Genetics Program, Instituto Nacional de Câncer, Rio de Janeiro, Brazil.
Fam Cancer. 2012 Dec;11(4):657-60. doi: 10.1007/s10689-012-9551-5.
We have screened BRCA2 c.156_157insAlu founder mutation in a cohort of 168 women with diagnosis of breast cancer referred for genetic counseling because of risk of being carriers of hereditary breast and ovarian cancer syndrome. Portuguese founder mutation BRCA2 c.156_157insAlu was identified in three unrelated breast cancer probands. Genotyping identified a common haplotype between markers D13S260 and D13S171, and allele sizes were compatible to those described in the Portuguese families. Allele sizes of marker D13S1246, however, were concordant in two families, suggesting that the haplotype may be larger in a subset of families. Tumor phenotypes in Brazilian families seem to reinforce the high prevalence of breast cancer among affected males. However, an apparent excess of gastrointestinal and tongue neoplasias were also observed in these families. Although these tumors are not part of the phenotypic spectrum of hereditary breast and ovarian cancer syndrome, they might be accounted for by other risk alleles contained in the founder haplotype region.
我们对 168 名因遗传性乳腺癌和卵巢癌综合征风险而接受遗传咨询的乳腺癌患者进行了 BRCA2 c.156_157insAlu 创始人突变筛查。在 3 名无关联的乳腺癌先证者中发现了葡萄牙创始人突变 BRCA2 c.156_157insAlu。基因分型在标记物 D13S260 和 D13S171 之间鉴定出一个常见的单倍型，等位基因大小与葡萄牙家族中描述的一致。然而，在两个家族中，标记物 D13S1246 的等位基因大小是一致的，这表明该单倍型在一部分家族中可能更大。巴西家族的肿瘤表型似乎证实了受影响男性中乳腺癌的高患病率。然而，在这些家族中也观察到胃肠道和舌部肿瘤的明显增加。尽管这些肿瘤不属于遗传性乳腺癌和卵巢癌综合征的表型谱，但它们可能是由创始人单倍型区域中包含的其他风险等位基因引起的。
