scholarly journals Guidelines for Follow-Up of Women at High Risk for Inherited Breast Cancer: Consensus Statement from the Biomed 2 Demonstration Programme on Inherited Breast Cancer

1999 ◽  
Vol 15 (1-3) ◽  
pp. 207-211 ◽  
Author(s):  
P. Møller ◽  
G. Evans ◽  
N. Haites ◽  
H. Vasen ◽  
M. M. Reis ◽  
...  
Keyword(s):  
Breast Cancer ◽  
High Risk ◽  
Early Diagnosis ◽  
Brca1 Mutation ◽  
Breast Cancers ◽  
Management Options ◽  
Detection Rates ◽  
Inherited Breast Cancer

Protocols for activity aiming at early diagnosis and treatment of inherited breast or breast-ovarian cancer have been reported. Available reports on outcome of such programmes are considered here. It is concluded that the ongoing activities should continue with minor modifications. Direct evidence of a survival benefit from breast and ovarian screening is not yet available. On the basis of expert opinion and preliminary results from intervention programmes indicating good detection rates for early breast cancers and 5-year survival concordant with early diagnosis, we propose that women at high risk for inherited breast cancer be offered genetic counselling, education in ‘breast awareness’ and annual mammography and clinical expert examination from around 30 years of age. Mammography every second year may be sufficient from 60 years on. BRCA1 mutation carriers may benefit from more frequent examinations and cancer risk may be reduced by oophorectomy before 40–50 years of age. We strongly advocate that all activities should be organized as multicentre studies subjected to continuous evaluation to measure the effects of the interventions on long-term mortality, to match management options more precisely to individual risks and to prepare the ground for studies on chemoprevention.

Breast Cancer in Young Women after Treatment with Irradiation for Hodgkin’s Lymphoma.

Blood ◽  
2006 ◽  
Vol 108 (11) ◽  
pp. 3333-3333
Author(s):  
Linda Lee ◽  
Melania Pintilie ◽  
David Hodgson ◽  
Michael Crump
Keyword(s):  
Breast Cancer ◽  
High Risk ◽  
Breast Density ◽  
Young Women ◽  
Cumulative Incidence ◽  
Breast Mri ◽  
Increased Risk

Abstract BACKGROUND: Women who are survivors of Hodgkin’s Lymphoma (HL) are at increased risk of developing breast cancer (BCa) as a long-term complication due to the use of extended field (mantle) irradiation (RT) of disease above the diaphragm. Many young women are at significantly increased risk of BCa prior to the age at which routine screening mammography is recommended for the general population. The sensitivity of mammography is lower in these women, in part due to increased breast tissue density characteristic of young pre-menopausal women. Currently, there is a paucity of information on the optimal screening modality and surveillance frequency for these women. METHODS: We reviewed the current BCa screening strategies used for this high risk group at our centre and described the incidence, method of detection, and characteristics of secondary BCas in a cohort of 115 women who received supradiaphragmatic RT for HL before age 30 between 1965 and 2000 at Princess Margaret Hospital (PMH) and who subsequently accepted long-term follow-up in a high-risk screening clinic. RESULTS: Median age at treatment was 22 (range 9–30). Radiation fields were mantle in 106 women, modified mantle in 6, and involved field in 3 (median dose delivered: 35 Gy, range 15–60). RT alone was used for 44 patients while 71 received combined modality therapy, of which 45 (65%) received MOPP. Treatment induced amenorrhea occurred in 15 women (median age 38); hormone replacement therapy was subsequently used by 9. Of the 107 women who participated in annual radiographic BCa screening, 95 were screened with mammogram alone, 1 with breast MRI alone, 8 with mammogram and MRI, and 3 with mammogram and ultrasound. Median age at first mammogram was 36; however, median age decreased with more recent year of HL diagnosis (age 40 for women diagnosed before 1985 compared to age 33 for women diagnosed after 1985, p<0.0001). Women with high breast density received MRI screening more often (p=0.02); however, breast density was not significantly associated with previous breast radiation dose or age at last follow-up. Twelve women were diagnosed with BCa in this cohort, following active breast surveillance for a median of 5 years (representing 584 person-years). The 20-year cumulative incidence of breast cancer was 10.9% (95% CI 5.3–18.8%) in this group of women. This was comparable to the 20-year cumulative incidence of breast cancer of 12% (95% CI 8–17%) in all 448 women with HL treated with supradiaphragmatic radiation before age 30 at PMH during the same time period. BCa occurred after a median of 17 years after treatment for HL (range 13–28). Median age at BCa diagnosis was 40 (range 31–51). Seven cancers were detected by physical exam (6 node-positive invasive BCas, 1 in-situ BCa) and 5 were detected on annual mammograms (1 node-positive invasive BCa, 4 in-situ BCas). CONCLUSIONS: Although women in the more recent treatment cohort are receiving their first mammogram at a younger age, the majority of BCas were still detected clinically, and these BCas had less favorable pathological characteristics. More frequent breast imaging should be considered in women who have had supradiaphragmatic RT for HL. Prospective evaluation of breast MRI as a screening strategy for HL survivors has been initiated at PMH in an effort to detect BCa at an earlier stage.

Long-term toxicity of high-dose sequential chemotherapy with autologous hematopoietic stem cells support in very high-risk early breast cancer patients (pts)

2007 ◽  
Vol 25 (18_suppl) ◽  
pp. 11101-11101
Author(s):  
A. Bernardi ◽  
C. Zamagni ◽  
S. Quercia ◽  
F. Massari ◽  
N. Cacciari ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Stem Cells ◽  
High Risk ◽  
Early Breast Cancer ◽  
High Dose Chemotherapy ◽  
High Dose ◽  
Sequential Chemotherapy ◽  
Haematopoietic Stem Cells

11101 Background: High-dose chemotherapy with autologous haematopoietic stem cells support (HDCT) in the adjuvant treatment of breast cancer has been abandoned by many, but it remains unclear the real role of this treatment and a meta-analysis of high-dose chemotherapy adjuvant trials is ongoing. Methods: Twenty-five consecutive high risk early breast cancer pts with at least 40 months of follow-up treated at our institution with HDCT are included in the present analysis. Median age was 44 (range 24–59 years) and 15 pts were premenopausal. The median number of axillary lymph-nodes metastases was 13 (range 3–49) and the pathological stage was IIB in one pt, IIIA in 3 pts, IIIB in one pt and IIIC in 20 pts. Estrogen and/or progesterone receptors were positive in 15 pts and both negative in 10 pts. The 10- year risk of relapse of pts with disease characteristics similar to those included in our study population is 80–85%. The HDCT regimen used was cyclophosphamide 7g/m2 plus G-CSF (followed by apheresis of peripheral haematopoietic stem cells), methotrexate 8 g/m2 followed by thiotepa 600 mg/m2 and melphalan 160 mg/m2 or by mitozantrone 60 mg/m2 and melphalan 180 mg/m2 and stem cells reinfusion. Results: At a median follow-up of 7 years (range 3,5 - 8 years) 13 pts (52%) relapsed and 10 pts (40%) died. The most common sites of recurrence were lung, liver and bones; 6 pts developed brain metastases and in 2 cases a bone marrow infiltration was documented. No toxic deaths and no long term toxicities, except irreversible amenorrhoea in all the premenopausal pts, were observed. No secondary malignancies occurred.The median relapse-free survival is 65,1 months, while the median overall survival has not been reached yet. Conclusions: In our experience high-dose sequential chemotherapy with autologous stem cells support is a safe treatment with no toxic deaths and no long-term toxicities. This regimen should therefore be further investigated if translational research will be able to identify subgroups of pts with the highest probability to benefit from intensive chemotherapy. No significant financial relationships to disclose.

Pathologic Complete Response Rates in Young Women With BRCA1-Positive Breast Cancers After Neoadjuvant Chemotherapy

2010 ◽  
Vol 28 (3) ◽  
pp. 375-379 ◽  
Author(s):  
Tomasz Byrski ◽  
Jacek Gronwald ◽  
Tomasz Huzarski ◽  
Ewa Grzybowska ◽  
Magdalena Budryk ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Neoadjuvant Chemotherapy ◽  
Brca1 Mutation ◽  
Pathologic Complete Response ◽  
Complete Response ◽  
High Rate ◽  
Breast Cancers ◽  
Mutation Carriers ◽  
Intermediate Rate

Purpose To estimate the rate of pathologic complete response (pCR) to neoadjuvant chemotherapy in BRCA1 mutation carriers according to chemotherapy regimen. Patients and Methods From a registry of 6,903 patients, we identified 102 women who carried a BRCA1 founder mutation and who had been treated for breast cancer with neoadjuvant chemotherapy. Pathologic complete response was evaluated using standard criteria. Results Twenty-four (24%) of the 102 BRCA1 mutation carriers experienced a pCR. The response rate varied widely with treatment: a pCR was observed in one (7%) of 14 women treated with cyclophosphamide, methotrexate, and fluorouracil (CMF); in two (8%) of 25 women treated with doxorubicin and docetaxel (AT); in 11 (22%) of 51 women treated with doxorubicin and cyclophosphamide (AC) or fluorouracil, doxorubicin, and cyclophosphamide (FAC), and in 10 (83%) of 12 women treated with cisplatin. Conclusion A low rate of pCR was observed in women with breast cancer and a BRCA1 mutation who were treated with AT or CMF. A high rate of pCR was seen after treatment with cisplatin. An intermediate rate of PCR was associated with AC or FAC. The relative benefits of AC and platinum therapy need to be confirmed through follow-up of this and other cohorts.

Early breast cancer: evaluation of the prognostic role of the site of the primary tumor.

1998 ◽  
Vol 16 (4) ◽  
pp. 1363-1366 ◽  
Author(s):  
R Zucali ◽  
L Mariani ◽  
E Marubini ◽  
R Kenda ◽  
L Lozza ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Early Breast Cancer ◽  
Distant Metastases ◽  
Breast Cancers ◽  
Prognostic Role ◽  
Long Term Follow Up ◽  
Internal Mammary

PURPOSE The prognostic role of the site of the primary breast cancer has not been clarified. This study aimed to gather more information about this issue from a large series of patients with long-term follow-up data. PATIENTS AND METHODS Data from 2,396 patients treated for early breast cancer with a conservative approach were reviewed (1973 to 1989). In 1,619 patients, the tumor had a lateral site, while in 777 cases, it was situated in the internal/central quadrants. The characteristics of the two groups were well balanced, apart from axillary nodal metastases, which were more frequent for lateral tumors (38.1% v 26.3%). RESULTS Analysis of distant metastases indicated that the regression coefficient associated with tumor site was significant and the hazards ratio estimate was 1.291, which indicates the risk of distant metastases was increased by approximately 30% for internal/central tumors. The analysis of overall survival yielded a significant coefficient and a hazards ratio of 1.192, which indicates an approximately 20% increase of mortality for internal/central tumors. CONCLUSION Early breast cancers situated in central/ internal quadrants have a worse prognosis compared with those in lateral quadrants, in terms of distant metastases and survival. Irradiation of the internal mammary chain for internal/medial tumors could be suggested, but, to date, the therapeutic strategy is still controversial.

Total estrogen blockade and chemotherapy in high-risk premenopausal early breast cancer (BC): Long-term follow-up of a phase II study.

2014 ◽  
Vol 32 (15_suppl) ◽  
pp. 537-537
Author(s):  
Francesco Recchia ◽  
Giampiero Candeloro ◽  
Alisia Cesta ◽  
Stefano Necozione ◽  
Silvio Rea ◽  
...  
Keyword(s):  
Breast Cancer ◽  
High Risk ◽  
Early Breast Cancer ◽  
Phase Ii ◽  
Phase Ii Study ◽  
Long Term Follow Up

scholarly journals Utilisation of Prophylactic Mastectomy in 10 European Centres

1999 ◽  
Vol 15 (1-3) ◽  
pp. 148-151 ◽  
Author(s):  
D. G. R. Evans ◽  
E. Anderson ◽  
F. Lalloo ◽  
H. Vasen ◽  
M. Beckmann ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Psychological Assessment ◽  
Prophylactic Mastectomy ◽  
Prophylactic Surgery ◽  
Breast Cancers ◽  
Screening Service ◽  
Long Term Follow Up ◽  
Extended Group

Increasingly women at high risk of breast cancer are opting for prophylactic surgery to reduce their risks. Data from 10 European centres that offer a risk counselling and screening service to women at risk show different approaches to the option of preventive surgery, although most centres adhere to a protocol including at least two risk counselling sessions and a psychological assessment. Thus far the combined centres have data on 174 women who have undergone prophylactic mastectomy with in excess of 400 women years of follow up. Operations were carried out on women with lifetime risks of 25–80%, with an average annual expected incidence rate of 1% per women. No breast cancers have occurred in this cohort. Long term follow up on an extended group of women will be necessary to truly address the risk of subsequent breast cancer and the psychological sequelae.

Adherence to extended adjuvant endocrine therapy following Breast Cancer Index (BCI) testing in women with early-stage hormone receptor (HR)-positive breast cancers.

2020 ◽  
Vol 38 (15_suppl) ◽  
pp. 527-527
Author(s):  
Julia Foldi ◽  
Catherine A. Schnabel ◽  
Max Salganik ◽  
Lajos Pusztai ◽  
Tara B. Sanft
Keyword(s):  
Breast Cancer ◽  
High Risk ◽  
Endocrine Therapy ◽  
Risk Group ◽  
Early Stage ◽  
Distant Recurrence ◽  
Breast Cancers ◽  
High Likelihood ◽  
Dxa Scans

527 Background: Evidence suggests continuing endocrine therapy (ET) beyond 5 years (yr) may reduce breast cancer recurrence in early stage HR+ breast cancers. Given the modest benefit and potentially serious adverse effects of extended ET (EET), improved approaches to identify patients who are at increased risk of late distant recurrence and who derive benefit from EET are critical. Guidelines recommend shared decision-making between oncologists and patients. The adherence rate to EET by 5 yr is only 50-60%. BCI is a gene-expression assay used to predict late distant recurrence and is predictive of benefit from EET. We assessed adherence to EET in women who had BCI testing. Methods: Women with stage I-III HR+ breast cancer s/p 3.5 yr of adjuvant ET and had BCI testing at our institution (8/2013-7/2015) were included. Pts who had < 4 yr of follow-up since BCI testing were excluded. Information including demographics, tumor characteristics, treatment history, number DXA scans, history of osteopenia/osteoporosis were collected. Data on medication adherence was based on prescriptions in the electronic health record. Results: 102 pts were included in our analysis. The median age was 61yr (46-89 yr). The majority of pts had stage I (63%), N0 (77%) and HER2- (90%) disease. 50 pts (46%) received chemotherapy. 44 (43%) received tamoxifen and 79 (77%) had an aromatase inhibitor. BCI categorized 61 (60%) pts as low risk, 26 (25%) as intermediate, and 15 (15%) as high risk for late distant recurrence. 61 (60%) and 41 (40%) pts were predicted to have low and high likelihood of benefit from EET, respectively. All 15 (100%) pts categorized as high risk for late recurrence were predicted to have a high likelihood to benefit from EET; all were recommended to continue EET by their oncologist and all 15 elected EET. 11 (73%) completed 10 yr or were on EET at last follow-up. Of the 4 (27%) pts who stopped before 10 yr, 1 pt had metastatic recurrence and 3 had intolerable side effects. Pts on EET underwent an avg of 1.91 DXA scans, compared with 1.23 for those who stopped ET at 5 yr (p = 0.003). At a median follow-up of 10 yr from diagnosis, there were 2 metastatic (1/15 in the high risk and 1/26 in the intermediate risk group) and 1 local recurrence (1/61 in the low risk group). Conclusions: In pts who continued ET beyond 5 years based on BCI testing and discussion with their oncologist, the rates of adherence and persistence to EET were higher than those previously published. EET may increase the number of DXA scans performed.

scholarly journals Microcalcification-Associated Breast Cancer: Presentation, Successful First Excision, Long-Term Recurrence and Survival Rate

Breast Care ◽  
2015 ◽  
Vol 10 (6) ◽  
pp. 380-385 ◽  
Author(s):  
Marga B. Rominger ◽  
Carolin Steinmetz ◽  
Ronny Westerman ◽  
Annette Ramaswamy ◽  
Ute-Susann Albert
Keyword(s):  
Breast Cancer ◽  
Survival Rate ◽  
Breast Imaging ◽  
Breast Conservation ◽  
Breast Conserving Therapy ◽  
Cancer Center ◽  
Breast Cancers ◽  
Term Survival

Introduction: In this study we evaluated mammographic, histological and immunohistochemical findings for microcalcification-associated breast cancer with regards to breast-conserving therapy, recurrence and survival rate. Patients and Methods: We retrospectively analyzed 99 consecutive, non-palpable and microcalcification-associated breast cancers (94 women) that were treated surgically between January 2002 and December 2003 at a national academic breast cancer center. Calcifications were classified according to the Breast Imaging Reporting and Data System (BI-RADS). Descriptors, surgical outcome and histological findings were assessed. Recurrences and survival rates were evaluated based on medical records, standardized patient questionnaires and/or contacting the physician. Results: 42 of the 99 lesions (42.4%) were invasive carcinomas, 57 (57.6%) were pure ductal carcinoma in situ (DCIS). 6 out of 99 (6.1%) lesions were triple negative, and 29 (29.3%) were HER2/neu positive. Successful first excision rate was 76/99 lesions (76.8%). Breast conservation was achieved in 73.7% (73/99). 10 women showed local recurrences without negatively impacting survival. The recurrences included round/punctate, amorphous, fine pleomorphic, and fine linear or fine-linear branching descriptors. The breast cancer-specific long-term survival rate was 91/94 (96.8%) for a mean follow-up of 81.4 months. The 3 patients who died due to breast carcinoma showed fine pleomorphic calcifications, and had nodal-positive invasive carcinoma at diagnosis. Conclusion: Microcalcification-associated breast cancers are frequently treated with breast-conserving therapy. Continuous clinical and mammographic follow-up is recommended for all descriptors.

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

2010 ◽  
Vol 28 (36) ◽  
pp. 5265-5273 ◽  
Author(s):  
Adriana J. Rijnsburger ◽  
Inge-Marie Obdeijn ◽  
Reinoutje Kaas ◽  
Madeleine M.A. Tilanus-Linthorst ◽  
Carla Boetes ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Brca2 Mutation ◽  
Risk Groups ◽  
Long Term Results ◽  
Breast Cancers ◽  
Moderate Risk ◽  
Mutation Carriers ◽  
Screening Study

Purpose The Dutch MRI Screening Study on early detection of hereditary breast cancer started in 1999. We evaluated the long-term results including separate analyses of BRCA1 and BRCA2 mutation carriers and first results on survival. Patients and Methods Women with higher than 15% cumulative lifetime risk (CLTR) of breast cancer were screened with biannual clinical breast examination and annual mammography and magnetic resonance imaging (MRI). Participants were divided into subgroups: carriers of a gene mutation (50% to 85% CLTR) and two familial groups with high (30% to 50% CLTR) or moderate risk (15% to 30% CLTR). Results Our update contains 2,157 eligible women including 599 mutation carriers (median follow-up of 4.9 years from entry) with 97 primary breast cancers detected (median follow-up of 5.0 years from diagnosis). MRI sensitivity was superior to that of mammography for invasive cancer (77.4% v 35.5%; P < .00005), but not for ductal carcinoma in situ. Results in the BRCA1 group were worse compared to the BRCA2, the high-, and the moderate-risk groups, respectively, for mammography sensitivity (25.0% v 61.5%, 45.5%, 46.7%), tumor size at diagnosis ≤ 1 cm (21.4% v 61.5%, 40.9%, 63.6%), proportion of DCIS (6.5% v 18.8%, 14.8%, 31.3%) and interval cancers (32.3% v 6.3%, 3.7%, 6.3%), and age at diagnosis younger than 30 years (9.7% v 0%). Cumulative distant metastasis-free and overall survival at 6 years in all 42 BRCA1/2 mutation carriers with invasive breast cancer were 83.9% (95% CI, 64.1% to 93.3%) and 92.7% (95% CI, 79.0% to 97.6%), respectively, and 100% in the familial groups (n = 43). Conclusion Screening results were somewhat worse in BRCA1 mutation carriers, but 6-year survival was high in all risk groups.

scholarly journals The somatic mutation profiles of 2,433 breast cancers refine their genomic and transcriptomic landscapes

2016 ◽  
Vol 7 (1) ◽  
Author(s):  
Bernard Pereira ◽  
Suet-Feung Chin ◽  
Oscar M. Rueda ◽  
Hans-Kristian Moen Vollan ◽  
Elena Provenzano ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Driver Mutations ◽  
Breast Cancers ◽  
Tumour Heterogeneity ◽  
Driver Genes ◽  
Genomic Landscape ◽  
Er Positive ◽  
Low Levels

Abstract The genomic landscape of breast cancer is complex, and inter- and intra-tumour heterogeneity are important challenges in treating the disease. In this study, we sequence 173 genes in 2,433 primary breast tumours that have copy number aberration (CNA), gene expression and long-term clinical follow-up data. We identify 40 mutation-driver (Mut-driver) genes, and determine associations between mutations, driver CNA profiles, clinical-pathological parameters and survival. We assess the clonal states of Mut-driver mutations, and estimate levels of intra-tumour heterogeneity using mutant-allele fractions. Associations between PIK3CA mutations and reduced survival are identified in three subgroups of ER-positive cancer (defined by amplification of 17q23, 11q13–14 or 8q24). High levels of intra-tumour heterogeneity are in general associated with a worse outcome, but highly aggressive tumours with 11q13–14 amplification have low levels of intra-tumour heterogeneity. These results emphasize the importance of genome-based stratification of breast cancer, and have important implications for designing therapeutic strategies.

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