<i>BRCA1</i>-Associated Breast Cancers Present Differently From <i>BRCA2</i>-Associated and Familial Cases: Long-Term Follow-Up of the Dutch MRISC Screening Study

Rijnsburger, Adriana J.; Obdeijn, Inge-Marie; Kaas, R.; Tilanus-Linthorst, Madeleine A; Boetes, C.; Loo, Claudette E.; Wasser, Martin; Bergers, Elisabeth; Kok, Theo M. de; Müller, Sara; Peterse, Hans; Tollenaar, Rob A.E.M.; Hoogerbrugge, Nicoline; Meijer, Sybren; Bartels, C.C.M.; Seynaeve, Caroline; Hooning, Maartje J.; Kriege, Mieke; Schmitz, Paul; Oosterwijk, Jan C.; Koning, Harry J. de; Rutgers, Emiel J. T.; Klijn, Jan G.M.

doi:10.1200/jco.2009.27.2294

Cited by 170 publications

(120 citation statements)

References 45 publications

(10 reference statements)

Supporting

Mentioning

106

Contrasting

Unclassified

Order By: Relevance

“…17 Women were included if aged between 25 and 70 years. Further inclusion and exclusion criteria, methodology and results of the MRISC-study have been reported previously.…”

Section: Datamentioning

confidence: 99%

“…Further inclusion and exclusion criteria, methodology and results of the MRISC-study have been reported previously. 17 Of 722 participating women who were DNA tested for BRCA1 and BRCA2 mutations, pedigree information was obtained from the clinical genetic departments. Apart from the mutation status, genetic family identification number and age at onset of breast cancer in firstand second-degree relatives of the index woman were extracted.…”

Section: Datamentioning

confidence: 99%

“…17,26,27 We do not know whether any of the relative's cancers were detected by screening. If high-risk women are screened with mammography instead of MRI, then the number of years to subtract in the model may have to be modified.…”

Section: Early Detection and Diagnosismentioning

confidence: 99%

See 2 more Smart Citations

Optimal age to start preventive measures in women with BRCA1/2 mutations or high familial breast cancer risk

Tilanus-Linthorst

Lingsma

Evans

et al. 2013

Intl Journal of Cancer

Self Cite

View full text Add to dashboard Cite

Women from high-risk families consider preventive measures for breast cancer including screening. Guidelines on screening differ considerably regarding starting age. We investigated whether age at diagnosis in affected relatives is predictive for age at diagnosis. We analyzed the age of breast cancer detection of 1,304 first-and second-degree relatives of 314 BRCA1, 164 BRCA2 and 244 highrisk participants of the Dutch MRI-SCreening study. The within-and between-family variance in the relative's age at diagnosis was analyzed with a random effect linear regression model. We compared the starting age of screening based on risk-group (25 years for BRCA1, 30 years for BRCA2 and 35 years for familial risk), on family history, and on the model, which combines both. The findings were validated in 63 families from the UK-MARIBS study. Mean age at diagnosis in the relatives varied between families; 95% range of mean family ages was 35-55 in BRCA1-, 41-57 in BRCA2-and 44-60 in high-risk families. In all, 14% of the variance in age at diagnosis, in BRCA1 even 23%, was explained by family history, 7% by risk group. Determining start of screening based on the model and on risk-group gave similar results in terms of cancers missed and years of screening. The approach based on familial history only, missed more cancers and required more screening years in both the Dutch and the United Kingdom data sets. Age at breast cancer diagnosis is partly dependent on family history which may assist planning starting age for preventive measures.The average risk of detecting breast cancer between 50 and 70 years of age is 5-6% for women in the United States and Europe. A woman's risk of developing breast cancer increases when a first-degree relative has had breast cancer progressively with decreasing age at onset in the relative 1 and with an increasing number of family members with breast and/or ovarian cancer. 1-3 Very high risk and young age at onset are seen in women with a BRCA1 or BRCA2 mutation, who have a cumulative lifetime risk of 45-80%. [2][3][4][5] Screening with MRI or other preventive measures such as preventive mastectomy are considered appropriate in these groups from 25 to 30 years onward. However, in about 80% of families that meet the criteria for BRCA testing no causative gene mutation can be detected currently. 6 These women are considered as having an increased familial risk.Screening and preventive surgery should ideally be tailored to the expected age of breast cancer onset. The estimated risk at a given age differs considerably between studies, both for BRCA1/2 mutation carriers and for women

show abstract

“…17 Women were included if aged between 25 and 70 years. Further inclusion and exclusion criteria, methodology and results of the MRISC-study have been reported previously.…”

Section: Datamentioning

confidence: 99%

Section: Datamentioning

confidence: 99%

See 1 more Smart Citation

Optimal age to start preventive measures in women with BRCA1/2 mutations or high familial breast cancer risk

Tilanus-Linthorst

Lingsma

Evans

et al. 2013

Intl Journal of Cancer

Self Cite

View full text Add to dashboard Cite

show abstract

“…BRCA1-associated tumors are characterized by a higher proportion of interval tumors and a younger age and more often an unfavourable size at diagnosis, when compared with BRCA2-associated tumors. Besides, invasive BRCA1 breast tumors are often high grade and rapidly growing [33,34]. While a possible linkage between IVF treatment and breast cancer risk has extensively been studied in the general population [35], safety of IVF with regards to the risk for breast cancer has not been systematically studied in female BRCA1/2 carriers.…”

mentioning

confidence: 99%

Hereditary breast and ovarian cancer and reproduction: an observational study on the suitability of preimplantation genetic diagnosis for both asymptomatic carriers and breast cancer survivors

Derks-Smeets

Die-Smulders

Mackens

et al. 2014

Breast Cancer Res Treat

View full text Add to dashboard Cite

PurposePreimplantation genetic diagnosis (PGD) is a reproductive option for BRCA1/2 mutation carriers wishing to avoid transmission of the predisposition for hereditary breast and ovarian cancer (HBOC) to their offspring. Embryos obtained by in vitro fertilisation (IVF/ICSI) are tested for the presence of the mutation, only BRCA-negative embryos are transferred into the uterus. The suitability and outcome of PGD for HBOC is evaluated. MethodsObservational cohort study on PGD treatments for HBOC carried out in two of WesternEurope's largest PGD centres from 2006 until 2012. Male carriers, asymptomatic female carriers, and breast cancer survivors were eligible. If available, PGD on embryos cryopreserved before chemotherapy was possible. Generic PGD-PCR tests were developed based on haplotyping, if necessary combined with mutation detection. Results 70couples underwent PGD for BRCA1/2. 42/71 carriers (59.2%) were female, six (14.3%) of whom have had breast cancer prior to PGD. In total, 145 PGD cycles were performed. 720 embryos were tested, identifying 294 (40.8%) as BRCA-negative. Of fresh IVF/PGD cycles, 23.9% resulted in a clinical pregnancy. Three cycles involved PGD on embryos cryopreserved before chemotherapy; two of these women delivered a healthy child. Overall, 38 children were liveborn. Two BRCA1 carriers were diagnosed with breast cancer shortly after PGD treatment, despite negative screening prior to PGD. ConclusionsPGD for HBOC proved to be suitable, yielding good pregnancy rates for asymptomatic carriers as well as breast cancer survivors. Because of two cases of breast cancer shortly after treatment, maternal safety of IVF(/PGD) in female carriers needs further evaluation. [2,3]. The prevalence of germline BRCA1/2 mutations is estimated at 0.1-1.0% in the general population, making HBOC one of the more prevalent autosomal dominant genetic disorders [4,5].Carriers of a BRCA1/2 mutation have a 50% risk of passing this predisposition to their offspring. There are several reproductive options to circumvent this, but only two lead to a child genetically related to both partners: prenatal diagnosis and preimplantation genetic diagnosis (PGD). Prenatal diagnosis on the one hand, involves genetic testing of a fetus for the presence of a familial BRCA1/2 mutation during pregnancy, followed by pregnancy termination in case of an unfavourable result. Although applied on a small scale, reports regarding clinical experience with prenatal diagnosis for HBOC are not available in the literature to date. Preimplantation genetic diagnosis (PGD) on the other hand, involves in vitro fertilisation (IVF) with intracytoplasmic sperm injection (ICSI), followed by genetic testing of the embryos for the presence of a familial BRCA1/2 mutation before intrauterine transfer.PGD has been successfully applied since 1990 for an expanding list of monogenic disorders and chromosomal abnormalities [6]. In 2003, the Ethics Taskforce of the European Society of Human Reproduction and Embryology stated that it is acceptable to ...

show abstract

“…Sensitivity of mammography was just 25% for BRCA1 mutation carriers and 62% for BRCA2 mutation carriers, whilst MRI sensitivity was approximately 68%. 17 Since only few BRCA1/2 mutation carriers !60 have participated in the large prospective screening trials [17][18][19] no sensitivity analyses have been performed for this subgroup specifically. Finally, it is questionable if reducing screening frequency is optimal for BRCA1/2 mutation carriers !60 as their tumours grow twice as fast as tumours of age-matched non-carriers.…”

mentioning

confidence: 99%

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

et al. 2014

Self Cite

View full text Add to dashboard Cite

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

show abstract

BRCA1-Associated Breast Cancers Present Differently From BRCA2-Associated and Familial Cases: Long-Term Follow-Up of the Dutch MRISC Screening Study

Abstract: Screening results were somewhat worse in BRCA1 mutation carriers, but 6-year survival was high in all risk groups.

Cited by 170 publications

References 45 publications

Optimal age to start preventive measures in women with BRCA1/2 mutations or high familial breast cancer risk

Optimal age to start preventive measures in women with BRCA1/2 mutations or high familial breast cancer risk

Hereditary breast and ovarian cancer and reproduction: an observational study on the suitability of preimplantation genetic diagnosis for both asymptomatic carriers and breast cancer survivors

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

Contact Info

Product

Resources

About