scholarly journals Co-occurrence of thyroid and breast cancer is associated with an increased oncogenic SNP burden

BMC Cancer ◽  
2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Bence Bakos ◽  
András Kiss ◽  
Kristóf Árvai ◽  
Balázs Szili ◽  
Barbara Deák-Kocsis ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Thyroid Cancer ◽  
Mean Difference ◽  
Genetic Profile ◽  
Retrospective Case ◽  
Monogenic Disorders ◽  
Potential Association ◽  
History Of ◽  
Weighted Number ◽  
The Difference

Abstract Background Epidemiological evidence suggests that synchronous or metachronous presentation of breast and thyroid cancers exceeds that predicted by chance alone. The following potential explanations have been hypothesized: common environmental or hormonal factors, oncogenic effect of the treatment for the first cancer, closer follow-up of cancer survivors, shared underlying genetic risk factors. While some cases were found to be related to monogenic disorders with autosomal inheritance, the genetic background of most cases of co-occurring breast and thyroid cancer is thought to be polygenic. Methods In this retrospective case-control study we compared the genetic profile of patients with a history of breast cancer (n = 15) to patients with co-occurring breast and thyroid cancer (n = 19) using next generation sequencing of 112 hereditary cancer risk genes. Identified variants were categorized based on their known association with breast cancer and oncogenesis in general. Results No difference between patients with breast and double cancers was observed in clinical and pathological characteristics or the number of neutral SNPs. The unweighted and weighted number of SNPs with an established or potential association with breast cancer was significantly lower in the group with breast cancer only (mean difference − 0.58, BCa 95% CI [− 1.09, − 0.06], p = 0.029, and mean difference − 0.36, BCa 95% CI [− 0.70, − 0.02], p = 0.039, respectively). The difference was also significant when we compared the number of SNPs with potential or known association with any malignancy (mean difference − 1.19, BCa 95% CI [− 2.27, − 0.11], p = 0.032 for unweighted, and mean difference − 0.73, BCa 95% CI [− 1.32, − 0.14], p = 0.017 for weighted scores). Conclusion Our findings are compatible with the hypothesis of genetic predisposition in the co-occurrence of breast and thyroid cancer. Further exploration of the underlying genetic mechanisms may help in the identification of patients with an elevated risk for a second cancer at the diagnosis of the first cancer.

scholarly journals MON-444 The Case of a Rare Anaplastic Thyroid Cancer Variant with Rhabdoid Features

2020 ◽  
Vol 4 (Supplement_1) ◽  
Author(s):  
Jennifer Foster ◽  
Veronica Diedrich ◽  
Talayna Leonard ◽  
Mahmood Shahlapour ◽  
Mohamad Hosam Horani
Keyword(s):  
Breast Cancer ◽  
Thyroid Cancer ◽  
Thyroid Carcinoma ◽  
Total Thyroidectomy ◽  
Treatment Options ◽  
Anaplastic Carcinoma ◽  
Chemoradiation Therapy ◽  
High Grade ◽  
History Of ◽  
Rhabdoid Features

Abstract Introduction: We present a very rare case of a variant of anaplastic carcinoma, a high-grade thyroid carcinoma with rhabdoid features. Less than 15 cases have been reported in English literature over the last 20 years. The prognosis of thyroid cancer with this variant phenotype is unfortunately very poor with a mean survival time of only 6 months after diagnosis. Treatment includes surgery, often a total thyroidectomy due to the rapid rate of growth of this tumor type. The benefits of chemotherapy and radiation are not yet apparent. Case presentation: A 49 year old female with history of breast cancer status-post recent chemoradiation therapy presented to the emergency department for a rapidly enlarging, right-sided neck mass. The mass had been present for approximately one month, but it was estimated to have grown from 3cm to 5cm within the two weeks prior. The patient was being followed by her ENT specialist and had a recent outpatient CT scan done. The results of the CT revealed a large thyroid tumor partially obstructing the esophagus and given the rapid progression of symptoms, she was instructed to go straight to the ED for emergent admission. Upon arrival, the patient reported not having consumed any solids or liquids for the past day due to concerns of aspiration and increasing neck pain. She had complaints of worsening dysphagia. Initial lab work revealed low thyroglobulin (1.4 ng/mL), elevated T4 (15.42 nmol/L) presumably due to Tamoxifen exposure, and elevated PTH (96.9 pg/mL), likely primary hyperparathyroidism. She was admitted and endocrine was consulted for further evaluation. The patient underwent a fine-needle aspiration biopsy showing high-grade anaplastic carcinoma with extensive necrosis and rhabdoid features. The tumor was eventually classified as stage 4B with gross extra thyroidal extension to the adventitial layers of the esophagus, thus it was determined to be unresectable. It was recommended at that time she have a percutaneous tracheostomy and feeding tube to protect her airway. However, the patient requested to be discharged so that she could obtain a second opinion regarding treatment options and prognosis. She subsequently underwent a total thyroidectomy at another hospital. Conclusion: It remains unclear whether this patient’s history of breast cancer treated with chemoradiation therapy played a role in the development of this rare thyroid carcinoma. Some cases of the rhabdoid phenotype are documented to have transformed from papillary thyroid carcinoma, for which radiation therapy is a well-known risk factor. Future studies should use molecular markers, such as BRAF V600E mutations common to papillary and anaplastic thyroid carcinomas, to help differentiate between types of thyroid cancers and avoid delayed treatment options for rapidly metastasizing thyroid tumors.

Germline mutations in cancer predisposition genes among patients with thyroid cancer.

2017 ◽  
Vol 35 (15_suppl) ◽  
pp. 1581-1581
Author(s):  
Junne Kamihara ◽  
Holly LaDuca ◽  
Emily Dalton ◽  
Virginia Speare ◽  
Judy Ellen Garber ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Thyroid Cancer ◽  
Hereditary Cancer ◽  
Clinical History ◽  
Germline Mutations ◽  
Cancer Predisposition ◽  
High Rate ◽  
Degree Relative ◽  
Clinical Genetic ◽  
History Of

1581 Background: Thyroid cancers are known component tumors of both well-described and emerging hereditary cancer syndromes. To assess the contribution of germline variants in thyroid cancer predisposition, we examined the prevalence of germline mutations among individuals with a history of thyroid cancer, compared to those with thyroid and breast cancer or breast cancer alone. Methods: Clinical histories and molecular results were reviewed for individuals with a history of thyroid and/or breast cancer, ascertained from a cohort of > 140,000 patients who underwent hereditary cancer multigene panel testing at a single commercial laboratory. Clinical history information was obtained from test requisition forms completed by ordering clinicians and from pedigrees/clinic notes, if provided. Results: Among 2,678 thyroid cancer patients, the majority were Caucasian (66.9%), female (92.3%), and/or had an additional cancer primary (71.9%), with nearly half reporting an additional breast cancer primary (49.1%). Among those with available pathology information, 4.1% had medullary thyroid cancer. The median (IQR) age at diagnosis was 38 (26,48) years, and while 94.1% had a family history of cancer, 78.8% had at least one affected 1st degree relative. Overall, 11.1% were identified as mutation carriers, defined as ≥1 pathogenic or likely pathogenic variant. Among those with thyroid cancer alone, 9.7% had a mutation, similar to those with breast cancer alone (9.7%) and those with breast and thyroid cancer only (10.5%). Genes most frequently mutated in the thyroid only group included CHEK2 (3.1%), MUTYH (monoallelic) (2.4%), APC (2.0%), ATM (1.6%), and PALB2 (1.2%). CHEK2 was the most frequently mutated gene observed in all groups, with a higher frequency seen among those with thyroid and breast cancer (5.5%) compared to breast cancer (2.5%) or thyroid cancer (3.1%) alone (p < 0.001). Conclusions: A high rate of germline mutations is observed among individuals with thyroid cancer presenting for clinical genetic testing, even in the absence of other primary cancer diagnoses. Thyroid cancer may be an under-recognized component tumor of hereditary cancer predisposition syndromes suggesting the need for further investigation.

scholarly journals A novel adipose hormone asprosin as a potential breast cancer marker

2021 ◽  
Author(s):  
Sibel OZCAN ◽  
Nilgun YILDIRIM ◽  
Mesut YUR ◽  
Mehmet Ridvan OZDEDE ◽  
Mete OZCAN
Keyword(s):  
Breast Cancer ◽  
Odds Ratio ◽  
Roc Analysis ◽  
Gynecological Cancer ◽  
Multivariable Analysis ◽  
Serum Levels ◽  
Regression Analyses ◽  
Obese Adults ◽  
Potential Association ◽  
History Of

Abstract PurposeAsprosin is a recently discovered hormone released by white adipose tissue (WAT) that is typically significantly elevated in obese adults. Consequently, the adverse effects of increasing WAT in obesity during breast cancer (BC) development and progression have attracted interest of researchers and clinical practitioners. Thus, the aim of the present study was to determine whether the asprosin levels are associated with the probability of women having BC. MethodsThe study sample comprised of 45 female patients diagnosed with invasive BC and 42 healthy women that served as controls. Asprosin serum level was quantified in all subjects by ELISA, whereas serum levels of CEA and CA 15–3 were measured using an immunology analyzer. The potential association between asprosin and BC was examined through logistic regression analyses, while samples provided by BC patients were further subjected to ROC analysis to assess the diagnostic accuracy of asprosin. ResultsAsprosin levels were significantly higher in BC patients compared to healthy controls (2.38 ± 0.54 vs. 1.39 ± 0.53 ng/mL, p < 0.001). Multivariable analysis showed that the increased asprosin levels were associated with a significantly higher risk of breast cancer after adjustments for family history of breast and/or gynecological cancer, dyslipidemia, and BMI (odds ratio = 157.92; 95% confidence interval = 17.22−1447.96). When 1.78 ng/mL was adopted as the cut-off value, AUC, sensitivity, and specificity of asprosin for BC were 0.943, 91.1%, and 88.1%, respectively. ConclusionsOur findings demonstrate that asprosin is elevated in BC and can thus be an appropriate candidate for breast cancer diagnosis.

scholarly journals Characteristics of 1270 Chinese Sibling Pairs with Cancer

2021 ◽  
Author(s):  
Ju Liu ◽  
Jian Yin ◽  
Yiwei Liu ◽  
Zhijian Xu ◽  
Kai Zhang
Keyword(s):  
Breast Cancer ◽  
Lung Cancer ◽  
Cervical Cancer ◽  
Thyroid Cancer ◽  
Digestive System ◽  
Early Screening ◽  
Cancer History ◽  
Sibling Pairs ◽  
History Of ◽  
The Individual

Abstract Background: Previous research found that the cancer history of an individual’s sibling may be a better indicator than that of the parents. We aim to provide recommendations for early screening for individuals whose sibling had been diagnosed with cancer. Methods: During the physical examination in Cancer Hospital, Chinese Academy of Medical Sciences, 43,300 people were asked if they have at least two siblings who developed cancer. Eligible participants were asked to fill out a survey and participate in interviews. Results: A total of 1270 sibling-pairs from 766 families developed cancer, including 367 pairs of brothers (Bro-pairs), 368 pairs of sisters (Sis-pairs), and 535 pairs of brother-and-sister (BroSis-pairs). The mean ages at diagnosis of cancer for the three groups were from 58 to 62 years. More than half of Bro-pairs (55.3%) or Sis-pairs (51.1%) had cancer from the same systemic origin, and more than a quarter of Bro-pairs (28.1%) and Sis-pairs (37.2%) developed the same type of cancer. However, only 36.0% of BroSis-pairs developed cancers from the same systemic origin, and 18.9% developed the same type of cancer. In Bro-pairs and BroSis-pairs, lung cancer and digestive system cancer were the most common cancers, while in Sis-pairs, breast cancer, lung cancer, cervical cancer, liver cancer and thyroid cancer the most common ones. Conclusions: If an individual’s sibling is diagnosed with cancer, the individual should be screened as soon as possible, especially for lung cancer and digestive system cancers for both sexes. For sisters, breast cancer, cervical cancer and thyroid cancer should be screened early. Additionally, genetic services are essential for individuals who have siblings with cancer.

scholarly journals A Recurrent Episode of Dermatomyositis Associated with Papillary Thyroid Cancer

2017 ◽  
Vol 2017 ◽  
pp. 1-2
Author(s):  
Vijay Gopal Eranki
Keyword(s):  
Breast Cancer ◽  
Thyroid Cancer ◽  
Papillary Thyroid Cancer ◽  
Laboratory Data ◽  
Recurrent Episode ◽  
Prior History ◽  
Papillary Thyroid ◽  
Gradual Improvement ◽  
Extensive Evaluation ◽  
History Of

Objective. It is uncommon for dermatomyositis to be associated with papillary thyroid cancer. We report an unusual case of papillary thyroid cancer presenting with dermatomyositis. Methods. The case history, imaging and laboratory data is reviewed. Results. We report the case of a 62-year-old female with a prior history of dermatomyositis and breast cancer who presented with a recurrent episode of dermatomyositis. Extensive evaluation of the cause of the dermatomyositis recurrence revealed no recurrence of the breast cancer but a thyroid nodule was identified. The nodule was biopsied and the patient was noted to have papillary thyroid cancer. The patient subsequently underwent total thyroidectomy and had gradual improvement in her dermatomyositis. Conclusion. It is very uncommon for dermatomyositis to be associated with papillary thyroid cancer.

scholarly journals Identification of BRCA- and CHEK2-related breast cancer and ovarian cancer in women in outpatient oncology clinical practice

2019 ◽  
Vol 1 (1) ◽  
pp. 22-30
Author(s):  
Svetlana Kirichek ◽  
Andrey Kirichek ◽  
Daniil Korabelnikov
Keyword(s):  
Breast Cancer ◽  
Ovarian Cancer ◽  
Clinical Practice ◽  
Control Group ◽  
Wild Type ◽  
Breast And Ovarian Cancer ◽  
Disease Characteristics ◽  
History Of ◽  
Breast Fibroadenoma ◽  
The Difference

Introduction. Currently breast cancer is considered a heterogeneous disease and spectrum of several biological subtypes. Ovarian cancer is also characterized by a variety of molecular genetic alterations. Both diseases remain the leading specific causes of death in age group 40-49 and 50-59 for females. Objective: to evaluate the frequency of mutations in the genes BRCA1/2 and CHEK2 in patients with breast cancer and patients with ovarian cancer, as well as in women with benign neoplasms of the mammary glands, and to analyze their clinical and morphological correlations with the disease characteristics in the routine clinical practice of an outpatient oncologist. Patients and Methods: Seventy-six women were included in the present analysis. All of them were observed by the oncologist in Consultative and diagnostic center of Burdenko Main Military Clinical Hospital (Moscow) between January 2016 and May 2019, and were divided in three groups: patients with breast cancer (n=20), patients with ovarian cancer (n=17) and control group of women with benign neoplasms of the mammary glands (fibrocystic mastopathy in 29, breast fibroadenoma in 11), with no history of any oncological disease. One patient has metachronous malignant neoplasms of independent (primary) multiple sites: breast and ovarian cancer. All women were genotyped for pathogenic germline mutations 185delAG, 300T>C (Cyse61Gly), 2080delA, 3819delGTAAA, 3875delGTCT, 4153delA, 5382InsC in the gene BRCA1, mutation 6174delT in the gene BRCA2 and mutations IVS2+1G>A, I157T and IVS2+1G>A in the gene CHEK2 by polymerase chain reaction real-time using a set “OncoGenetics” (LLC «Research and Production Company DNA-Technology», Russia, registration certificate № 2010/08415). Results: Pathogenic germline BRCA1 mutations were identified in 4 (20%) patients with breast cancer, 3 (17,6%) patients with ovarian cancer and 1 (2,5%) women with breast fibroadenoma. Pathogenic germline CHEK2 mutations were identified in 3 (15%) patients with breast cancer, all cases were represented by the I157T mutation. In the control group carriers of BRCA1 or BRCA2 mutations (n=2) were associated with early onset development of breast fibroadenoma in the age before 30 years. The risk of BRCA or CHEK2 mutated genes was significant higher in patients with breast cancer (45%, HR 9.0, 95% CI: 2.14 - 37.8) compared with the control group of women with benign breast tumors (5%, p <0.001). The risk of BRCA or CHEK2 mutations was also higher in patients with ovarian cancer (17.6%, HR 3.53, 95% CI: 0.65 – 19.26) compared with the control group (5%), but the difference did not reach significance (p=0.151). Genotyping BRCA and CHEK2 results were correlated (r = 0.423) with a family history: mutations were more often detected in women with a family history of cancer (42.9% versus 7.3%, p = 0.001). Women with identified mutations showed an increased risk of early onset cancer development before the age of 50 years (69.2%, HR 4.33, 95% CI: 1.64 - 11.36, p = 0.003) compared with wild-type carriers BRCA and CHEK2 genes (16%). The only case of primary multiple metachronous malignant tumors of the breast and ovaries, as well as cases of bilateral breast cancer lesions were detected only among carriers of BRCA1/2 mutations. The prevalence of aggressive high grade cancer was higher in patients with BRCA and CHEK2 mutations (63.6%, HR 2.45, 95% CI: 0.87 - 6.90) than in patients with wild type genes (47.1 %), however, the difference did not reach significance (p = 0.141). Conclusions: Our results have shown the relevance and value of identifying for BRCA- and CHEK2-related breast cancer and ovarian cancer in women in everyday clinical practice. The vast majority of cases of breast and ovarian cancer among carriers of BRCA1/2 and CHEK2 mutations are found in the working and reproductive age of women and are associated with unfavorable disease characteristics - high grade and lower survival.

scholarly journals Characteristics of 1270 Chinese sibling pairs with cancer

BMC Cancer ◽  
2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Ju Liu ◽  
Jian Yin ◽  
Yiwei Liu ◽  
Zhijian Xu ◽  
Kai Zhang
Keyword(s):  
Breast Cancer ◽  
Lung Cancer ◽  
Cervical Cancer ◽  
Thyroid Cancer ◽  
Digestive System ◽  
Opportunistic Screening ◽  
Cancer History ◽  
Sibling Pairs ◽  
History Of ◽  
The Individual

Abstract Background Previous research found that the cancer history of an individual’s sibling may be a better indicator than that of the parents. We aim to provide recommendations for opportunistic screening for individuals whose sibling had been diagnosed with cancer. Methods During the physical examination in Cancer Hospital, Chinese Academy of Medical Sciences, 43,300 people were asked if they have at least two siblings who developed cancer. Results A total of 1270 sibling-pairs from 766 families developed cancer, including 367 pairs of brothers (Bro-pairs), 368 pairs of sisters (Sis-pairs), and 535 pairs of brother-and-sister (BroSis-pairs). The mean ages at diagnosis of cancer for the three groups were from 58 to 62 years. More than half of Bro-pairs (55.3%) or Sis-pairs (51.1%) had cancer from the same systemic origin, and more than a quarter of Bro-pairs (28.1%) and Sis-pairs (37.2%) developed the same type of cancer. However, only 36.0% of BroSis-pairs developed cancers from the same systemic origin, and 18.9% developed the same type of cancer. In Bro-pairs and BroSis-pairs, lung cancer and digestive system cancer were the most common cancers, while in Sis-pairs, breast cancer, lung cancer, cervical cancer, liver cancer and thyroid cancer were the most common ones. Conclusions If an individual’s sibling is diagnosed with cancer, the individual should consider participating in opportunistic screening annually, especially for lung cancer and digestive system cancers for both sexes. For sisters, breast cancer, cervical cancer and thyroid cancer should be screened early. Additionally, genetic services are essential for individuals who have siblings with cancer.

Phase II prevention trial of celecoxib in women at increased risk for breast cancer

2007 ◽  
Vol 25 (18_suppl) ◽  
pp. 1501-1501 ◽  
Author(s):  
B. Arun ◽  
C. Logan ◽  
G. Yin ◽  
G. Yun ◽  
G. G. Hortobagyi ◽  
...  
Keyword(s):  
Breast Cancer ◽  
High Risk ◽  
Breast Tissue ◽  
Post Treatment ◽  
Ki 67 ◽  
Increased Risk ◽  
History Of ◽  
The Mean ◽  
The Difference ◽  
Er Expression

1501 Background: Tamoxifen and raloxifen reduce the risk of estrogen receptor (ER) positive breast cancer. Acceptance of SERMs is low due to toxicities. New agents with a better toxicity profile which also will prevent ER-negative breast cancer are needed. The cyclooxygenase II inhibitor celecoxib has antiproliferative, and antiangiogenetic properties and is a putative breast cancer prevention agent. Our objective in this prospective short-term prevention study was to evaluate the effect of celecoxib on biomarkers in breast tissue and serum of high risk women. Methods: High risk individuals with a history of atypical hyperplasia, or lobular carcinoma insitu, or Gail risk greater than 1.67%, or previous history of ER negative breast cancer were eligible. After signing informed consent subjects underwent baseline fine needle aspiration (FNA) of the breast and serum collection for biomarker analysis. Subjects started celecoxib at 400 mg po BID for 6 months and underwent repeat FNA and serum collection. Biomarker endpoints included changes in ER and KI-67 expression in breast tissue analyzed by immunohistochemistry and insulin like growth factor binding protein (IGFBP-1) in serum analyzed by ELISA. The difference in biomarkers before and after treatment was assessed using a Wilcoxon signed rank test. Results: 49 patients were enrolled and accrual has been completed. Median age was 51 years and 57% of women were postmenopausal. The mean pre- and post treatment ER expression was 35.5% and 31%, respectively. The difference in ER expression was not significant (p = 0.1). The mean pre- and post treatment KI-67 expression was 1.68% and 1.60%, respectively. The difference was not significant (p = 0.8). However, there was a statistically significant difference in pre- and post treatment IGFBP-1 levels (p=0.023), with pre-and post treatment levels being 6.81ng/ml and 11.51ng/ml, respectively. No grade 3 or 4 toxicities were observed and there was no drop-out from the study. Conclusions: We have found a significant modulation of IGFBP-1 levels with 6 months celecoxib treatment in women who are at increased risk of developing breast cancer. The acceptable side effect profile and modulation of the biomarker (IGFBP-1) provides support for continued evaluation of celecoxib as a breast cancer prevention agent. No significant financial relationships to disclose.

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