NDLI: Relationship of BRCA1 and BRCA2 mutations with cancer burden in the family and tumor incidence

Content Provider	Springer Nature Link
Author	Esteban Cardeñosa, Eva Bolufer Gilabert, Pascual Juan Jiménez, Inmaculada Palanca Suela, Sarai Barragán González, Eva González Anguix, Virginia Lerma Alejos, Enrique Chirivella González, Isabel Segura Huerta, Ángel Guillén Ponce, Carmen Martínez de Dueñas, Eduardo Cuevas Cuerda, Dolores Salas Trejo, Dolores
Copyright Year	2010
Abstract	The aim of the present study is to analyze the relationship of the incidence of mutations in the two major genes BRCA1 and BRCA2 conferring risk of breast cancer (BC) and ovarian cancer (OC) with the cancer burden in families and with the presence and age of onset of BC/OC. We included 704 index patients (IP) and 668 family members of the IP who tested positive for BRCA1/BRCA2 who were studied in the Program of Genetic Counselling in Cancer of the Valencia Community (Spain). We found 129 IPs with deleterious mutations (18.3%), 59 in BRCA1 and 70 in BRCA2, detecting 396 mutations in this kindred. The incidence of mutations and their distribution between BRCA1 and BRCA2 showed a significantly uneven incidence among the family groups (P < 0.001). We found 179 tumors in the 396 mutation carriers (45%) and detected only 11 cancers among the 272 non-mutation carriers (P < 0.001). No differences in the tumor prevalence or the age of onset of cancer between the genes among the mutation carriers were found. The mutation carriers showed a 50% probability of having BC/OC at a median age of 49 years (95% CI 46–52 years) and 78% at the age of 70 years (95% CI: 71–85%). In conclusion the family burden of BC and OC is strongly associated with the incidence of BRCAs mutations and could foretell which of the two BRCAs genes is more likely to have mutations. Mutation carriers have a 50% risk of having BC/OC by the age of 50 years.
Starting Page	291
Ending Page	295
Page Count	5
File Format	PDF
ISSN	13899600
Journal	Familial Cancer
Volume Number	9
Issue Number	3
e-ISSN	15737292
Language	English
Publisher	Springer Netherlands
Publisher Date	2010-02-21
Publisher Place	Dordrecht
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Breast cancer Ovarian cancer BRCA1/BRCA2 mutations Family selection criteria Tumor incidence Biomedicine general Epidemiology Human Genetics Cancer Research
Content Type	Text
Resource Type	Article
Subject	Genetics Cancer Research Genetics (clinical) Oncology

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4	Project PI / Joint PI	Principal Investigator and Joint Principal Investigators of the project	Dr. B. Sutradhar bsutra@ndl.gov.in Prof. Saswat Chakrabarti will be added soon
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