Case Of Bilateral Breast Cancer Research Articles

Surgical treatment of early stage breast cancer in the Auckland and Waikato regions of New Zealand.

The aim of this study was to understand the factors influencing the use of surgical options by New Zealand women with newly diagnosed breast cancer. Using data from the Auckland and Waikato breast cancer registers, we included 11 798 women diagnosed with stage I-III breast cancer from June 2000 to May 2013. The characteristics of women receiving different surgical treatments and having immediate breast reconstruction following mastectomy were examined. A logistic regression was used to estimate the odds ratio of having breast-conserving surgery (BCS) versus mastectomy and immediate post-mastectomy reconstruction. Bilateral breast cancer cases and women with unilateral breast cancer, but who had bilateral surgery, were also identified. Fifty-two percent of women received BCS and 44% had mastectomy over the study period. Key influences associated with BCS were age, mode of diagnosis, socio-economic status and public or private treatment. Just under half of the women who underwent bilateral surgery did not have bilateral cancer. Nineteen percent of women undergoing mastectomy underwent immediate reconstruction. Implant use increased slightly over the study period but there was a decrease in the use of autologous flap procedures. Surgical management of women with localized breast cancer was generally in line with guidelines, but with potential to further increase the use of breast conservation and immediate reconstruction in suitable cases.

A Case of Local Advanced Synchronous Bilateral Breast Cancer During Pregnancy

A Case of Local Advanced Synchronous Bilateral Breast Cancer During Pregnancy

Use of Breast Magnetic Resonance Imaging and Ultrasonography for Identifying Nonpalpable Axillae Metastases in Newly Diagnosed Breast Cancer Patients

BackgroundThe metastasis of axillary lymph node (ALNs) is a critical step in the initial cancer staging of newly diagnosed breast cancer (BC) patients. Various imaging modalities can enhance the sensitivity of clinical examination in assessing the ALN status. Patients and MethodsWe enrolled 135 patients with BC, confirmed via histopathology, including 4 bilateral BC cases. A total of 139 ipsilateral ALNs adjacent to the breast lesion were examined via physical examination, ultrasonography (US), and magnetic resonance imaging (MRI); of these, 100 were nonpalpable ALNs, as determined by experienced breast surgeons and physicians. The relative size parameters on MRI and US images were recorded. Receiver operating characteristic (ROC) analyses were conducted, and the area under the ROC curve (AUC) was compared. ResultsOf 139 ALNs, 67 (48%) were malignant and 72 (52%) were benign on pathological examination. In all of the ALNs, the US short diameter appeared to be the most discriminative quantitative measurement for detecting positive findings (AUC, 0.854). In nonpalpable ALNs as well, the US short diameter exhibited the greatest discriminability (AUC, 0.746). However, the 2-dimensional and 3-dimensional parameters on MRI did not exhibit any significant differences between the enrolled and nonpalpable ALNs (P > .05). ConclusionThe shortest diameter on US exhibited better discriminative ability than MRI for predicting positive ALNs in nonpalpable axillae. Moreover, the 2-dimensional and 3-dimensional parameters on MRI did not differ in terms of discriminability.

Patterns of loco regional failure in women with breast cancer treated by Postmastectomy Conformal Electron Beam Radiation Therapy (PMERT): Large scale single center experience

To evaluate loco regional control and describe the patterns of loco regional failure in women with breast cancer irradiated by a previously described post-mastectomy highly conformal electron beam radiotherapy technique. We included all women irradiated by PMERT for non-metastatic breast cancer (BC) between 2007 and 2011 in our department. All cases of bilateral BC were excluded. All patients who experienced loco regional recurrence have been studied. Mapping patterns of regional recurrences was also performed and compared with the ESTRO and RTOG Guidelines of volume definition and delineation guidelines. Among the 796 women included, 10.1% were triple-negative (TN) and 18.8% were HER2-positive and 24.6% of them had received neoadjuvant chemotherapy (CT). Internal mammary chain (IMC), supraclavicular (Level IV), infraclavicular (Levels III and II) and axillary LN (Level I) were treated in 85.6%, 88.3%, 77.9% and 14.9% of cases, respectively. With a median follow-up of 64months (range: 6-102), 5-year locoregional (RFS and OS were 90% (95% CI: 88.1-92.4) and 90.9% (95% CI: 88.9-93), respectively. Twenty-three patients (2.9%) presented locoregional recurrences. Most of them presented aggressive biological features with grade III tumors in 17 patients (74%) with high mitotic index in 16 cases (70%) and triple negative tumors in 12 (52%). Lymphovascular invasion (LVI) was observed in 11 cases (48%). In 14 cases the locoregional recurrences were diagnosed at the same time as the metastatic disease whereas 4 patients presented distant metastases secondarily. Local (Chest wall) recurrences occurred in 13 cases (56%) with the coverage by the isodose of 47.5Gy (isodose 95%). Fifteen regional recurrences (lymph nodes) were observed in 13 patients. Only 3 regional recurrences occurred within irradiated volumes and 12 regional recurrences occurred outside irradiated areas. In presented series, the local recurrences were related mostly to the tumor biological aggressivity and radio resistance. Small number was caused by geographical miss. Further follow-up and careful registration of the recurrences is needed to improve their understanding.

Abstract P4-09-26: The difference between metachronous and synchronous bilateral breast cancer in terms of clinical features and biology

Abstract Introduction The recent diagnostic modality such as MRI can diagnose a tiny breast lesion even in healthy contralateral breasts. Recently, the rate of contralateral prophylactic mastectomy (CPM) is on the rise in the United States. In Japan, the CPM has been started for selected patients with a high risk. In this study, we divided bilateral breast cancers into the synchronous and the metachronous group and then compared the clinical features and biology. Patients and Methods Out of 216 bilateral breast cancer patients who underwent surgery between 1995 and March 2015, there were 101 synchronous breast cancer cases and 115 metachronous breast cancer cases (interval to the second tumor > 1 year). The items examined were age, tumor size, lymph nodal status, histological type, and biological markers (ER, PgR, HER2, p53 and Ki-67 index values) in the cases with paired data. Results 1. The incidence of metachronous tumors was relatively stable at 2.1–2.7% throughout the period. On the other hand, the incidence of synchronous tumors has increased to 4.4% in the most recent 5-year period and the median interval was 7.1 years. 2. There was no difference in the tumor size of both tumors in the synchronous group, but the second tumor was significantly smaller than the first tumor in the metachronous group (2.2cm to 1.7cm). The node negative rates showed no difference between two groups. 3. The cases with DCIS were seen in 20% and 25% of the synchronous group and 12% and 16% of the metachronous group. Most of the patients (94.3%) with invasive cancer received systemic adjuvant therapy in the metachronous group. 4. The ER positive rates of both tumors were 87.1% and 88.1% in the synchronous group and 71.6% and 68.4% in the metachronous group, respectively. The concordance rates were higher in the synchronous group (p=0.02). Moreover, there was a significant difference in ER positive rates between the two groups (p=0.01) and the ER negative tumors were more frequent in the second tumor of the metachronous group. The PgR negative tumors increased in the second tumor of metachronous cases. The shorter the interval (< 5years), the more the ER positive rate decreased (p=0.002). However, the longer interval did not correlate with the change of receptor status. 5. The Ki-67 index values significantly increased in the second tumor of the metachronous group, especially in the cases with a shorter interval. However, there was no difference in the synchronous group. The p53 overexpression rates significantly increased in the cases with a shorter interval. 6. The postoperative prognosis for the first tumor did not differ in both groups. Conclusion The incidence of synchronous bilateral breast cancer cases have increased but have remained relatively stable in the metachronous group. The concordance rates of the ER, PgR, Ki-67 and p53 status were higher in the synchronous group but the cases with negative ER, negative PgR, higher Ki-67 values and positive p53 increased in the second tumor of the metachronous group. These findings suggest that adjuvant systemic therapy played a important role in the treatment of bilateral breast cancer but the secondary tumor was more aggressive in the metachronous cases. Citation Format: Arima N, Nishimura R, Osako T, Nishiyama Y, Fujisue M, Okumura Y, Murakami K, Toyozumi Y. The difference between metachronous and synchronous bilateral breast cancer in terms of clinical features and biology. [abstract]. In: Proceedings of the Thirty-Eighth Annual CTRC-AACR San Antonio Breast Cancer Symposium: 2015 Dec 8-12; San Antonio, TX. Philadelphia (PA): AACR; Cancer Res 2016;76(4 Suppl):Abstract nr P4-09-26.

Pictorial essay: A retrospective review of male breast diseases in Maiduguri and Kano, Nigeria

Introduction: Breast diseases in men are not as common as those in women and though male breast cancer is seen rarely, thus the lack of screening guidelines worldwide, benign breast diseases such as gynecomastia present fairly commonly in both primary and tertiary care setting. There is a paucity of information about the pattern, protocols, and imaging features of male breast diseases in Nigeria. Objective: To review the variety of presentations and radiological features of male breast diseases encountered in Aminu Kano Teaching Hospital (AKTH) and University of Maiduguri Teaching Hospital (UMTH). We wish to discuss the departmental protocols and highlight the role of mammography and sonomammography in the evaluation of male breast diseases. Materials and Methods: A 5-year retrospective review was performed on the imaging findings of a total number of 27 male patients who presented with symptoms of breast disease to the radiology departments of AKTH (12) and UMTH (15) in Nigeria. All patients had mammography and sonomammography or sonomammography alone performed by a senior radiology resident and consultant radiologist. Selected cases had ultrasound guided biopsy and histology. Results: Twenty-seven male patients were reviewed from both centers with an age range of 0.06-69 years (mean of 33.11 ± 18.10 years). The majority of patients (88.9%) presented with breast enlargement only. Concerning laterality of disease, bilateral involvement was more common (59.3%). In unilateral disease, 33.3% of patients presented with left-sided lesions while only 7.4% had right-sided involvement. Gynecomastia was seen in twenty (20) patients and was the most common breast disease seen in male patients presenting for imaging in both centers. Breast abscesses were the second most common. We saw one case of bilateral male breast cancer. Overall, bilateral disease was far more common than unilateral. Conclusion: Mammography is the most important first-line imaging modality employed in the diagnosis of male breast diseases in our environment; sonomammography is an important and radiological modality of investigation used to differentiate gynecomastia from male breast cancer and breast abscess. Gynecomastia remains the most common occurring male breast disease in our study.

A rare case of long term survival in male breast cancer patient

Male breast cancer is rare. It accounts for 0.2% of all cancers and 1% of all breast cancers. Most patients present with advanced stage and studies indicate overall survival ranging from 6 months to 3 years. Here we report a case of bilateral male breast cancer who has survived more than 25 years posttreatment.

Histopathological analysis of 40 patients with bilateral breast cancer

Objective To find an easy and proper way to differentiate metastatic breast cancer from second primary breast cancer by analyzing the histopathological characteristics of 40 patients with bilateral breast cancer. Methods According to the Chaudary histological criteria, the histopathological and biological characteristics of 16 cases of synchronous bilateral breast cancer and 24 cases of metachronous bilateral breast cancer were evaluated. The histopathological and biological characteristics included Nottingham histological grade, immunohistochemistry (IHC) results of the estrogen receptor, progesterone receptor and expression of Her-2. Results The average age of the 40 patients at first diagnosis was 41 years old (range, 26-68 years old). The average time interval between first and second diagnosis of tumors was 34 months (range, 7-209 months) in metachronous cancer. The concordant histopathological type was found in 93.8 % (15/16) of synchronous cancer patients and 58.3 % (14/24) of metachronous cancer patients (P= 0.02). The concordance rates of tumor stage was 68.8 % (11/16) in synchronous cancer patients, while it was 25.0 % (6/24) in metachronous cancer patients (P= 0.03). For progesterone receptor status, the concordance rates were 87.5 % (14/16) and 54.2 % (13/24) in synchronous and metachronous cancer patients respectively (P= 0.03). There was no statistically significant difference in terms of estrogen receptor status and Her-2 expression (P> 0.05). Conclusions Without considering the limitation of Chaudary criteria and the number of patients, it seems to be an easy and proper way to differentiate metastatic cancer from second primary cancer in the patients with bilateral breast cancer by combining the histopathological type, tumor stage and progesterone receptor status. The synchronous cancer is closer to same clonal lesion (metastatic lesion). Key words: Breast neoplasms, bilateral; Histology; Biological markers

A case of synchronous multiple bilateral breast cancer after breast augmentation.

Breast cancer after breast augmentation is not rare, but cases of bilateral breast cancer after augmentation are not often reported. A 43-year-old woman attended our hospital because of a mass in her left breast. She had undergone breast augmentation by implants 4 years before at a cosmetic surgery clinic. There were operative scars in her bilateral axilla. A detailed examination revealed bilateral breast cancer, and we performed nipple-sparing mastectomy in both breasts. Sentinel lymph node biopsy using dye was performed and it identified stained lymph nodes on both sides. The sentinel lymph node biopsy was negative for metastasis on both sides, so axillary lymph node dissection was not performed.

Mutational Profiling Can Establish Clonal or Independent Origin in Synchronous Bilateral Breast and Other Tumors.

BackgroundSynchronous tumors can be independent primary tumors or a primary-metastatic (clonal) pair, which may have clinical implications. Mutational profiling of tumor DNA is increasingly common in the clinic. We investigated whether mutational profiling can distinguish independent from clonal tumors in breast and other cancers, using a carefully defined test based on the Clonal Likelihood Score (CLS = 100 x # shared high confidence (HC) mutations/ # total HC mutations).MethodsStatistical properties of a formal test using the CLS were investigated. A high CLS is evidence in favor of clonality; the test is implemented as a one-sided binomial test of proportions. Test parameters were empirically determined using 16,422 independent breast tumor pairs and 15 primary-metastatic tumor pairs from 10 cancer types using The Cancer Genome Atlas.ResultsWe validated performance of the test with its established parameters, using five published data sets comprising 15,758 known independent tumor pairs (maximum CLS = 4.1%, minimum p-value = 0.48) and 283 known tumor clonal pairs (minimum CLS 13%, maximum p-value <0.01), across renal cell, testicular, and colorectal cancer. The CLS test correctly classified all validation samples but one, which it appears may have been incorrectly classified in the published data. As proof-of-concept we then applied the CLS test to two new cases of invasive synchronous bilateral breast cancer at our institution, each with one hormone receptor positive (ER+/PR+/HER2-) lobular and one triple negative ductal carcinoma. High confidence mutations were identified by exome sequencing and results were validated using deep targeted sequencing. The first tumor pair had CLS of 81% (p-value < 10–15), supporting clonality. In the second pair, no common mutations of 184 variants were validated (p-value >0.99), supporting independence. A plausible molecular mechanism for the shift from hormone receptor positive to triple negative was identified in the clonal pair.ConclusionWe have developed the statistical properties of a carefully defined Clonal Likelihood Score test from mutational profiling of tumor DNA. Under identified conditions, the test appears to reliably distinguish between synchronous tumors of clonal and of independent origin in several cancer types. This approach may have scientific and clinical utility.

Study on the clinicopathological characteristics of bilateral breast cancer and the mutation of p53

Objective To investigate the clinical pathologic characteristics and prognosis of bilateral breast cancer, and to determine whether clinical factors is related to p53 gene mutation. Methods Archival material was reviewed from 48 cases of bilateral breast cancar. The clinical and pathological features of bilateral breast cancer were compared and summarized. Immunohistochemical stains for P53 were performed on 33 cases of bilateral breast cancer, 141 cases of unilateral breast cancer were also examined as control. Results The five-year survival rate for bilateral breast cancer patients was 70.5%. The median age when bilatereral breast cancer first dignosed was 47.5 (range from 27 to 69). The median time interval between the first and the subsequent breast cancer diagnosis was 9.5 months. Invasive ductal breast carcinoma was the main pathologic type of bilateral breast cancer. 88.5% of bilateral breast cancer would have the same estrogen receptor (ER) status and 81.8% would have the same human epidermal growth hormone receptor 2 (HER2) status between the first and secondary primary tumors. Mutation p53 was more common among the bilateral breast cancer patients compared with the unilateral breast cancer patients (45.5% vs. 26.2%, χ2=4.711, P=0.030). There was no difference on the overall survival between bilateral breast cancer with p53(+ ) and p53(-)(χ2=0.434, P=0.510). Conclusion The main pathologic type of bilateral breast cancer is invasive ductal breast carcinoma, there is a good match of the ER and HER2 status between the first breast cancer and the contralateral one. Bilateral breast cancer patients have a similar overall survial with the unilateral breast cancer. p53 mutation is more common among bilateral breast cancer patients than those with unilateral breast cancer. Key words: Breast neoplasms; Pathology, clinical; Genes, p53; Second primary

Bilateral breast cancer among three Yoruba women in a Nigerian teaching hospital

Breast cancer is the most common cancer among females in Nigeria. Bilateral breast cancer can occur synchronously or metachronously. We report three different cases of bilateral breast cancer in three female patients managed by the Ibadan Multidisciplinary Breast Tumour Board, domiciled at the University College Hospital (UCH), over a 3-year period. Two of these patients had synchronous bilateral breast cancer and developed cancer in the second breast during the course of management. These case reports may therefore stimulate further research on the clinicopathological features and the progression of bilateral breast cancer among females, especially in our environment. Our patients were premenopausal and the immunochemistry of the tumours showed a triple-negative immunophenotype. The other features of presentation, investigation, diagnosis and follow-up care are the highlights of this presentation.

Bilateral breast cancer with a unilateral carcinoma within a fibroadenoma: A case report.

Fibroadenomas are a type of benign tumor that occur in young women below the age of 35 years old. The tumors are the second most common type of tumor after fibrocystic disease. The chance of carcinoma arising in a fibroadenoma is extremely low. To date, <130 such cases have been reported. Previous studies have reported that fibroadenomas can evolve into a number of different types of malignancy. The present study is the first to describe a case of bilateral primary breast cancer with a unilateral invasive ductal carcinoma within a fibroadenoma. The current study presents a case of a 48-year-old female who presented with 2 stiff lumps on bilateral breasts, diagnosed as bilateral breast carcinoma, with a unilateral invasive ductal carcinoma within a fibroadenoma in the right breast. The patient underwent a bilateral mastectomy and subsequently received 4 cycles of chemotherapy (epirubicin, 60 mg/m2 and cyclophosphamide, 600 mg/m2) every 21 days, followed by 4 cycles of docetaxel chemotherapy (100 mg/m2) every 21 days. The patient then received maintenance endocrine therapy (tamoxifen, 20 mg, twice daily) for 19 months. The patient was followed up every 3 months, and at the last follow-up examination in May 2015, the patient exhibited no signs of recurrence.

Intrafraction Variability and Deformation Quantification in the Breast

To evaluate intrafraction variability and deformation of the lumpectomy cavity (LC), breast, and nearby organs. Sixteen left-sided postlumpectomy and 1 bilateral breast cancer cases underwent free-breathing CT (FBCT) and 10-phase 4-dimensional CT (4DCT). Deformable image registration was used for deformation analysis and contour propagation of breast, heart, lungs, and LC between end-exhale and end-inhale 4DCT phases. Respiration-induced motion was calculated via centroid analysis. Two planning target volumes (PTVs) were compared: PTV(FBCT) from the FBCT volume with an isotropic 10 mm expansion (5 mm excursion and 5 mm setup error) and PTV(4DCT) generated from the union of 4DCT contours with isotropic 5 mm margin for setup error. Volume and geometry were evaluated via percent difference and bounding box analysis, respectively. Deformation correlations between breast/cavity, breast/lung, and breast/heart were evaluated. Associations were tested between cavity deformation and proximity to chest wall and breast surface. Population-based 3-dimensional vector excursions were 2.5 ± 1.0 mm (range, 0.8-3.8 mm) for the cavity and 2.0 ± 0.8 mm (range, 0.7-3.0 mm) for the ipsilateral breast. Cavity excursion was predominantly in the anterior and superior directions (1.0 ± 0.8 mm and -1.8 ± 1.2 mm, respectively). Similarly, for all cases, LCs and ipsilateral breasts yielded median deformation values in the superior direction. For 14 of 17 patients, the LCs and breast interquartile ranges tended toward the anterior direction. The PTV(FBCT) was 51.5% ± 10.8% larger (P<.01) than PTV(4DCT). Bounding box analysis revealed that PTV(FBCT) was 9.8 ± 1.2 (lateral), 9.0 ± 2.2 (anterior-posterior), and 3.9 ± 1.8 (superior-inferior) mm larger than PTV(4DCT). Significant associations between breast and cavity deformation were found for 6 of 9 axes. No dependency was found between cavity deformation and proximity to chest wall or breast surface. Lumpectomy cavity and breast deformation and motion demonstrated large variability. A PTV(4DCT) approach showed value in patient-specific margins, particularly if robust interfraction setup analysis can be performed.

MULTIFOCAL BILATERAL METACHRONOUS BREAST CANCER IN MAN. CLINICAL CASE

Multifocal malignant tumors (MMT) represent a comprehensive and multifaceted problem of clinical oncology. T oday, as far as observations are accumulated, there are attempts to determine a real incidence rate of multifocal tumors. Research of MMT problem becomes more and more actual and significant in oncology. Several dozen thousands of MMT observations have been described all over the world for the recent 30 years. There is a stable trend towards the increase of the number of patients with such pathology. This is primarily concerned with the improvement of diagnostics, medical treatment and increased expectation of life. Th e increase in incidence of MMT is due to such factors as increased average expectation of life, increased intensity of carcinogenic effects, urbanization, accumulation of hereditary loading and improved diagnostics of oncologic diseases. Detection and record of such pathology are based first on detection of simultaneous tumors, second – on diagnostics of tumor and retrospective determination according to life record data of the first neoplasm, third – on determination of further tumor at regular follow-up, which requires prolonged and high quality examination of the patients. MMT most commonly develop in patients elder than 50 y. o., even in elder age in men than in women. The article describes a case of bilateral breast cancer in man. Clinicopathologic and immunohistochemical characteristics of the tumor were studied, the genetic polymorphisms were investigated by the method of polymerase chain reaction, associated with the risk of breast cancer development, genetic analysis of BRCA1 and BRCA2, blood cancer markers was done. Full equivalence of clinicopathologic and biological properties of tumor of the right and left mammae, witnessing the common etiology and pathogenesis of neoplastic process, was established. Each case of bilateral breast cancer in men shall be studied with particular care and referred in international medical literature for analysis of pathogenesis of such disease.

Unusual Case of Bilateral Breast Cancer: A Pure Encapsulated Papillary Breast Tumor of the Right Breast and a Contralateral Invasive Ductal Carcinoma

Background: Intracystic papillary breast cancer is a very rare tumor that occurs most frequently in elderly postmenopausal women. Aim: In this article we presented a case of a 66-year-old woman who underwent excisional biopsy due to a right breast mass. Case presentation: Histological examination revealed the “pure” encapsulated papillary breast carcinoma without coexisting in situ neoplasm and/or invasive carcinoma. This is a rare lesion of the breast that can clinically mimic breast benign mass with only local or regionally aggressive course. Conclusion: In order to avoid misdiagnosis, both the clinician and the breast radiologist should have the possibility of diagnosing this tumor. Intracystic papillary carcinoma of the breast associated with lymph node metastasis has rarely been reported, but the sentinel lymph node biopsy may be prudent in such cases, despite the non aggressive behavior.

Advanced bilateral breast cancer, stage T4c N3 M1

The present study reports a case of advanced bilateral breast cancer with distant metastasis of 4 years for which the patient did not seek any medical advice. The aim of reporting this case is to highlight the fact that such advanced cases are still seen in developing countries.

Duration of tamoxifen use and the risk of contralateral breast cancer in BRCA1 and BRCA2 mutation carriers.

Women with a mutation in BRCA1 or BRCA2 face a lifetime risk of breast cancer of approximately 80 %. Tamoxifen treatment of the first cancer has been associated with a reduction in the risk of a subsequent contralateral cancer. We studied 1,504 women with a known BRCA1 or BRCA2 mutation, 411 women with bilateral breast cancer (cases) and 1,093 women with unilateral breast cancer (controls) in a matched case-control study. Control women were of similar age and had a similar age of diagnosis of first breast cancer as the cases. For each woman who used tamoxifen, the starting and stopping dates were abstracted and the duration of tamoxifen use was calculated. Three hundred and thirty-one women had used tamoxifen (22 %); of these 84 (25 %) had completed four or more years of tamoxifen, the remainder stopped prematurely or were current users. For women with up to 1 year of tamoxifen use, the odds ratio for contralateral breast cancer was 0.37 (95 % CI 0.20-0.69; p = 0.001) compared to women with no tamoxifen use. Among women with 1-4 years of tamoxifen use the odds ratio was 0.53 (95 % CI 0.32-0.87; p = 0.01). Among women with four or more years of tamoxifen use the odds ratio was 0.83 (95 % CI 0.44-1.55; p = 0.55). Short-term use of tamoxifen for chemoprevention in BRCA1 and BRCA2 mutation carriers may be as effective as a conventional 5-year course of treatment.

Missense mutations (p.H371Y, p.D438Y) in gene CHEK2 are associated with breast cancer risk in women of Balochistan origin

CHEK2 encodes a serine/threonine-protein kinase which plays a critical role in DNA damage signaling pathways. CHEK2 directly phosphorylates and regulates the functions of p53 and BRCA1. Most women with breast and/or ovarian cancer are not carriers of mutant BRCA1 or BRCA2. Multiple studies have shown that a CHEK2*1100delC confers about a two-fold increased risk of breast cancer in unselected females and a tenfold increase in males. Moreover, studies have shown that first-degree relatives of bilateral breast cancer cases who carried the CHEK2*1100delC allele had an eight-fold increased risk of breast cancer. It has been suggested that CHEK2 functions as a low-penetrance susceptibility gene for cancers and multiplies the risks associated with other gene(s) to increase cancer risk. The main goal of this study was to evaluate and to compare the role of truncating mutations, splice junction mutations and rare missense substitutions in breast cancer susceptibility gene CHEK2. Present study was performed on 140 individuals including 70 breast cancer patients both with and without family history and 70 normal individuals. Written consent was obtained and 3ml intravenous blood was drawn from all the subjects. DNA was extracted from all the samples through inorganic method published already. Primers were synthesized for all the 14 exons of CHEK2 gene. Coding and adjacent intronic sequences of CHEK2 gene were amplified and sequenced. Two genetic variants (p.H371Y, p.D438Y) were found in exon 10 and exon 11 of gene CHEK2 which were not found in any of the 70 control individuals from same geographical area and ethnic group. The genetic variant c.1312G>T (p.D438Y) identified in a patient with a family history of breast cancer. To our knowledge, this is first mutation scanning study of gene CHEK2 from Balochistan population.

Bilateral synchronous breast cancer in an elderly man: A case report

Bilateral synchronous breast cancers are seen extremely uncommonly in men. In this report, we describe a case of synchronous bilateral breast cancer in an elderly male without any significant risk factor. A 75-year-old male was presented with mass in right breast. After thorough clinical evaluation he underwent modified radical mastectomy for excision of tumor. Histopathologically, it was invasive duct carcinoma of grade II, stage II and positive for estrogen and progesterone receptors. Patient was managed with radiotherapy, adjuvant chemotherapy and oral tamoxifen 20 mg daily. After three months new lump in contra lateral breast was noticed. Again patient underwent modified radical mastectomy with diagnosis of invasive duct carcinoma of grade II and stage II. He received radiotherapy and hormone therapy. We managed the case of synchronous bilateral breast cancer successfully at our center. After bilateral modified radical mastectomy patient received radiotherapy, adjuvant chemotherapy and hormonal therapy with tamoxifen. Proper clinical evaluation, mammography and fine-needle aspiration cytology play important role in diagnosis of male breast cancer. In depth studies focusing on etiopathology of the disease are necessary to optimize the management of male breast cancer patients.