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Incidence of colorectal cancer in BRCA1 and BRCA2 mutation carriers: results from a follow-up study.BRCA1 和 BRCA2 基因突变携带者结直肠癌的发病率:一项随访研究的结果。
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Identification of the deleterious 2080insA BRCA1 mutation in a male renal cell carcinoma patient from a family with multiple cancer diagnoses from Pakistan.从巴基斯坦一个有多种癌症家族史的男性肾细胞癌患者中鉴定出有害的 2080insA BRCA1 突变。
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Breast cancer risks in women with a family history of breast or ovarian cancer who have tested negative for a BRCA1 or BRCA2 mutation.有乳腺癌或卵巢癌家族史且BRCA1或BRCA2基因突变检测呈阴性的女性患乳腺癌的风险。
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符合BRCA检测条件的家族的遗传性和非遗传性分支:其他部位的癌症

Hereditary and non-hereditary branches of family eligible for BRCA test: cancers in other sites.

作者信息

Digennaro M, Sambiasi D, Tommasi S, Pilato B, Diotaiuti S, Kardhashi A, Trojano G, Tufaro A, Paradiso A V

机构信息

Centro Studi Tumori Eredo-familiari. Istituto Tumori G Paolo II,IRCCS, 70124 Bari, Italy.

Laboratorio Genetica Molecolare; Istituto Tumori G Paolo II, IRCCS, 70124 Bari, Italy.

出版信息

Hered Cancer Clin Pract. 2017 May 25;15:7. doi: 10.1186/s13053-017-0067-8. eCollection 2017.

DOI:10.1186/s13053-017-0067-8
PMID:28559958
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5445420/
Abstract

BACKGROUND

The analysis of relationships of BRCA alterations with cancer at sites other than breast/ovary may provide innovative information concerning BRCA pathogenic role and support additional clinical decisions. Aim of this study is to compare presence of cancers in other sites in members of hereditary (H) and not-hereditary (nH) branches of families of patients eligible to BRCA test.

METHODS

We retrospectively analyzed the incidence of cancer in other sites in members of 136 families eligible for hereditary breast/ovarian cancer genetic counseling at Centro Studi Tumori Eredo-familiari of our Institute; we compared the frequency of other cancer types in 1156 members of the H-branch with respect to 1062 members of nH-Branch. The families belonging to a proband case and with informative members in at least three generation entered the present study.

RESULTS

The frequency of other Cancers in members of H-branch was significantly higher than that in members of nH-branch (161 vs 75 cancers;  < 0.0001). In specific, members of H-branch had a significantly higher probability to have more lung cancer (38 vs 9; < 0.0006), kidney cancer (23 vs 5; < 0.0005), liver cancer (13 vs 3; < 0.02) and larynx cancer (14 vs 4; < 0.03). Interestingly, to belong to H-branch resulted significantly associated with a higher probability of lung cancer (OR 4.5; 2.15-9.38 95%C.I.), liver cancer (OR: 4.02; 1.14-14.15 95% C.I.) and larynx cancer (OR:3.4; 1.12-10.39 95%C.I.) independently from Gender and Age.

CONCLUSIONS

Members belonging to the H-branch of families of patients eligible to BRCA test have a higher risk of tumors in lung, larynx and liver. Clinicians should consider the increased risk for these cancers to activate prevention/early diagnosis practices in members of families with breast/ovarian familial cancer syndrome.

摘要

背景

分析乳腺癌易感基因(BRCA)改变与乳腺/卵巢以外部位癌症的关系,可能会提供有关BRCA致病作用的创新信息,并支持更多临床决策。本研究的目的是比较符合BRCA检测条件的患者家族中遗传(H)分支和非遗传(nH)分支成员在其他部位患癌情况。

方法

我们回顾性分析了在我院肿瘤遗传研究中心符合遗传性乳腺癌/卵巢癌遗传咨询条件的136个家族成员中其他部位癌症的发病率;我们比较了H分支的1156名成员和nH分支的1062名成员中其他癌症类型的发生频率。属于先证者病例且至少三代中有信息丰富成员的家族纳入本研究。

结果

H分支成员中其他癌症的发生频率显著高于nH分支成员(161例对75例癌症;<0.0001)。具体而言,H分支成员患肺癌(38例对9例;<0.0006)、肾癌(23例对5例;<0.0005)、肝癌(13例对3例;<0.02)和喉癌(14例对4例;<0.03)的可能性显著更高。有趣的是,独立于性别和年龄,属于H分支与患肺癌(比值比4.5;95%置信区间2.15 - 9.38)、肝癌(比值比:4.02;95%置信区间1.14 - 14.15)和喉癌(比值比:3.4;95%置信区间1.12 - 10.39)的较高可能性显著相关。

结论

符合BRCA检测条件的患者家族中H分支成员患肺癌、喉癌和肝癌的风险更高。临床医生应考虑到这些癌症风险的增加,以便在患有乳腺/卵巢家族性癌症综合征的家族成员中启动预防/早期诊断措施。