Familial breast cancer: an investigation into the outcome of treatment for early stage disease

Eccles, Diana; Simmonds, Peter; Goddard, Jonathan; Coultas, Marie; Hodgson, Shirley; Lalloo, Fiona; Evans, Gareth; Haites, Neva

doi:10.1023/a:1013867917101

Cited by 53BRCA gene mutations in cancerBreast Cancer Treatment StudiesBreast Lesions and Carcinomas

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Familial breast cancer: an investigation into the outcome of treatment for early stage disease

Eccles, Diana, Simmonds, Peter, Goddard, Jonathan, Coultas, Marie, Hodgson, Shirley, Lalloo, Fiona, Evans, Gareth, Haites, Neva·2001·Familial Cancer

DOI 10.1023/a:1013867917101

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Abstract

The purpose of this study was to retrospectively compare the outcomes of treatment in 304 women with familial and sporadic breast cancer to clarify the options for the primary management of familial breast cancer. The majority of women were consecutively ascertained on the basis of either breast cancer diagnosed at age < 40 years or bilateral breast cancer. In addition, known BRCA1 mutation carriers were identified through the genetics services in participating centres. These patients were subdivided into those with a significant family history of breast cancer or known BRCA1 mutation (FH+) and those with no significant family history (FH-). There were no significant differences in age, surgical treatment or adjuvant treatment between the two groups, but there were significantly more women whose nodal status was unknown in the FH+ group. Ipsilateral recurrence occurred in 22.2% of FH+ patients compared with 24.1% of FH- patients (p = 0.774) who underwent breast conserving surgery. There was a striking excess of contralateral breast cancers in the FH+ group (35.9% v 16%, p = 0.0007), with a cumulative risk of contralateral cancer of 36% at 10 years. This was reflected in a non-significant trend toward worse relapse free survival in the FH+ group (p = 0.0563), but no difference was observed in overall survival between the two patient groups (p = 0.142). Similarly, for patients with known BRCA1 mutations, contralateral recurrence occurred more frequently, but other outcomes were…

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Authors: Eccles, D., Simmonds, P., Goddard, J., Coultas, M., Hodgson, S., Lalloo, F., Evans, G., & Haites, N.
Affiliations: University Hospital Southampton NHS Foundation Trust (GB)
University of Southampton (GB)
Guy's Hospital (GB)
St Mary's Hospital (GB)
ORCID: Eccles, Diana
Hodgson, Shirley
Lalloo, Fiona
Venue: Familial Cancer
Publisher: Springer Science and Business Media LLC
Published: 2001-04
Volume: 1
Issue: 2
Pages: 65-72
ISSN: 1389-9600 (ISSN-L)
1573-7292
DOI: 10.1023/a:1013867917101
OpenAlex: W1574522694
Cited by: 53
References: 42
Citations by year: 2026: 1 · 2025: 1 · 2024: 1 · 2022: 2 · 2021: 2 · 2020: 1 · 2019: 1 · 2018: 1 · 2017: 1 · 2016: 1 · 2015: 5 · 2014: 3
FWCI: 0.36
Type: journal article
Language: en
Open access: closed
Licence: www.springernature.com/gp/researchers/text-and-data-mining (tdm)
www.springernature.com/gp/researchers/text-and-data-mining (vor)
Locations: Familial Cancer (publishedVersion)
PubMed (publishedVersion)
ePrints Soton (University of Southampton) (submittedVersion)
Topics: Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › BRCA gene mutations in cancer
Life Sciences › Biochemistry, Genetics and Molecular Biology › Cancer Research › Breast Cancer Treatment Studies
Health Sciences › Medicine › Pathology and Forensic Medicine › Breast Lesions and Carcinomas
Keywords: hereditary breast cancer, BRCA1 mutation carriers, early breast cancer, contralateral breast cancer, breast-conserving surgery, adjuvant therapy, relapse-free survival, overall survival, bilateral breast cancer, young women with breast cancer, family history of breast cancer
MeSH terms: Adult, Aged, Breast Neoplasms, DNA Mutational Analysis, Female, Genetic Testing, Humans, Middle Aged, Neoplasm Recurrence, Local, Neoplasm Staging, Pedigree, Prognosis, Retrospective Studies, Mastectomy, Segmental, Survival Analysis, Risk Assessment, Genes, BRCA1, Genetic Predisposition to Disease

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Familial breast cancer: an investigation into the outcome of treatment for early stage disease

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