Low expression levels of ATM may substitute for CHEK2 /TP53 mutations predicting resistance towards anthracycline and mitomycin chemotherapy in breast cancer

Table 2 ATM mutations

Mutation	Exon	A. A change	Cohort 1 Dox Fumi n(%)	Cohort 2 Epi n(%)	Cohort 3 Pac n(%)	Germ line	Previous obs.¹
C146G	4	Ser 49 Cys	3 (4.3)	0 (0.0)	1 (2.6)	ND	Yes^2,3,4
C735T	8	-	2 (2.9)	4 (9.8)	1 (2.6)	Yes	Yes^2,3,4
A737C	8	Asn 246 Thr	0 (0.0)	1 (2.4)	0 (0.0)	ND	No⁵
C1009T	9	Arg 337 Cys	1 (1.4)	0 (0.0)	0 (0.0)	No	No⁵
A1792G	12	Ile 598 Val	1 (1.4)	0 (0.0)	0 (0.0)	Yes	No⁵
T2572C	18	Phe 858 Leu	2 (2.9)	4 (9.8)	0 (0.0)	Yes	Yes^2,3,4
C3161G	23	Pro 1054 Arg	5 (7.1)	5 (12.2)	1 (2.6)	Yes	Yes^2,3,4
A3341G	24	Lys 1114 Arg	0 (0.0)	0 (0.0)	1 (2.6)	Yes	No⁵
C4258T	30	Leu 1420 Phe	3 (4.3)	2 (4.9)	0 (0.0)	Yes	Yes^2,3,4
T4324C	30	Tyr 1442 His	1 (1.4)	0 (0.0)	0 (0.0)	Yes	No⁵
C4578T	31	-	8 (11.4)	5 (12.2)	9 (23.7)	Yes	Yes^2,3,4
A5071C	35	Ser 1691 Arg	1 (1.4)	0 (0.0)	0 (0.0)	ND	Yes^2,3,4
G5557A	38	Asp 1853 Asn	13 (18.6)	9 (22.0)	11 (28.9)	Yes	Yes^2,3,4
T5793C	40	-	1 (1.4)	1 (2.4)	0 (0.0)	ND	Yes^2,3,4
C6217G	44	Leu 2073 Val	0 (0.0)	1 (2.4)	0 (0.0)	ND	No⁵
T7390C	51	Cys 2464 Arg	0 (0.0)	0 (0.0)	1 (2.6)	Yes	Yes^2,3,4
del A 8432	59	Frameshift	0 (0.0)	0 (0.0)	1 (2.6)	ND	No⁵

Overview of the ATM mutations observed in the cohorts of Doxorubicin/Fumi (n = 70), Epirubicin (n = 41) or Paclitaxel (n = 38) treated breast cancer patients.
¹ Data from Dörk et al., Thorstenson et al., Bretsky et al. and the Leiden Open Variation Database [29]
¹ Previously observed in Breast cancer
³ Common variant (considered non-pathogenic)
⁴ Pathogenic role unclear

ISSN: 1465-542X