• 제목/요약/키워드: Familial cancer

검색결과 82건 처리시간 0.021초

Microsatellite Instability Is Associated with the Clinicopathologic Features of Gastric Cancer in Sporadic Gastric Cancer Patients

  • Kim, Shin-Hyuk;Ahn, Byung-Kyu;Nam, Young-Su;Pyo, Joo-Youn;Oh, Young-Ha;Lee, Kang-Hong
    • Journal of Gastric Cancer
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    • 제10권4호
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    • pp.149-154
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    • 2010
  • Purpose: Replication error is an important mechanism in carcinogenesis. The microsatellite instability (MSI-H) of colorectal cancers is associated with the development of multiple cancers. The influence of MSI-H on the development of multiple gastric cancers in sporadic gastric cancer patients has not been defined. This study was performed to reveal the association between the clinicopathologic features and MSI in sporadic gastric cancers. Materials and Methods: Between July 2004 and March 2009, the clinicopathologic characteristics, including MSI status, were evaluated in 128 consecutive patients with sporadic gastric cancers. None of the patients had hereditary non-polyposis colorectal cancer of familial gastric cancer. The markers that were recommended by the NCI to determine the MSI status for colorectal cancers were used Results: MSI-H cancers were found in 10.9% of the patients (14/128). Synchronous gastric cancers were shown in 4 patients (3.1%). Synchronous cancers were found in 2 of 14 patients with MSI-H gastric cancer (14.3%) and 2 of 114 patients with MSS gastric cancer (1.8%; P=0.059, Fisher's exact test). Among the patients with synchronous cancer 50% (2/4) had MSI-H cancer, but 9.7% of the patients (12/124) without synchronous cancer had MSI-H cancer. MSI-H (RR, 24.7; 95% CI, 1.5~398.9; P=0.024) was related with to synchronous gastric cancer, but age, gender, family history, histologic type, location, gross morphology, size, and stage were not related to synchronous gastric cancer. Conclusions: MSI is associated with the intestinal-type gastric cancer and the presence of multiple gastric cancers in patients with sporadic gastric cancer. Special attention to the presence of synchronous and the development of metachronous multiple cancer in patients with MSI-H gastric cancer is needed.

The Clinical, Molecular, and Mechanistic Basis of RUNX1 Mutations Identified in Hematological Malignancies

  • Yokota, Asumi;Huo, Li;Lan, Fengli;Wu, Jianqiang;Huang, Gang
    • Molecules and Cells
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    • 제43권2호
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    • pp.145-152
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    • 2020
  • RUNX1 plays an important role in the regulation of normal hematopoiesis. RUNX1 mutations are frequently found and have been intensively studied in hematological malignancies. Germline mutations in RUNX1 cause familial platelet disorder with predisposition to acute myeloid leukemia (FPD/AML). Somatic mutations of RUNX1 are observed in various types of hematological malignancies, such as AML, acute lymphoblastic leukemia (ALL), myelodysplastic syndromes (MDS), myeloproliferative neoplasm (MPN), chronic myelomonocytic leukemia (CMML), and congenital bone marrow failure (CBMF). Here, we systematically review the clinical and molecular characteristics of RUNX1 mutations, the mechanisms of pathogenesis caused by RUNX1 mutations, and potential therapeutic strategies to target RUNX1-mutated cases of hematological malignancies.

Low Level of Consanguinity in Moroccan Families at High Risk of Breast Cancer

  • Elalaoui, Siham Chafai;Jaouad, Imane Cherkaoui;Laarabi, Fatima Zahra;Elgueddari, Brahim El Khalil;Benjaafar, Noureddine;Sefiani, Abdelaziz
    • Asian Pacific Journal of Cancer Prevention
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    • 제14권2호
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    • pp.723-726
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    • 2013
  • Background: Breast cancer is worldwide the most common cancer in women and is a major public health problem. Genes with high or low penetrance are now clearly implicated in the onset of breast cancer, mostly the BRCA genes. All women in families at high risk of breast cancer do not develop tumours, even when they carry the familial mutation, suggesting the existence of genetic and environmental protective factors. Several studies have shown that consanguinity is linked to a decreased or an increased risk of breast cancer, but to the best of our knowledge, there is no study concerning the association between consanguinity and the occurrence of tumours in women with high risk of breast cancer. The objective of this study was to examine whether parental consanguinity in families with genetic predisposition to breast cancer affect the risk of siblings for having this cancer. Materials and Methods: Over a six-year period, 72 different patients with a histological diagnosis of breast or ovarian cancer from 42 families were recruited for genetic counselling to the Department of Medical Genetics, Rabat. Consanguinity rate was determined in cases and compared to the consanguinity rate in the Moroccan general population. Results: Consanguinity rates were 9.72% in patients and 15.3% in controls, but the difference was statistically not significant (p>0.001) and the mean coefficient of consanguinity was lower in breast cancer patients (0.0034) than in controls (0.0065). Conclusions: Despite the relatively small sample size of the current study, our results suggest that parental consanguinity in Moroccan women might not be associated with an altered risk of breast cancer. Large scale studies should be carried out to confirm our results and to develop public health programs.

No Increase in Breast Cancer Risk in Japanese Women Taking Oral Contraceptives: a Case-Control Study Investigating Reproductive, Menstrual and Familial Risk Factors for Breast Cancer

  • Ichida, Miho;Kataoka, Akemi;Tsushima, Ruriko;Taguchi, Tetsuya
    • Asian Pacific Journal of Cancer Prevention
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    • 제16권9호
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    • pp.3685-3690
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    • 2015
  • Background: Low-dose oral contraceptives (OC) were approved by the Japanese Ministry of Health, Labor and Welfare in 1999, yet despite their contraceptive and non-contraceptive health benefits, only 5% of the target population use them. Fear of increased cancer risk, particularly breast cancer, is one reason for this. Due to low OC uptake and low screening participation, a paucity of data is available on the risk of OC use and breast cancer in Japanese women. The present study investigated OC use and breast cancer risk, as well as menstrual, reproductive and family factors. Materials and Methods: This was a clinic-based case-control study of women aged 20-69yrs who had undergone breast screening between January 2007 and December 2013 in central Tokyo. In all, 28.8% of the participants had experience with OC use. Cases were 155 women with a pathologically confirmed diagnosis of breast cancer. Controls were the remaining 12,333 women. Results: Increased age was a significant risk factor for breast cancer (p<0.001). A lower risk was found in premenopausal women presently taking OC compared to never users (OR 0.45; 95% CI 0.22-0.90) after adjusting for age, parity and breast feeding, and a family history of breast cancer. Conclusions: Increased age rather than OC use had a greater effect on breast cancer risk. This risk may be decreased in premenopausal women with OC use, but further long-term prospective studies are necessary.

대구ㆍ경북지역 대장직장암 환자의 식사관련 위험인자의 분석 (I) -대장직장암 환자의 일상생활 패턴 및 식행동 특성- (Analysis of Dietary Risk Factors of the Colorectal Cancer Patients in DaeguㆍKyungpook Area, Korea (I) - A Study on Lifestyle and Eating Behaviors of the Colorectal Cancer Patients -)

  • 서수원;구보경;전수한;이혜성
    • Journal of Nutrition and Health
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    • 제38권2호
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    • pp.125-143
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    • 2005
  • The purposes of this study were to investigate the characteristics of lifestyle and dietary habits of the colorectal cancer patients in Daegu and Kyungpook areas and to collect the data useful for nutrition education for the prevention of colorectal cancer in this community. The case subjects of the study were 123 patients diagnosed recently as colorectal cancer at Kyungpook National University Hospital. The control subjects were 182 persons who did not have any gastrointestinal diseases, including the patients from the department of orthopedic surgery and healthy volunteers. The survey covering general characteristics, life style, dietary habits, eating behaviors, and food intake frequency was administered by individual interviews using questionnaires. The results of the study suggest that high BMI, daily life stress, pessimistic personality, lack of physical activities, and familial cancer history might be the possible risk factors for the incidence of colorectal cancer. Dietary factors suspected as risk factors for colorectal cancer in the present study included strong preferences to meats, salty and fatty taste foods, low intake of water, alcohol drinking, smoking, coffee intake and irregular eating habits. A high consumption of seaweeds, green-yellow vegetables, light-colored vegetables, and green tea was suggested as a preventive factor for colorectal cancer. It is recommended to conduct more extensive and systematic surveys in the near future to reconfirm the risk factors of colorectal cancer in consideration of the characteristic food culture in this community. The results of the present study may be applied to nutritional education for the prevention of colorectal cancer for the local residents. (Korean J Nutrition 38(2): 125~143, 2005)

Epidemioclinical Feature of Early-Onset Colorectal Cancer at-Risk for Lynch Syndrome in Central Iran

  • Zeinalian, Mehrdad;Hashemzadeh-Chaleshtori, Morteza;Akbarpour, Mohammad Javad;Emami, Mohammad Hassan
    • Asian Pacific Journal of Cancer Prevention
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    • 제16권11호
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    • pp.4647-4652
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    • 2015
  • Background: Colorectal cancer (CRC) is becoming one of the most complicated challenges of human health, particularly in developing countries like Iran. In this paper, we try to characterize CRC cases diagnosed < age 50 at-risk for Lynch syndrome within central Iran. Materials and Methods: We designed a descriptive retrospective study to screen all registered CRC patients within 2000-2013 in Poursina Hakim Research Center (PHRC), a referral gastroenterology clinic in central Iran, based on being early-onset (age at diagnosis ${\leq}50years$) and Amsterdam II criteria. We calculated frequencies and percentages by SPSS 19 software to describe clinical and family history characteristics of patients with early-onset CRC. Results: Overall 1,659 CRC patients were included in our study of which 413 (24.9%) were ${\leq}50years$ at diagnosis. Of 219/413 successful calls 67 persons (30.6%) were reported deceased. Family history was positive for 72/219 probands (32.9%) and 53 families (24.2%) were identified as familial colorectal cancer (FCC), with a history of at-least three affected members with any type of cancer in the family, of which 85% fulfilled the Amsterdam II Criteria as hereditary non-polyposis colorectal cancer (HNPCC) families (45/219 or 20.5%). Finally, 14 families were excluded due to proband tumor tissues being unavailable or unwillingness for incorporation. The most common HNPCC-associated extracolonic-cancer among both males and females of the families was stomach, at respectively 31.8 and 32.7 percent. The most common tumor locations among the 31 probands were rectum (32.3%), sigmoid (29.0%), and ascending colon (12.9%). Conclusions: Given the high prevalence of FCC (~1/4 of early-onset Iranian CRC patients), it is necessary to establish a comprehensive cancer genetic counseling and systematic screening program for early detection and to improve cancer prognosis among high risk families.

Total and Partial Prevalence of Cancer Across Kerman Province, Iran, in 2014, Using an Adapted Generalized Network Scale-Up Method

  • Vardanjani, Hossein Molavi;Baneshi, Mohammad Reza;Haghdoost, AliAkbar
    • Asian Pacific Journal of Cancer Prevention
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    • 제16권13호
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    • pp.5493-5498
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    • 2015
  • Due to the lack of nationwide population-based cancer registration, the total cancer prevalence in Iran is unknown. Our previous work in which we used a basic network scale-up (NSU) method, failed to provide plausible estimates of total cancer prevalence in Kerman. The aim of the present study was to estimate total and partial prevalence of cancer in southeastern Iran using an adapted version of the generalized network scale-up method. A survey was conducted in 2014 using multi-stage cluster sampling. A total of 1995 face-to-face gender-matched interviews were performed based on an adapted version of the NSU questionnaire. Interviewees were asked about their family cancer history. Total and partial prevalence were estimated using a generalized NSU estimator. The Monte Carlo method was adopted for the estimation of upper/lower bounds of the uncertainty range of point estimates. One-yr, 2-3 yr, and 4-5 yr prevalence (per 100,000 people) was respectively estimated at 78 (95%CI, 66, 90), 128 (95%CI, 118, 147), and 59 (95%CI, 49, 70) for women, and 48 (95%CI, 38, 58), 78 (95%CI, 66, 91), and 42 (95%CI, 32, 52) for men. The 5-yr prevalence of all cancers was estimated at 0.18 percent for men, and 0.27 percent for women. This study showed that the generalized familial network scale-up method is capable of estimating cancer prevalence, with acceptable precision.

RET Proto Oncogene Mutation Detection and Medullary Thyroid Carcinoma Prevention

  • Yeganeh, Marjan Zarif;Sheikholeslami, Sara;Hedayati, Mehdi
    • Asian Pacific Journal of Cancer Prevention
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    • 제16권6호
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    • pp.2107-2117
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    • 2015
  • Thyroid cancer is the most common endocrine neoplasia. The medullary thyroid carcinoma (MTC) is one of the most aggressive forms of thyroid malignancy,accounting for up to 10% of all types of this disease. The mode of inheritance of MTC is autosomal dominantly and gain of function mutations in the RET proto-oncogene are well known to contribute to its development. MTC occurs as hereditary (25%) and sporadic (75%) forms. Hereditary MTC has syndromic (multiple endocrine neoplasia type 2A, B; MEN2A, MEN2B) and non-syndromic (Familial MTC, FMTC) types. Over the last two decades, elucidation of the genetic basis of tumorigenesis has provided useful screening tools for affected families. Advances in genetic screening of the RET have enabled early detection of hereditary MTCs and prophylactic thyroidectomy for relatives who may not show any symptom sof the disease. In this review we emphasize the main RET mutations in syndromic and non syndromic forms of MTC, and focus on the importance of RET genetic screening for early diagnosis and management of MTC patients, based on American Thyroid Association guidelines and genotype-phenotype correlation.

17세 이하에 발견된 위암 2예 (Two Cases of Teenage Gastric Cancer Patients)

  • 김훈엽;박도중;박효진;이혁준;양한광;김우호;이건욱;최국진
    • Journal of Gastric Cancer
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    • 제4권3호
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    • pp.180-185
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    • 2004
  • Recently, we experienced two advanced gastric cancer (AGC) patients younger than 17 years of age. The first case was a 15-year, 2-month-old male who had suffered from epigastric soreness for 5 weeks. His grandfather died of gastric cancer at 39 years of age. Under the diagnosis of AGC, he underwent a total gastrectomy with D2 lymph node dissection. There was no evidence of distant metastasis. Pathologic examination revealed a 4.5$\times$4 cm, signet ring cell adenocarcinoma with subserosal invasion and with metastasis in 9 of 42 regional lymph nodes (T2bN2M0). The second case was a 17-year, 11-month-old male who had suffered from epigastric pain for 2 years without familial clustering. Under the diagnosis of AGC, he underwent a distal subtotal gastrectomy with D2 lymph node dissection. There was no evidence of distant metastasis. Pathologic examination revealed a 3$\times$2 cm, signet ring cell adenocarcinoma with subserosal invasion and with metastasis in 9 of 45 regional lymph nodes (T2bN2M0). The two patients have been alive without recurrence for 27 months and 4 months, respectively. Even among teenagers, patients with abdominal complaints should be subjected to a thorough examination of the gastrointestinal tract.

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I Do Not Even Say "It" - a Mixed Methods Study on Breast Cancer Awareness of Omani Women

  • Alkhasawneh, Esra;Siddiqui, Saad T;Leocadio, Michael;Seshan, Vidya;Al-Farsi, Yahya;Al-Moundhri, Mansour S
    • Asian Pacific Journal of Cancer Prevention
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    • 제17권4호
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    • pp.2247-2254
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    • 2016
  • Background: The incidence of breast cancer is rising in Oman, and the disease is diagnosed at late stages, when treatment success is limited. Omani women might benefit from better awareness, so that breast cancer can be detected early and treated. This study was conducted to assess Omani women's levels of breast cancer awareness and early detection practice, and explore factors which might influence these levels. Materials and Methods: A mixed methods study was conducted in 2014, including a quantitative survey of 1,372 and a qualitative assessment of 19 Omani women, aged ${\geq}20years$ from five Omani governorates using convenient sampling. Demographic information and scores for awareness levels were used in a multivariate regression model to investigate factors associated with awareness. Thematic analysis and interpretive description were used to analyse the qualitative data. Results: The overall means for early detection and general awareness scores were 0.58 (SD 0.24) and 0.46 (SD 0.21), respectively. General awareness was significantly associated with age, education, income and familiarity with cancer patients (p<0.05), while early detection was significantly associated with age, marital status and education. A majority of women (59.5%) agreed with a belief in 'evil eye' or envy as a risk factor for breast cancer. Women discussed various factors which may empower or inhibit awareness, including the cultural-religion-fatalistic system, personal-familial-environmental system, and healthcare-political-social system. Conclusions: The overall low scores for awareness and early detection, and the survey of local beliefs highlight a severe necessity for a contextually-tailored breast cancer awareness intervention programme in Oman.