Contralateral recurrence and prognostic factors in familial non-<i>BRCA1/2</i>-associated breast cancer

Tilanus-Linthorst, Madeleine M.A.; Alves, Celina; Seynaeve, C.; Menke-Pluymers, Marian B. E.; Eggermont, Alexander M.M.; Brekelmans, C. T. M.

doi:10.1002/bjs.5344

Cited by 16 publications

(9 citation statements)

References 27 publications

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“…Our results are concordant with a previous retrospective study on a cohort of 327 familial non- BRCA1/2 breast cancer cases [12,13]. These authors found incidences of metachronous contralateral breast cancers after 10 years that were similar to those in sporadic breast cancer patients (that is, 6.4% versus 5.4%, respectively).…”

Section: Discussionsupporting

confidence: 92%

“…While the risk for second primaries has been studied in BRCA1 or BRCA2 mutation carriers, preliminary data indicate that the risk of contralateral breast cancer is not significantly elevated in patients with familial breast cancer, who tested negative for BRCA1/2 mutations [12,13]. Despite these data and although the latter group accounts for the majority of women with familial breast cancer, there is a rising demand for prophylactic bilateral or prophylactic contralateral mastectomy in these women [14,15].…”

Section: Introductionmentioning

confidence: 99%

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The risk of contralateral breast cancer in patients from BRCA1/2 negative high risk families as compared to patients from BRCA1 or BRCA2 positive families: a retrospective cohort study

et al. 2012

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IntroductionWhile it has been reported that the risk of contralateral breast cancer in patients from BRCA1 or BRCA2 positive families is elevated, little is known about contralateral breast cancer risk in patients from high risk families that tested negative for BRCA1/2 mutations.MethodsA retrospective, multicenter cohort study was performed from 1996 to 2011 and comprised 6,235 women with unilateral breast cancer from 6,230 high risk families that had tested positive for BRCA1 (n = 1,154) or BRCA2 (n = 575) mutations or tested negative (n = 4,501). Cumulative contralateral breast cancer risks were calculated using the Kaplan-Meier product-limit method and were compared between groups using the log-rank test. Cox regression analysis was applied to assess the impact of the age at first breast cancer and the familial history stratified by mutation status.ResultsThe cumulative risk of contralateral breast cancer 25 years after first breast cancer was 44.1% (95%CI, 37.6% to 50.6%) for patients from BRCA1 positive families, 33.5% (95%CI, 22.4% to 44.7%) for patients from BRCA2 positive families and 17.2% (95%CI, 14.5% to 19.9%) for patients from families that tested negative for BRCA1/2 mutations. Younger age at first breast cancer was associated with a higher risk of contralateral breast cancer. For women who had their first breast cancer before the age of 40 years, the cumulative risk of contralateral breast cancer after 25 years was 55.1% for BRCA1, 38.4% for BRCA2, and 28.4% for patients from BRCA1/2 negative families. If the first breast cancer was diagnosed at the age of 50 or later, 25-year cumulative risks were 21.6% for BRCA1, 15.5% for BRCA2, and 12.9% for BRCA1/2 negative families.ConclusionsContralateral breast cancer risk in patients from high risk families that tested negative for BRCA1/2 mutations is similar to the risk in patients with sporadic breast cancer. Thus, the mutation status should guide decision making for contralateral mastectomy.

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Section: Discussionsupporting

confidence: 92%

Section: Introductionmentioning

confidence: 99%

The risk of contralateral breast cancer in patients from BRCA1/2 negative high risk families as compared to patients from BRCA1 or BRCA2 positive families: a retrospective cohort study

et al. 2012

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“…When a tumor doubles its volume four times, tumor size at imaging will increase from 2 to 5 mm or from 4 to 10 mm. This is a detectable change, and although in studies the rate of distant metastases increased much faster with increasing tumor size in high-grade cancers (as often seen in BRCA1/2-related tumors) than in low grade cancers, as long as the tumor was detected in the 2-to 10-mm size range the prognosis was excellent (8)(9)(10)18). In our BRCA1 group under age 40, however, mean tumor pathology size was 18 mm, a size at which the risk of metastases is relatively high for these usually high-grade cancers (29,30).…”

Section: Discussionmentioning

confidence: 99%

“…The survival of women diagnosed with breast cancers <1 cm and with negative lymph nodes is excellent. In BRCA mutation carriers and in familial high-risk patients, tumor size at detection is a key predictor of survival (8,9) and mortality risk may be reduced by early tumor detection (10).…”

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confidence: 99%

BRCA1 Mutation and Young Age Predict Fast Breast Cancer Growth in the Dutch, United Kingdom, and Canadian Magnetic Resonance Imaging Screening Trials

Tilanus-Linthorst¹,

Obdeijn

Hop

et al. 2007

Clinical Cancer Research

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Purpose: Magnetic resonance imaging (MRI) screening enables early detection of breast cancers in women with an inherited predisposition. Interval cancers occurred in women with a BRCA1 mutation, possibly due to fast tumor growth. We investigated the effect of a BRCA1 or BRCA2 mutation and age on the growth rate of breast cancers, as this may influence the optimal screening frequency. Experimental Design: We reviewed the invasive cancers from the United Kingdom, Dutch, and Canadian MRI screening trials for women at hereditary risk, measuring tumor size at diagnosis and on preceding MRI and/or mammography. We could assess tumor volume doubling time (DT) in 100 cancers. Results: Tumor DT was estimated for 43 women with a BRCA1 mutation, 16 women with a BRCA2 mutation, and 41women at high risk without an identified mutation. Growth rate slowed continuously with increasing age (P = 0.004). Growth was twice as fast in BRCA1 (P = 0.003) or BRCA2 (P = 0.03) patients as in high-risk patients of the same age.The mean DT for women with BRCA1/2 mutations diagnosed at ages V40, 41 to 50, and >50 years was 28, 68, and 81 days, respectively, and 83, 121, and 173 days, respectively, in the high-risk group. Pathologic tumor size decreased with increasing age (P = 0.001). Median size was 15 mm for patients ages V40 years compared with 9 mm in older patients (P = 0.003); tumors were largest in young women with BRCA1mutations. Conclusion: Tumors grow quickly in women with BRCA1 mutations and in young women. Age and risk group should be taken into account in screening protocols.Women with a family history of breast cancer or with a mutation in BRCA1 or BRCA2 are at elevated risk of developing breast cancer. Cancers often occur at a very young age in women with mutations. By age 50 years, the estimated cumulative breast cancer risk is 40% for women with BRCA1 mutations and 16% for BRCA2 (1). In women without a BRCA1 or BRCA2 mutation with increased risk based on family history, the estimated cumulative breast cancer risk by age 50 is 5% to 10%, which is two to four times the population risk (2). Several studies have reported that breast cancers in premenopausal high-risk women can often be detected at a favorable stage by annual screening with magnetic resonance imaging (MRI) and mammography (3 -7). The purpose of a screening program is to identify breast cancer at an early stage before metastatic spread. The survival of women diagnosed with breast cancers <1 cm and with negative lymph nodes is excellent. In BRCA mutation carriers and in familial high-risk patients, tumor size at detection is a key predictor of survival (8, 9) and mortality risk may be reduced by early tumor detection (10).Cancers that are missed by screening may present as interval cancers. All other things being equal, the faster the rate of tumor growth, the greater the likelihood that a cancer will present as an interval versus a screen-detected cancer. In three cohorts of women undergoing annual screening with MRI and mammography, seven of the eight rep...

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“…Of the approximately 300,000 U.S. citizens, about 5 million (<2%) are Jewish, and the proportion is lower in the South (Berkowitz et al 2003). Also, contralateral breast cancer may not be a specific marker for positive genetic testing (Keim and Ferguson 2007; Tilanus-Linthorst et al 2006). Since none of the participants reported having genetic testing themselves, it seems unlikely that their relatives had genetic testing, but that is still a possibility.…”

Section: Discussionmentioning

confidence: 99%

Genetic Risk, Perceived Risk, and Cancer Worry in Daughters of Breast Cancer Patients

Quillin

Bodurtha

McClish

et al. 2010

Journal of Genetic Counseling

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This study explored relationships between worry, perceived risk for breast cancer, consulting a genetic counselor, having genetic testing, and genetic risk for women whose mothers had breast cancer. Analyses involved data from a community-based phone survey of women whose mothers had breast cancer. Participants were categorized as having low, intermediate, or high genetic risk based on their reported family history, in accordance with an accepted classification scheme. The Lerman Breast Cancer Worry Scale measured worry, and participants reported their perceived lifetime likelihood of breast cancer, risk compared to others, and chance from 1 to 100. ANOVA, chi-square, and multiple regression analyses were conducted as appropriate. One hundred-fifty women participated. Mean age was 38 years, and 81% were Caucasian. Fifty-two women had low, 74 had intermediate, and 24 had high genetic risk for breast cancer. There were no significant differences in worry or perceived risk by hereditary risk category. Most high-risk women (91%) had not spoken with a genetic counselor, and no one had previous genetic testing. These findings suggest perceived risk, worry about breast cancer, and use of expert consultation do not match the genetic contribution to risk. There is a need for effectively stratifying and communicating risk in the community and providing tailored reassurance or referral for high-risk assessment.

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Contralateral recurrence and prognostic factors in familial non-BRCA1/2-associated breast cancer

Cited by 16 publications

References 27 publications

The risk of contralateral breast cancer in patients from BRCA1/2 negative high risk families as compared to patients from BRCA1 or BRCA2 positive families: a retrospective cohort study

The risk of contralateral breast cancer in patients from BRCA1/2 negative high risk families as compared to patients from BRCA1 or BRCA2 positive families: a retrospective cohort study

BRCA1 Mutation and Young Age Predict Fast Breast Cancer Growth in the Dutch, United Kingdom, and Canadian Magnetic Resonance Imaging Screening Trials

Genetic Risk, Perceived Risk, and Cancer Worry in Daughters of Breast Cancer Patients

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