Survival and tumour characteristics of breast-cancer patients with germline mutations of BRCA1

Verhoog, L.C.; Brekelmans, C. T. M.; Seynaeve, Caroline; Bosch, Lmc van den; G, Dahmen; Geel, AN van; Tilanus-Linthorst, Mma; Bartels, C.C.M.; Wagner, Anja; Ouweland, Ans van den; Devilee, Peter; Meijers-Heijboer, E.J.; Klijn, J.G.M.

doi:10.1016/s0140-6736(97)07065-7

Cited by 403 publications

(122 citation statements)

References 18 publications

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“…Verhoog et al (1999) gave an overview of such studies and noted that there are essential dierences in the methods used. The authors showed that the prognosis for breast cancer patients carrying BRCA1 or BRCA2 mutations is not signi®cantly dierent from that of sporadic breast cancer patients with the exception that BRCA2 tumors tend to be estrogen-and progesterone-receptor-positive in contrast to the steroidreceptor-negative BRCA1-associated breast cancer (Verhoog et al 1998).…”

Section: Brca1 and Brca2 ± Clinical Implicationmentioning

confidence: 99%

BRCA1 and BRCA2 - breast cancer susceptibility genes

Hofmann

Schlag

2000

Journal of Cancer Research and Clinical Oncology

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Genetic predisposition is responsible for 5% 10% of all breast cancer cases. Therefore, the inherited susceptibility to breast cancer has been intensively investigated during the last 10 years. In particular, the identification of the breast cancer susceptibility genes BRCA1 (breast cancer gene 1) and BRCA2 and the current genetic testing for mutations in both genes are the basis for estimating disease risks for women with a strong family history of breast cancer and will provide important information on the prevention and treatment of familial breast cancer.

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Section: Brca1 and Brca2 ± Clinical Implicationmentioning

confidence: 99%

BRCA1 and BRCA2 - breast cancer susceptibility genes

Hofmann

Schlag

2000

Journal of Cancer Research and Clinical Oncology

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“…13,20 Studies done outside Japan have yielded inconsistent findings. Some have reported no pathological difference between sporadic cancer and BRCA1/2-related breast cancer, 21 whereas others have found a relatively higher frequency of medullary carcinoma in BRCA1/2-related breast cancer. 22,23 Armes and Venter 22 reported that the absence of tubule formation and the presence of moderate or marked lymphocytic infiltration were pathological features of BRCA1-related breast cancer.…”

Section: Introductionmentioning

confidence: 99%

“…26 As for outcome, some studies have reported no difference between BRCA1-related breast cancer and sporadic breast cancer. 21,27 In Japan, the outcome of BRCA1-related breast cancer is significantly poorer than that of general breast cancers. 13 The 5-year survival rate of patients with BRCA1-related breast cancer is about 60% (control group, more than 80%).…”

Section: Introductionmentioning

confidence: 99%

Familial breast and ovarian cancers

2004

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About 60% of familial breast and ovarian cancers in Japan involve germline mutations of the BRCA1 or BRCA2 ( BRCA1/2) genes. These genes contribute to genetic stability and DNA repair and act as tumor suppressor genes. Mutation analysis of the BRCA1/2 genes has improved our understanding of both common mutation patterns in Japanese patients and the clinicopathological features of BRCA1/2-related cancers. BRCA1-related breast cancers are characterized by poor prognosis, a low rate of estrogen receptor positivity, and histological predominance of solid-tubular carcinoma. BRCA1-related ovarian cancers are associated with a high frequency of serous adenocarcinoma and a good outcome. Further large-scale studies are needed to delineate genotype-phenotype relations and penetrance in BRCA1/2-related breast and ovarian cancers in Japan. The development of systems for clinical genetics in Japan, including genetic counseling, has led to the increased use of genetic testing for the clinical management of BRCA1/2-related cancers. Three options are available for carriers of BRCA1/2 mutations: intensive surveillance, chemoprevention, and prophylactic surgery. Studies done in other countries indicate that prophylactic surgery effectively prevents the development of breast and ovarian cancers in carriers of BRCA1/2 mutations. However, prophylactic mastectomy remains controversial in Japan, and now systematic intensive surveillance is generally performed for the prevention of breast cancer in women at high risk. Early detection of ovarian cancer remains challenging, resulting in increased acceptance of the need for prophylactic oophorectomy in women at risk. This review summarizes experimental and clinical findings about familial breast and ovarian cancers, including data on Japanese patients.

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“…For example, the risk of developing a subsequent ovarian cancer following hereditary breast cancer is increased tenfold to at least 16% [5, 12]. In addition, the risk of a contralateral second breast cancer is increased to 20% and 12% within 5 years of the initial diagnosis for women with mutations in BRCA1 and BRCA2, respectively [13, 14]. …”

Section: Risk Of Breast and Ovarian Cancer Associated With Mutations mentioning

confidence: 99%

Testing for Hereditary Risk of Breast and Ovarian Cancer

Frank¹

2000

Public Health Genomics

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Genetic testing provides an opportunity to characterize cancer risks in individuals that previously could only be estimated from epidemiological data. This paper reviews current data and opinions regarding identification and management of women with mutations in BRCA1 and BRCA2. In particular, its objectives are to summarize the risk of breast and ovarian cancer associated with inherited mutations in the genes BRCA1 and BRCA2, criteria to identify patients for whom genetic testing might be helpful, how such genetic tests are interpreted and management of patients with hereditary risk of breast and ovarian cancer. Conclusions indicate that there is increasing evidence that interventions to address hereditary risk of breast and ovarian cancer are effective. Hereditary risk assessment can enhance the health care of women with a personal or family history of ovarian or early-onset breast cancer.

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Survival and tumour characteristics of breast-cancer patients with germline mutations of BRCA1

Cited by 403 publications

References 18 publications

BRCA1 and BRCA2 - breast cancer susceptibility genes

BRCA1 and BRCA2 - breast cancer susceptibility genes

Familial breast and ovarian cancers

Testing for Hereditary Risk of Breast and Ovarian Cancer

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