Breast and other cancers in 1445 blood relatives of 75 Nordic patients with ataxia telangiectasia.
Breast and other cancers in 1445 blood relatives of 75 Nordic patients with ataxia telangiectasia.
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DOI：
10.1038/sj.bjc.6602658
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发表时间：
2005-07-25
影响因子：
8.8
通讯作者：
Tucker, M
中科院分区：
文献类型：
--
作者：
Olsen, JH;Hahnemann, JMD;Borresen-Dale, AL;Tretli, S;Kleinerman, R;Sankila, R;Hammarström, L;Robsahm, T;Kääriäinen, H;Bregård, A;Brondum-Nielsen, K;Yuen, J;Tucker, M
流行病学研究一直表明，共济失调毛细血管扩张症（AT）患者的女性血亲中乳腺癌的发病率升高，AT是一种罕见的常染色体隐性遗传病。AT家族的大部分成员是ATM（共济失调毛细血管扩张突变）中AT引起基因突变的携带者，并且已经假设这些健康的携带者易患乳腺癌。这是一个扩展和扩大的后续研究癌症的发病率在血液亲属的75例患者证实AT在66个北欧家庭。通过人口登记联系确定了血亲，并根据每个国家的癌症登记档案确定了癌症的发生率，并与国家发病率进行了比较。亲属ATM突变携带者的概率分配的综合信息在家庭中的位置，血缘关系，如果有的话，和补充携带者筛选在一些家庭。在AT患者的1445名血亲中，观察到225例癌症，预期为170.4例，标准化发病率比（SIR）为1.3（95%置信区间（CI），1.1-1.4）。浸润性乳腺癌发生在34名女性亲属中（SIR，1.7; 95%CI，1.2-2.4），21名女性在55岁之前被诊断出浸润性乳腺癌（SIR，2.9; 95%CI，1.8-4.5），包括7名先证者的母亲（SIR，8.1; 95%CI，3.3-17）。当排除母亲群体时，每个家庭成员分配的突变携带概率与乳腺癌风险程度之间没有观察到明显的关系。我们的结论是，在66个北欧AT家庭中发现的女性乳腺癌风险增加似乎仅限于55岁以下的女性，主要是由于母亲组的风险非常高。在这项研究和其他研究中，母亲患乳腺癌的风险，而不是其他可能的突变携带者，这一发现对ATM杂合性与简单因果关系的假设提出了质疑。
Epidemiological studies have consistently shown elevated rates of breast cancer among female blood relatives of patients with ataxia telangiectasia (AT), a rare autosomal recessive disease. A large proportion of the members of AT families are carriers of AT-causing gene mutations in ATM (Ataxia Telangiectasia Mutated), and it has been hypothesised that these otherwise healthy carriers are predisposed to breast cancer. This is an extended and enlarged follow-up study of cancer incidence in blood relatives of 75 patients with verified AT in 66 Nordic families. Blood relatives were identified through population registry linkages, and the occurrence of cancer was determined from cancer registry files in each country and compared with national incidence rates. The ATM mutation carrier probabilities of relatives were assigned from the combined information on location in family, consanguinity, if any, and supplementary carrier screening in some families. Among the 1445 blood relatives of AT patients, 225 cancers were observed, with 170.4 expected, yielding a standardised incidence ratio (SIR) of 1.3 (95% confidence interval (CI), 1.1–1.4). Invasive breast cancer occurred in 34 female relatives (SIR, 1.7; 95% CI, 1.2–2.4) and was diagnosed in 21 women before the age of 55 years (SIR, 2.9; 95% CI, 1.8–4.5), including seven mothers of probands (SIR, 8.1; 95% CI, 3.3–17). When the group of mothers was excluded, no clear relationship was observed between the allocated mutation carrier probability of each family member and the extent of breast cancer risk. We concluded that the increased risk for female breast cancer seen in 66 Nordic AT families appeared to be restricted to women under the age of 55 years and was due mainly to a very high risk in the group of mothers. The findings of breast cancer risk in mothers, but not other likely mutation carriers, in this and other studies raises questions about the hypothesis of a simple causal relationship with ATM heterozygosity.
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影响因子：
7.2
作者：
Cha, D;Khosrotehrani, K;Johnson, KL
通讯作者：
Johnson, KL
影响因子：
6.4
作者：
EWERTZ, M;DUFFY, SW;TULINIUS, H
通讯作者：
TULINIUS, H
影响因子：
8.8
作者：
Janin, N;Andrieu, N;Stoppa-Lyonnet, D
通讯作者：
Stoppa-Lyonnet, D
影响因子：
3.9
作者：
Bernstein, JL;Teraoka, S;Concannon, P
通讯作者：
Concannon, P
影响因子：
8.8
作者：
Inskip, HM;Kinlen, LJ;Arlett, CF
通讯作者：
Arlett, CF