Chr17	BRCA1	41244936	Missense	G	G	A	Pro > Leu
	Chr13	BRCA2	32906729	Missense	A	A	C	Asn > His
	Chr13	BRCA2	32914592	Missense	C	C	T	Arg > Cys
	Chr17	BRIP1	59763347	Missense	A	A	G	Ser > Pro
	Chr17	ERBB2	37879588	Missense	A	A	G	Ile > Val
	Chr17	ERBB2	37884037	Missense	C	C	G	Pro > Ala
	Chr16	PALB2	23646191	Missense	T	T	C	Gln > Arg
NTM-BCa13	Chr11	ATM	108175463	Missense	A	A	T	Asp > Val
	Chr2	CASP8	202122995	Missense	A	A	G	Lys > Arg
	Chr17	ERBB2	37879588	Missense	A	A	G	Ile > Val
	Chr8	NBN	90990479	Missense	C	C	G	Glu > Gln
	Chr19	TGFB1	41858921	Missense	G	G	A	Pro > Leu
	Chr17	TP53	7579472	Missense	G	G	C	Pro > Arg

^aNTM-BCa: Women with both NTM and a diagnosis of breast cancer; ^bChromosomal location of each of the gene exhibiting mutation; ^cName of the gene affected; ^dChromosome positions with reference to GRCh37.p13. ^eReference sequence of the human genome; ^fSequence detected in the lymphocytes DNA (LYM); ^gSequence detected in the sputum DNA; ^hCorresponding change in the amino acid. An asterisk (*) indicates for a novel variant not reported previously.