Hereditary predisposition to breast cancer (1): genetics

被引：7

作者：

Cohen-Haguenauer, Odile ^{[1
,2
,3
]}

机构：

[1] Serv Oncol Med, Unite Oncogenet, Pole HI-3R0, Paris, France

[2] Univ Paris 07, USPC, Fac Med, Paris, France

[3] Hop St Louis, 1 Ave Claude Vellefaux, F-75475 Paris 10, France

来源：

M S-MEDECINE SCIENCES | 2019年 / 35卷 / 02期

关键词：

PEUTZ-JEGHERS SYNDROME; LI-FRAUMENI SYNDROME; GERMLINE MUTATIONS; OVARIAN-CANCER; ATAXIA-TELANGIECTASIA; GASTRIC-CANCER; ATM MUTATIONS; BRCA2; MUTATIONS; INCREASED RISK; HISTOPATHOLOGICAL FEATURES;

D O I：

10.1051/medsci/2019003

中图分类号：

R-3 [医学研究方法]; R3 [基础医学];

学科分类号：

1001 ;

摘要：

The main objective of oncogenetics is to characterize a subpopulation of patients at high risk of cancer development at an early age in order to provide specific recommendations for an optimized follow-up and care path. Oncogenetic counselling helps to assess individual risk from a family history, By a family approach of formal genetics, the key issue is to identify families With a strong aggregation of cancers, and, in particular, suggesting a specific syndrome of inherited predisposition to cancer, This approach can lead to the proposal of germline genetic testing in search of causal mutations. As up to knots, the search for a constitutional mutation in the BRCA genes has led to the identification of a causal deleterious mutation in less than 10% of index-cases analyzed, It is therefore important to evaluate the impact of nets genes in the current panorama of inherited predisposition to breast and ovarian cancer.

引用

页码：138 / 151

页数：14

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