Table 1.

Summary of patients diagnosed with mild ataxia–telangiectasia after OR ^a to adjuvant radiotherapy for breast cancer

Study	Stankovic et al. (1998)	Fang et al. (2010)	Mandigers et al. (2011)	Byrd et al. (2012)	This study
Gender	Female	Female	Female	Female	Female
Age at A–T diagnosis (years)	44	50	42	44	43
Type of breast cancer	Right side invasive ductal carcinoma at 44 years, contra‐lateral intraductal carcinoma in situ at 48 years	Not reported	Ductal carcinoma (T2N2M0, ER+, Her2+) at 42 years	Right side carcinoma (T2N2, G2, ER+) at 44 years	Left side invasive ductal carcinoma (T2N1M0, G3, ER+, PR+, HER2‐) at 39 years
Type of OR a	Severe acute and late	Severe late	Severe acute	Severe acute and late	Severe acute and late
Variants ATM (NG_009830.1, NM_000051.3, NP_000042.3)	Homozygous: c.[7271T>G];[7271T>G], p.[(Val2424Gly)];[(Val2424Gly)]	Bi‐allelic: c.[1918A>T];[1066‐6T>G], p.[(Lys640*)];[(?)] skipping of exon 11 and premature stop in exon 12	“single variant”: c.[8147T>C];[?] p.[(Val2716Ala)];[?]	Bi‐allelic: c.[8672G>A];[1A>G], p.[(Gly2891Asp)];[(?)]	Bi‐allelic: c.[2251‐4A>G];[3576G>A] r.[2250_2251instag];[3403_3576del], p.[(Ser751*)]; [(Ser1135_Lys1192del)]
Protein level	Normal	Reduced	Not reported	Reduced	Reduced
Kinase activity	Not reported	Residual	Not reported	Residual	Residual
Neurological features	Truncal ataxia and progressive dysarthria since early 20s, peripheral ataxia and oculomotor apraxia at 48 years	Not reported	Unexplained, childhood‐onset choreoathetosis	Only a mild axonal polyneuropathy	Psychomotor restlessness with some parakinesia, dystonic posture of the head with intermittent irregular tremor, mild dysarthria
Other features	Minimal telangiectasia, ulcerative proctitis	not reported	Discrete oculocutaneous telangiectasias, chronic myeloid leukemia 3 years later (treated), she died a year after without evidence of cancer recurrence	None	None
Serum level of alpha‐fetoprotein	Normal b	Not reported	Elevated (146.4 U/ml)	Not reported	Elevated (55 U/ml)
Family history	Mild childhood‐onset A–T in a brother, similar neurological course and invasive ductal carcinoma of the right breast at the age of 50 years in a sister, all harboring the same homozygous variant	Had relatives diagnosed with breast cancer	Not reported	Not reported	Severe late onset ataxia in a brother, breast cancer at the age of ~40 years in two sisters, the brother and a sister were tested and harbored the same bi‐allelic variants

^aOR: overreactions in the surrounding normal tissues after radiotherapy.

^bThe value and the age of sampling was not reported.