Abstract：
:Ovarian cancer is the fourth leading cause of cancer deaths among American women. While women in both the Ashkenazi and non-Ashkenazi populations have an estimated 1.7% lifetime risk of acquiring malignancy, the proportion of hereditary ovarian cancer is much higher in the Ashkenazim. Most of this increased proportion of hereditary ovarian cancer risk is accounted for by inherited mutations in the BRCA1 and BRCA2 genes. In the Ashkenazi Jewish population, 29 to 41% of ovarian cancer is believed to be secondary to inheriting one of three founder mutations in BRCA 1 and BRCA 2, while only 10% of ovarian cancer is attributed to mutations of these genes in non-Ashkenazim. In the US population in general, it is estimated that between 1 out of 345 and 1 out of 1000 individuals carries a BRCA mutation, compared with approximately 1 in 40 individuals of Ashkenazi Jewish descent. The ovarian cancer risk up to age 70 associated with BRCA mutation carriers has been reported to be as high as 66% for BRCA1 and 27% for BRCA2 mutation carriers. Ovarian cancer in Ashkenazi kindreds has served as a model for the study of the histopathology of inherited ovarian cancers as well as for the study of risk reduction and screening among all women at inherited risk of ovarian cancer.
journal_name
Fam Cancerjournal_title
Familial cancerauthors
Robles-Díaz L,Goldfrank DJ,Kauff ND,Robson M,Offit Kdoi
10.1007/s10689-004-9552-0keywords:
subject
Has Abstractpub_date
2004-01-01 00:00:00pages
259-64issue
3-4eissn
1389-9600issn
1573-7292pii
5379552journal_volume
3pub_type
杂志文章,评审相关文献
Familial Cancer文献大全abstract：:Genetic services are receiving increasing numbers of referrals of people with a family history of cancer for assessment of genetic risk, and therefore need to find cost-effective ways of meeting this rising demand. General Practitioners (GPs) are known to be reluctant to take on genetic consultations. Current evidence...
journal_title：Familial cancer
pub_type： 杂志文章
doi：10.1007/s10689-007-9128-x
更新日期：2007-01-01 00:00:00
abstract：:Description of the various modalities of breast and ovarian cancer risk management, patient choices and their outcome in a single-center cohort of 158 unaffected women carrying a BRCA1 or BRCA2 germline mutation. Between 1998 and 2009, 158 unaffected women carrying a BRCA1 or BRCA2 gene mutation were prospectively fol...
journal_title：Familial cancer
pub_type： 临床试验,杂志文章
doi：10.1007/s10689-012-9539-1
更新日期：2012-09-01 00:00:00
abstract：:While a dominant inheritance of breast cancer (vertical inheritance) is well known, less is known about a possible recessive inheritance (horizontal inheritance). In a clinical series of 1676 breast cancer patient's family history was scored as vertical (grandmother-aunt-mother-sister-daughter) or horizontal (sister-s...
journal_title：Familial cancer
pub_type： 杂志文章
doi：10.1007/s10689-010-9355-4
更新日期：2010-12-01 00:00:00
abstract：:De novo mutations in the adenomatous polyposis coli (APC) gene are estimated to constitute approximately 25% of familial adenomatous polyposis (FAP) cases. A small percentage of these arise in the mosaic form, affecting only a subset of cells in the affected individual. A family is described here whereby an unaffected...
journal_title：Familial cancer
pub_type： 杂志文章
doi：10.1007/s10689-007-9169-1
更新日期：2008-01-01 00:00:00
abstract：:The data from the Indian subcontinent on Medullary thyroid carcinoma (MTC) and associated endocrinopathies in hereditary MTC (HMTC) syndromes are limited. Hence, we analyzed clinical and biochemical characteristics, management, and outcomes of HMTC and other associated endocrinopathies [Pheochromocytoma (PCC) and Prim...
journal_title：Familial cancer
pub_type： 杂志文章
doi：10.1007/s10689-020-00219-9
更新日期：2021-01-04 00:00:00
abstract：:Increased insight into the information needs of people about cancer genetic predisposition could allow materials to be developed to improve decision-making for those at high risk, whilst those at lower risk could have their anxiety reduced without the need for referral to genetics services. This study aimed to identif...
journal_title：Familial cancer
pub_type： 杂志文章
doi：10.1007/s10689-009-9256-6
更新日期：2009-01-01 00:00:00
abstract：:Comprehensive genomic cancer risk assessment (GCRA) helps patients, family members, and providers make informed choices about cancer screening, surgical and chemotherapeutic risk reduction, and genetically targeted cancer therapies. The increasing availability of multigene panel tests for clinical applications allows ...
journal_title：Familial cancer
pub_type： 杂志文章
doi：10.1007/s10689-018-0070-x
更新日期：2018-10-01 00:00:00
abstract：:Germline mutations in the BRCA1 tumor suppressor gene predispose affected individuals to breast cancer; however, incomplete cancer penetrance and the presence of phenocopies in BRCA1 families also indicate genetic and environmental modifiers of breast cancer risk. In this study, we have tested the single nucleotide po...
journal_title：Familial cancer
pub_type： 杂志文章
doi：10.1007/s10689-013-9647-6
更新日期：2013-12-01 00:00:00
abstract：:In rare cases the diagnosis of Familial Adenomatous Polyposis (FAP) may not be simple or straightforward. We describe the case of a 54-year man in whom endoscopic and histological features of FAP led to proctocolectomy with ileoanal anastomosis. At anatomical examination, air-filled cystic formations in the submucosa ...
journal_title：Familial cancer
pub_type： 杂志文章
doi：10.1007/s10689-012-9587-6
更新日期：2013-09-01 00:00:00
abstract：:While familial adenomatous polyposis accounts for approximately 1% of all colorectal cancer, the genetic cause underlying the development of multiple colonic adenomas remains unsolved in many patients. Adenomatous polyposis syndromes can be divided into: familial adenomatous polyposis, MUTYH-associated polyposis, poly...
journal_title：Familial cancer
pub_type： 杂志文章
doi：10.1007/s10689-018-0107-1
更新日期：2019-04-01 00:00:00
abstract：:To evaluate perceived pain during repetitive annual endometrial sampling at gynaecologic surveillance in asymptomatic women with Lynch syndrome (LS) over time and in addition to symptomatic women without LS, undergoing single endometrial sampling. In this prospective study, 52 women with LS or first degree relatives w...
journal_title：Familial cancer
pub_type： 杂志文章
doi：10.1007/s10689-016-9937-x
更新日期：2017-04-01 00:00:00
abstract：OBJECTIVE:To determine the value of histology in identifying Lynch syndrome among those patients with early onset of colorectal cancer (CRC). METHODS:Demographic, clinical and cancer history data from patients diagnosed with CRC before 60 years of age, and treated at our institution between 1997 and 2005, were collect...
journal_title：Familial cancer
pub_type： 杂志文章
doi：10.1007/s10689-008-9186-8
更新日期：2008-01-01 00:00:00
abstract：:Familial Adenomatous Polyposis (FAP) is a model for the adenoma-carcinoma sequence in several respects. One important area in which FAP serves as a model is chemoprevention. Early prevention trials mainly utilized micronutrients and were largely unsuccessful in preventing or causing regression of adenomas. A new era w...
journal_title：Familial cancer
pub_type： 杂志文章
doi：10.1007/s10689-007-9158-4
更新日期：2008-01-01 00:00:00
abstract：:Small cell carcinoma of the ovary, hypercalcemic type, (SCCOHT) is the most common undifferentiated ovarian cancer in women aged under 40 years. SCCOHT is a monogenic disease, characterized by germline and somatic SMARCA4 mutations. Recent studies have stressed its morphological and clinical similarity to malignant rh...
journal_title：Familial cancer
pub_type： 杂志文章
doi：10.1007/s10689-016-9957-6
更新日期：2017-07-01 00:00:00
abstract：:Nijmegen breakage syndrome is an autosomal recessive disorder caused by biallelic mutation in NBN gene. It is characterized by microcephaly, growth retardation, immuno-deficiency and cancer predisposition. The monoallelic carriers of NBN gene are also reported to be at increased risk of developing various types of mal...
journal_title：Familial cancer
pub_type： 杂志文章
doi：10.1007/s10689-016-9954-9
更新日期：2017-07-01 00:00:00
abstract：:To support persons having a genetic predisposition to cancer and their partners during reproductive decision-making, an online decision aid was developed and evaluated. To maximize the impact of the support tool, this mixed methods study aims at developing the optimal implementation strategy for the decision aid. A qu...
journal_title：Familial cancer
pub_type： 杂志文章
doi：10.1007/s10689-019-00119-7
更新日期：2019-04-01 00:00:00
abstract：:In this study we aim to determine the prevalence of the recently identified pathogenic BRCA1 variant c.-107A > T in the south-east German population. This variant causes the epigenetic silencing of the BRCA1 promotor and has been detected in two independent families from the UK without a germline BRCA1 or BRCA2 pathog...
journal_title：Familial cancer
pub_type： 杂志文章
doi：10.1007/s10689-020-00175-4
更新日期：2020-07-01 00:00:00
abstract：:This multicenter study examined the adherence of high-risk women to screening recommendations for breast and ovarian cancer following consultation at a familial cancer clinic (FCC). Self-report questionnaires assessing recall of screening advice, tests undertaken, risk perception, anxiety (Impact of Events Scale) and ...
journal_title：Familial cancer
pub_type： 杂志文章,多中心研究
doi：10.1007/s10689-006-0006-8
更新日期：2006-01-01 00:00:00
abstract：INTRODUCTION:Prospective collection of epidemiological, psychosocial and outcome data in large breast cancer family cohorts should provide less biased data than retrospective studies regarding penetrance of breast cancer and modifiers of genetic risk. METHODS:The Kathleen Cuningham Foundation for Research into Breast ...
journal_title：Familial cancer
pub_type： 杂志文章
doi：10.1007/s10689-004-6129-x
更新日期：2005-01-01 00:00:00
abstract：:Nogo proteins play an important role in the apoptosis of cells, especially in tumor cells. The present study was conducted to evaluate whether the TATC (rs71682980) and CAA (rs34917480) insertion/deletion polymorphisms of RTN4 3'-UTR are associated with clear cell renal cell carcinoma (ccRCC). These two polymorphisms ...
journal_title：Familial cancer
pub_type： 杂志文章
doi：10.1007/s10689-017-0005-y
更新日期：2018-01-01 00:00:00
abstract：:Genomic rearrangement occasionally affects the BRCA1/2 genes in Caucasian breast cancer patients. However, the incidence of BRCA1/2 genomic rearrangement in Asians, including the Korean population, has not been well established. Here, we investigated the contribution of BRCA1/2 genomic rearrangement to high-risk breas...
journal_title：Familial cancer
pub_type： 杂志文章
doi：10.1007/s10689-009-9279-z
更新日期：2009-01-01 00:00:00
abstract：:Familial adenomatous polyposis (FAP) provides a model for sporadic colorectal cancer development. Cyclooxygenase (COX) inhibition may ameliorate polyp development, but rofecoxib was withdrawn due to cardiovascular side effects. Although this selective COX-2 inhibitor, like diet, may alter the fatty acid and eicosanoid...
journal_title：Familial cancer
pub_type： 杂志文章,随机对照试验
doi：10.1007/s10689-010-9365-2
更新日期：2010-12-01 00:00:00
abstract：:Microsatellite instability (MSI) testing is useful for identifying patients with hereditary nonpolyposis colorectal cancer and detecting sporadic colorectal cancer that develops through replication error pathways. A pentaplex panel is recommended by the National Cancer Institute for MSI testing, but simplified mononuc...
journal_title：Familial cancer
pub_type： 杂志文章
doi：10.1007/s10689-012-9536-4
更新日期：2012-09-01 00:00:00
abstract：:Medulloblastoma tumours may arise sporadically or as part of an inherited syndrome. A subset of children with medulloblastoma carry germline and somatic mutations in the SUFU tumour suppressor gene located at 10q24. We report a 55 year old woman referred for investigation on the basis of skin lesions and a family hist...
journal_title：Familial cancer
pub_type： 杂志文章
doi：10.1007/s10689-014-9752-1
更新日期：2015-03-01 00:00:00
abstract：:First-degree relatives of women with breast cancer may experience increased worry or perceived risk when faced with reminders of their own cancer risk. Worry and risk reminders may include physical symptoms (e.g., persistent breast pain) and caregiving experiences. Women who engage in pain catastrophizing may be parti...
journal_title：Familial cancer
pub_type： 杂志文章
doi：10.1007/s10689-018-0082-6
更新日期：2019-01-01 00:00:00
abstract：:Identifying a BRCA mutation among families with hereditary breast and ovarian cancer enables distinguishing those who may benefit from a specific medical management. This study aimed to evaluate the uptake of predictive testing among close relatives of a proband in Spanish families with a BRCA1 or BRCA2 mutation, and ...
journal_title：Familial cancer
pub_type： 杂志文章,多中心研究
doi：10.1007/s10689-009-9313-1
更新日期：2010-09-01 00:00:00
abstract：:Approximately 39.6% of people will be diagnosed with cancer during their lifetime. Several factors including, lifestyle, environment and genetics may play a role in its development. Understanding these causes will greatly improve treatment methods, prevention, and survival rates of these patients. Our patient, who has...
journal_title：Familial cancer
pub_type： 杂志文章
doi：10.1007/s10689-017-9982-0
更新日期：2017-10-01 00:00:00
abstract：:Lynch syndrome is the most frequent hereditary colorectal cancer (CRC) syndrome, affecting approximately 1 in 300 in the Western population. It is caused by pathogenic variants in the mismatch repair (MMR) genes including MLH1, MSH2 (EPCAM), MSH6 and PMS2, and is associated with high risks of CRC, endometrial cancer a...
journal_title：Familial cancer
pub_type： 杂志文章,评审
doi：10.1007/s10689-020-00225-x
更新日期：2021-01-19 00:00:00
abstract：:In the absence of a polyposis phenotype, colorectal cancer (CRC) patients referred for genetic testing because of early-onset disease and/or a positive family history, typically undergo testing for molecular signs of Lynch syndrome in their tumors. In the absence of these signs, DNA testing for germline mutations asso...
journal_title：Familial cancer
pub_type： 杂志文章,评审
doi：10.1007/s10689-012-9570-2
更新日期：2013-03-01 00:00:00
abstract：:Lynch Syndrome is caused by mutations in DNA mismatch repair genes. Diagnosis is not always trivial and may be costly. Information regarding incidence, genotype-phenotype correlation, spectrum of mutations and genes involved in specific populations facilitate the diagnostic process and contribute to clinical work-up. ...
journal_title：Familial cancer
pub_type： 杂志文章
doi：10.1007/s10689-013-9675-2
更新日期：2014-03-01 00:00:00
