Population-based study of the risk of second primary contralateral breast cancer associated with carrying a mutation in BRCA1 or BRCA2

Kathleen E Malone; Colin B Begg; Robert W Haile; Ake Borg; Patrick Concannon; Lina Tellhed; Shanyan Xue; Sharon Teraoka; Leslie Bernstein; Marinela Capanu; Anne S Reiner; Elyn R Riedel; Duncan C Thomas; Lene Mellemkjaer; Charles F Lynch; John D Boice Jr; Hoda Anton-Culver; Jonine L Bernstein

doi:10.1200/JCO.2009.24.2495

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Population-based study of the risk of second primary contralateral breast cancer associated with carrying a mutation in BRCA1 or BRCA2

Journal article

Open access

Peer reviewed

Population-based study of the risk of second primary contralateral breast cancer associated with carrying a mutation in BRCA1 or BRCA2

Kathleen E Malone, Colin B Begg, Robert W Haile, Ake Borg, Patrick Concannon, Lina Tellhed, Shanyan Xue, Sharon Teraoka, Leslie Bernstein, Marinela Capanu, …

Journal of clinical oncology, Vol.28(14), pp.2404-2410

05/10/2010

DOI: 10.1200/JCO.2009.24.2495

PMCID: PMC2881721

PMID: 20368571

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Abstract

Women with breast cancer diagnosed early in life comprise a substantial portion of those tested for BRCA1/BRCA2 mutations; however, little information is available on the subsequent risks of contralateral breast cancer in mutation carriers. This study assessed the risk of subsequent contralateral breast cancer associated with carrying a BRCA1 or BRCA2 mutation. In this nested case-control study, patients with contralateral breast cancer diagnosed 1 year or more after a first primary breast cancer (n = 705) and controls with unilateral breast cancer (n = 1,398) were ascertained from an underlying population-based cohort of 52,536 women diagnosed with a first invasive breast cancer before age 55 years. Interviews and medical record reviews were used to collect risk factor and treatment histories. All women were tested for BRCA1/BRCA2 mutations. Relative (rate ratios) and absolute (5- and 10-year cumulative) risks of developing contralateral breast cancer following a first invasive breast cancer were computed. Compared with noncarriers, BRCA1 and BRCA2 mutation carriers had 4.5-fold (95% CI, 2.8- to 7.1-fold) and 3.4-fold (95% CI, 2.0- to 5.8-fold) increased risks of contralateral breast cancer, respectively. The relative risk of contralateral breast cancer for BRCA1 mutation carriers increased as age of first diagnosis decreased. Age-specific cumulative risks are provided for clinical guidance. The risks of subsequent contralateral breast cancer are substantial for women who carry a BRCA1/BRCA2 mutation. These findings have important clinical relevance regarding the assessment of BRCA1/BRCA2 status in patients with breast cancer and the counseling and clinical management of patients found to carry a mutation.

Mutation

United States - epidemiology

Age Factors

Humans

Middle Aged

Case-Control Studies

Breast Neoplasms - therapy

Time Factors

DNA Mutational Analysis

Adult

Female

Genetic Predisposition to Disease

SEER Program

Risk Assessment

Risk Factors

Neoplasm Recurrence, Local

Logistic Models

Treatment Outcome

BRCA1 Protein - genetics

Apoptosis Regulatory Proteins

Breast Neoplasms - genetics

Breast Neoplasms - pathology

Denmark - epidemiology

Breast Neoplasms - mortality

Population Surveillance

BRCA2 Protein - genetics

Details

Title: Subtitle: Population-based study of the risk of second primary contralateral breast cancer associated with carrying a mutation in BRCA1 or BRCA2
Creators: Kathleen E Malone - Division of Public Health Sciences, Fred Hutchinson Cancer Research Center, Seattle, WA 98006, USA. kmalone@fhcrc.org
Colin B Begg
Robert W Haile
Ake Borg
Patrick Concannon
Lina Tellhed
Shanyan Xue - University of Southern California
Sharon Teraoka
Leslie Bernstein
Marinela Capanu
Anne S Reiner
Elyn R Riedel
Duncan C Thomas
Lene Mellemkjaer
Charles F Lynch
John D Boice Jr
Hoda Anton-Culver
Jonine L Bernstein
Resource Type: Journal article
Publication Details: Journal of clinical oncology, Vol.28(14), pp.2404-2410
Publisher: United States
DOI: 10.1200/JCO.2009.24.2495
PMID: 20368571
PMCID: PMC2881721
ISSN: 0732-183X
eISSN: 1527-7755
Grant note: R01 CA129639 / NCI NIH HHS U01 CA083178 / NCI NIH HHS R01 AG014358 / NIA NIH HHS R01CA097397 / NCI NIH HHS R01 CA097397 / NCI NIH HHS U01CA083178 / NCI NIH HHS R01 CA131010 / NCI NIH HHS
Language: English
Date published: 05/10/2010
Academic Unit: Epidemiology
Record Identifier: 9983995038602771

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