Tumour characteristics, survival and prognostic factors of hereditary breast cancer from BRCA2-, BRCA1- and non-BRCA1/2 families as compared to sporadic breast cancer cases

Brekelmans, C. T. M.; Tilanus-Linthorst, Madeleine M.A.; Seynaeve, Caroline; Ouweland, A. vd; Menke-Pluymers, Marian B. E.; Bartels, C.C.M.; Kriege, Mieke; Geel, Albertus N. van; Burger, Curt W.; Eggermont, Alexander M.M.; Meijers-Heijboer, Hanne; Klijn, Jan G.M.

doi:10.1016/j.ejca.2006.12.009

Cited by 206 publications

(168 citation statements)

References 26 publications

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“…However, the risk seems lower than that reported in previous foreign studies. Brekelmans et al [20] reported that the risk of metachronous contralateral breast cancer was 3.1%/year in both BRCA1 and BRCA2 mutation carriers. A meta-analysis of cumulative risks for contralateral breast cancer in BRCA1/2 mutation carriers with a first breast cancer showed a cumulative 10-year incidence rate of 27% and 19% for contralateral breast cancer in BRCA1 and BRCA2 mutation carriers, respectively [21].…”

Section: Discussionmentioning

confidence: 99%

Genetic and clinical characteristics in Japanese hereditary breast and ovarian cancer: first report after establishment of HBOC registration system in Japan

et al. 2017

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The hereditary breast and ovarian cancer (HBOC) registration system of Japan was established by the Japanese HBOC Consortium. The first trial was registered in 2015 in four institutions to which some registration committee members belonged. We analyzed the information of 830 Japanese pedigrees, who underwent BRCA1/2 genetic testing, including mutation carriers with BRCA1 (N = 127) and BRCA2 (N = 115), and their families. The mutation-positive rate was 19.7%. Variants of uncertain significance were found in 6.5% of all individuals subjected to genetic testing for BRCA1/2. Compared to the United States, Japan had a higher mutation-positive rate in most categories, except for the groups with male breast cancer. Among the intrinsic subtypes of BRCA1-associated breast cancers, 75.8% were triple-negative. The incidence rate of contralateral breast cancer in BRCA1/2 mutation carriers was 0.99%/year. Among 240 mutation carriers, 26 and 62 patients underwent risk-reducing mastectomy (RRM) and risk-reducing salpingo-oophorectomy (RRSO), respectively; the respective frequencies of occult cancer were 7.1 and 3.2%. Metachronous breast cancer after RRM or peritoneal cancer after RRSO was not observed during the follow-up period. The nationwide registration system began last year and the system enables followup analysis in Japan.

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Section: Discussionmentioning

confidence: 99%

Genetic and clinical characteristics in Japanese hereditary breast and ovarian cancer: first report after establishment of HBOC registration system in Japan

et al. 2017

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“…DNA testing was performed, as previously described. 32 We excluded patients who underwent RRM before their OC diagnosis, patients who had another malignancy (other than unilateral BC) before their OC diagnosis, BC patients who had recurrent disease, and patients of whom inadequate data concerning tumor and treatment characteristics and follow-up were available. In total, 79 women who had BRCA-associated OC without a history of unilateral BC (at risk of PBC) and 37 women who had BRCA-associated OC with a previous unilateral BC (at risk of CBC) were included in the current analyses.…”

Section: Patient Selectionmentioning

confidence: 99%

The risk of primary and contralateral breast cancer after ovarian cancer in BRCA1/BRCA2 mutation carriers

Vencken¹,

Kriege²,

Hooning³

et al. 2012

Cancer

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BACKGROUND:The objective of this study was to assess the incidence of primary breast cancer (PBC) and contralateral breast cancer (CBC) in patients who had BRCA1/BRCA2-associated epithelial ovarian cancer (OC). METHODS: From the database of the Rotterdam Family Cancer Clinic, patients who had BRCA-associated OC without a history of unilateral breast cancer (BC) (at risk of PBC; n ¼ 79) or with a history of unilateral BC (at risk of CBC; n ¼ 37) were selected. The control groups consisted of unaffected BRCA mutation carriers (n ¼ 351) or mutation carriers who had a previous unilateral BC (n ¼ 294), respectively. The risks of PBC and CBC were calculated using the Kaplan-Meier survival method with death considered as a competing risk event. RESULTS: Women with BRCA-associated OC had lower 2-year, 5-year, and 10-year risks of PBC (3%, 6%, and 11%, respectively) compared with unaffected mutation carriers (6%, 16%, and 28%, respectively; P ¼ .03), although they had a considerably higher mortality rate at similar time points (13%, 33%, and 61%, respectively, vs 1%, 2%, and 2%, respectively; P < .001). In BRCA mutation carriers with a previous unilateral BC, the 2-year, 5-year, and 10-year risks of CBC were nonsignificantly lower in patients with OC than in those without OC (0%, 7%, and 7%, respectively, vs 6%, 16%, and 34%, respectively; P ¼ .06), whereas the mortality rate was higher in patients with OC (19%, 34%, and 55%, respectively, vs 4%, 11%, and 21%, respectively; P < .001). CONCLUSIONS: Patients with BRCA-associated OC had a lower risk of developing a subsequent PBC or CBC than mutation carriers without OC, whereas the risk of dying from OC was greater than the risk of developing BC. These data may facilitate more tailored counseling for this patient subgroup, although confirmative studies are warranted. Cancer 2013;119:955-62. V C 2012 American Cancer Society.KEYWORDS: BRCA, ovarian cancer, primary breast cancer, contralateral breast cancer, risk-reducing mastectomy. INTRODUCTIONWomen who have a germline mutation in the breast cancer susceptibility genes BRCA1 or BRCA2 have substantially elevated risks of developing both breast cancer (BC) and ovarian cancer (OC). It has been estimated that the cumulative 10-year risk of primary BC (PBC) ranges between 6% and 23% for BRCA1/BRCA2 mutation carriers, and the highest risk is observed between ages 40 and 50 years.1-6 After unilateral BC, the estimated 10-year risk of contralateral BC (CBC) is 29% to 39% for patients with BRCA1-associated BC and 23% to 35% for patients with BRCA2-associated BC. 1,[7][8][9][10] Factors that potentially affect the latter include age at first BC diagnosis (especially when diagnosed at ages <50 years),

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“…Also for BRCA1/2 mutation carriers !60 with a history of breast cancer, screening is important, since contralateral breast cancer risk is high; up to 56% after 25 years, 26 and survival with timely diagnosis is good. 27 While screening biennially is beneficial in the general population, 28,29 our results suggest that continuation of annual screening is the advisable strategy for BRCA1/2 mutation carriers !60. Biennial screening compared to annual screening resulted in twice as many BRCA1/2-associated cancers detected as interval cancers (40%) and twice as many breast cancers detected in an unfavourable stage (53%).…”

Section: Discussionmentioning

confidence: 99%

“…In general, and also in BRCA1/2-associated breast cancers, the risk of metastases is related to both tumour size and the number of axillary lymph nodes involved. 27,33 Consequently, "unfavourable tumour stage," provides a good alternative outcome for prognosis. Also, our study does not report on the number of falsepositives, the number of additional examinations, or the extra costs of a more frequent screening scheme with mammography.…”

Section: 31mentioning

confidence: 99%

Relevance and efficacy of breast cancer screening inBRCA1andBRCA2mutation carriers above 60 years: A national cohort study

et al. 2014

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Annual MRI and mammography is recommended for BRCA1/2 mutation carriers to reduce breast cancer mortality. Less intensive screening is advised !60 years, although effectiveness is unknown. We identified BRCA1/2 mutation carriers without bilateral mastectomy before age 60 to determine for whom screening !60 is relevant, in the Rotterdam Family Cancer Clinic and HEBON: a nationwide prospective cohort study. Furthermore, we compared tumour stage at breast cancer diagnosis between different screening strategies in BRCA1/2 mutation carriers !60. Tumours >2 cm, positive lymph nodes, or distant metastases at detection were defined as "unfavourable." Of 548 BRCA1/2 mutation carriers !60 years in 2012, 395 (72%) did not have bilateral mastectomy before the age of 60. Of these 395, 224 (57%) had a history of breast or other invasive carcinoma. In 136 BRCA1/2 mutation carriers, we compared 148 breast cancers (including interval cancers) detected !60, of which 84 (57%) were first breast cancers. With biennial mammography 53% (30/57) of carcinomas were detected in unfavourable stage, compared to 21% (12/56) with annual mammography (adjusted odds ratio: 4Á07, 95% confidence interval [1.79-9.28], p 5 0.001). With biennial screening 40% of breast cancers were interval cancers, compared to 20% with annual screening (p 5 0.016). Results remained significant for BRCA1 and BRCA2 mutation carriers, and first breast cancers separately. Over 70% of 60-year old BRCA1/2 mutation carriers remain at risk for breast cancer, of which half has prior cancers. When life expectancy is good, continuation of annual breast cancer screening of BRCA1/2 mutation carriers !60 is worthwhile. Epidemiology

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Tumour characteristics, survival and prognostic factors of hereditary breast cancer from BRCA2-, BRCA1- and non-BRCA1/2 families as compared to sporadic breast cancer cases

Cited by 206 publications

References 26 publications

Genetic and clinical characteristics in Japanese hereditary breast and ovarian cancer: first report after establishment of HBOC registration system in Japan

Genetic and clinical characteristics in Japanese hereditary breast and ovarian cancer: first report after establishment of HBOC registration system in Japan

The risk of primary and contralateral breast cancer after ovarian cancer in BRCA1/BRCA2 mutation carriers

Relevance and efficacy of breast cancer screening inBRCA1andBRCA2mutation carriers above 60 years: A national cohort study

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