Literature DB >> 24156927

Central European BRCA2 mutation carriers: birth cohort status correlates with onset of breast cancer.

Muy-Kheng M Tea1, Regina Kroiss2, Daniela Muhr3, Christine Fuerhauser-Rappaport3, Peter Oefner4, Teresa M Wagner5, Christian F Singer3.   

Abstract

BACKGROUND: Mutations in brca1 and 2 genes lead to a significant increase in the lifetime risk of developing breast (BC) and ovarian cancer (OC). There are indications that birth cohort can influence the cancer risk in brca1 mutation carriers. Therefore, we investigated the risks for BC and OC associated with brca2 mutations in a cohort of female mutation carriers of a genetically heterogeneous Central European population. PATIENTS AND METHODS: This study included 246 women in whom a functional mutation in the brca2 gene had been identified at our institution. At the time of analysis, 153 women had developed cancer (142 BC, 9 OC, 2 BC and OC). Risks were estimated using the product limit method. The log rank test was used to compare different strata.
RESULTS: After correction for risk-reducing surgeries, the cumulative risk of developing cancer to age 70 was found to be 88% for BC (95% CI 81-95%) and 31% for OC (95% CI 17-45%). Female brca2 mutation carriers born in 1958 or later were at a significantly higher risk of developing BC at a younger age (p<0.001), while no such age cohort-dependent correlation was found for OC.
CONCLUSION: The age cohort-dependent early onset in BC in women born after 1958 strongly suggests the importance of exogenous factors such as lifestyle modification while this does not seem to be the case for OC. Female brca2 mutation carriers should be counseled about their age cohort-dependent breast cancer risk.
Copyright © 2013 Elsevier Ireland Ltd. All rights reserved.

Entities:  

Keywords:  BRCA2; Breast cancer risk; Hereditary breast and ovarian cancer; Penetrance of BRCA2

Mesh:

Substances:

Year:  2013        PMID: 24156927     DOI: 10.1016/j.maturitas.2013.09.012

Source DB:  PubMed          Journal:  Maturitas        ISSN: 0378-5122            Impact factor:   4.342


  7 in total

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2.  Changes of Socio-demographic data of clients seeking genetic counseling for hereditary breast and ovarian cancer due to the "Angelina Jolie Effect".

Authors:  Christine Staudigl; Georg Pfeiler; Katharina Hrauda; Romana Renz; Andreas Berger; Renate Lichtenschopf; Christian F Singer; Muy-Kheng M Tea
Journal:  BMC Cancer       Date:  2016-07-08       Impact factor: 4.430

3.  Pathogenic variant burden in the ExAC database: an empirical approach to evaluating population data for clinical variant interpretation.

Authors:  Yuya Kobayashi; Shan Yang; Keith Nykamp; John Garcia; Stephen E Lincoln; Scott E Topper
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4.  The Importance of Extended Analysis Using Current Molecular Genetic Methods Based on the Example of a Cohort of 228 Patients with Hereditary Breast and Ovarian Cancer Syndrome.

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5.  Whole-exome sequencing is a powerful approach for establishing the etiological diagnosis in patients with intellectual disability and microcephaly.

Authors:  Patrick Rump; Omid Jazayeri; Krista K van Dijk-Bos; Lennart F Johansson; Anthonie J van Essen; Johanna B G M Verheij; Hermine E Veenstra-Knol; Egbert J W Redeker; Marcel M A M Mannens; Morris A Swertz; Behrooz Z Alizadeh; Conny M A van Ravenswaaij-Arts; Richard J Sinke; Birgit Sikkema-Raddatz
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6.  Effect of lifestyle and reproductive factors on the onset of breast cancer in female BRCA 1 and 2 mutation carriers.

Authors:  Viktoria Rieder; Mohamed Salama; Lena Glöckner; Daniela Muhr; Andreas Berger; Muy-Kheng Tea; Georg Pfeiler; Christine Rappaport-Fuerhauser; Daphne Gschwantler-Kaulich; Sigrid Weingartshofer; Christian F Singer
Journal:  Mol Genet Genomic Med       Date:  2015-12-10       Impact factor: 2.183

7.  Screening of BRCA1/2 genes mutations and copy number variations in patients with high risk for hereditary breast and ovarian cancer syndrome (HBOC).

Authors:  Fatima Zahra El Ansari; Farah Jouali; Nabila Marchoudi; Mohcine Mechita Bennani; Naima Nourouti Ghailani; Amina Barakat; Jamal Fekkak
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  7 in total

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