Abstract：
:The hereditary forms of colorectal cancer have been given many names historically as the manifestations have been gradually understood. Lynch syndrome has had several names, most prominently 'Hereditary Nonpolyposis Colorectal Cancer' or HNPCC. Clarification of the genetic basis and full phenotypic expression of this disease mandates a more clinically useful name that clarifies the consideration of non-colonic cancers in a family history, and unifies the diagnosis around the germline mutation in a DNA mismatch repair (MMR) gene. The term 'Lynch syndrome' is proposed for the autosomal dominant disease caused by a germline mutation in a DNA MMR gene.
journal_name
Fam Cancerjournal_title
Familial cancerauthors
Boland CRdoi
10.1007/s10689-004-4489-xkeywords:
subject
Has Abstractpub_date
2005-01-01 00:00:00pages
211-8issue
3eissn
1389-9600issn
1573-7292journal_volume
4pub_type
杂志文章,评审相关文献
Familial Cancer文献大全abstract：:Neurofibromatosis type 2 (NF2) is associated with the development of several types of benign nervous system tumours, while malignancies are rare. We report a 22-year-old man who presented with retroperitoneal and spinal high-grade sarcomas with epithelial features. Samples showed a mixed epithelioid and spindled cell ...
journal_title：Familial cancer
pub_type： 杂志文章,评审
doi：10.1007/s10689-018-0084-4
更新日期：2019-01-01 00:00:00
abstract：:Knowledge about interest in genetic testing and willingness-to-pay for a genetic test among men affected from prostate cancer (PCa) is limited. This study aimed to gain insight into men's attitudes in genetic testing for PCa. 4699 men with PCa from the German multicenter prospective database "Familial Prostate Cancer"...
journal_title：Familial cancer
pub_type： 杂志文章
doi：10.1007/s10689-018-0101-7
更新日期：2019-04-01 00:00:00
abstract：:New Zealand Māori have a considerably higher incidence of gastric cancer compared to non-Māori, and are one of the few populations worldwide with a higher prevalence of diffuse-type disease. Pathogenic germline CDH1 mutations are causative of hereditary diffuse gastric cancer, a cancer predisposition syndrome primaril...
journal_title：Familial cancer
pub_type： 杂志文章
doi：10.1007/s10689-018-0080-8
更新日期：2019-01-01 00:00:00
abstract：:Hereditary diffuse gastric cancer (HDGC) is an autosomal-dominantly inherited cancer syndrome associated with a high risk for diffuse gastric and lobular breast cancer, caused by heterozygous CDH1 germline mutations. Of note, also cleft lip/palate (CLP) has been described in few HDGC families. Here we report on an ext...
journal_title：Familial cancer
pub_type： 杂志文章,评审
doi：10.1007/s10689-018-0111-5
更新日期：2019-04-01 00:00:00
abstract：BACKGROUND:Colorectal cancers resulting from defective DNA mismatch repair can occur in both hereditary non-polyposis colon cancer (HNPCC) and in the sporadic setting. They are characterised by a high level of microsatellite instability (MSI-H) and superficially resemble each other in that they are frequently located i...
journal_title：Familial cancer
pub_type： 杂志文章
doi：10.1023/B:FAME.0000039861.30651.c8
更新日期：2004-01-01 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：:Dominantly inherited syndromes of colorectal cancer predisposition are characterized by multifocal neoplasia with an early age of onset. The risk of colorectal cancer is high in affected patients and care of the patients is based on the aims of cancer prevention and cancer cure. At the same time, quality of life shoul...
journal_title：Familial cancer
pub_type： 杂志文章
doi：10.1007/s10689-016-9886-4
更新日期：2016-07-01 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：:Women with germline mutations in BRCA1 and BRCA2 genes have significantly increased lifetime risks of breast and ovarian cancer. To manage both the ovarian and breast cancer risks the current recommendation is undergo a risk reducing salpingo-oophorectomy (RRSO) prior to natural menopause. To date, studies have focuss...
journal_title：Familial cancer
pub_type： 杂志文章
doi：10.1007/s10689-012-9527-5
更新日期：2012-09-01 00:00:00
abstract：:One of a pair of monozygous twins was diagnosed and died of small cell carcinoma of the ovary of hypercalcemic type (SCCOHT) at the age of 30 years. Her sister remained unaffected and was very concerned about her risk for developing SCCOHT. By performing comprehensive molecular analysis using whole exome sequencing (W...
journal_title：Familial cancer
pub_type： 信件
doi：10.1007/s10689-018-0108-0
更新日期：2019-04-01 00:00:00
abstract：:A new BRCA1 locus product called BRCA1-IRIS has been identified recently. High-risk breast/ovarian families have not been screened for germ-line mutations at the specific BRCA1-IRIS coding sequence, as it was considered merely as part of BRCA1 intron 11. Here we report the first comprehensive screening of germ-line mu...
journal_title：Familial cancer
pub_type： 杂志文章
doi：10.1007/s10689-005-1236-x
更新日期：2005-01-01 00:00:00
abstract：:Treatment of nasopharyngeal carcinoma (NPC) can be improved by early detection of the disease as treatment outcome worsens with disease's progression. This can be achieved with a mass screening program using Epstein Barr virus (EBV) serology and nasopharyngoscopy. The efficacy of any screening strategy should be evalu...
journal_title：Familial cancer
pub_type： 杂志文章
doi：10.1007/s10689-010-9397-7
更新日期：2011-03-01 00:00:00
abstract：:Distress levels among female BRCA1/2 mutation carriers can be similar to levels found among breast cancer patients. While psychological distress has been associated with unmet needs among cancer patients no study has examined this among BRCA1/2 mutation carriers. The objectives of this study were to: (1) describe the ...
journal_title：Familial cancer
pub_type： 杂志文章
doi：10.1007/s10689-012-9596-5
更新日期：2013-09-01 00:00:00
abstract：:Germline p53 mutations are associated with Li-Fraumeni syndrome (LFS) and other familial cancer phenotypes not fulfilling the definition for LFS. The majority of germline p53 mutations cluster in exons 5-8, corresponding to a DNA binding domain. We report the identification of two germline mutations and a somatic muta...
journal_title：Familial cancer
pub_type： 杂志文章
doi：10.1007/s10689-009-9284-2
更新日期：2009-01-01 00:00:00
abstract：:Germline CDH1 mutation carriers are at risk for early-onset diffuse gastric cancer (DGC) and female carriers have an additional risk of lobular breast cancer. The reported literature GC risk of 70% has led to the recommendation for germline mutation carriers to undergo prophylactic total gastrectomy (PTG). The objecti...
journal_title：Familial cancer
pub_type： 杂志文章,多中心研究
doi：10.1007/s10689-019-00133-9
更新日期：2019-10-01 00:00:00
abstract：:African-American women are more likely to develop aggressive breast cancer at younger ages and experience poorer cancer prognoses than non-Hispanic Caucasians. Deficiency in repair of DNA by homologous recombination (HR) is associated with cancer development, suggesting that mutations in genes that affect this process...
journal_title：Familial cancer
pub_type： 杂志文章
doi：10.1007/s10689-017-0036-4
更新日期：2018-04-01 00:00:00
abstract：:Hereditary diffuse gastric cancer has an early onset and poor prognosis, therefore, individuals who carry a pathogenic (CDH1) mutation in the E-cadherin gene (CDH1) are offered endoscopic surveillance and advised to undergo prophylactic total gastrectomy (PTG) in their early to mid-twenties. Patients not ready or fit ...
journal_title：Familial cancer
pub_type： 杂志文章
doi：10.1007/s10689-016-9910-8
更新日期：2016-10-01 00:00:00
abstract：:Juvenile nasopharyngeal angiofibromas (JNAs) are rare tumors with prominent vascularity and locally destructive growth. The pathogenesis of JNA is largely unknown. A causal association between JNA and familial adenomatous polyposis has been suggested. Twenty-one patients diagnosed with juvenile angiofibroma filled out...
journal_title：Familial cancer
pub_type： 杂志文章
doi：10.1007/s10689-010-9331-z
更新日期：2010-09-01 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：: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：:Peutz-Jeghers syndrome (PJS) is a hereditary polyposis syndrome characterized by hamartomatous Peutz-Jeghers polyps in the gastrointestinal tract, mucocutaneous pigmentations, and increased risk for intestinal and extraintestinal cancer. In more than two-third of patients it is possible to detect pathogenic variants i...
journal_title：Familial cancer
pub_type： 杂志文章
doi：10.1007/s10689-020-00191-4
更新日期：2020-06-06 00:00:00
abstract：:PTCH1 and SUFU are both regulators of the sonic hedgehog signalling pathway. Germline inactivating mutations in both genes are associated with multisystem phenotypes including medulloblastoma. Somatic inactivating mutations in PTCH1 and SUFU each occur in approximately 10% of medulloblastomas. Recently, SUFU mutations...
journal_title：Familial cancer
pub_type： 杂志文章
doi：10.1007/s10689-010-9411-0
更新日期：2011-06-01 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：AIM:This study aimed to analyze whether the occurrence of both breast and ovarian cancer in a woman serves as a marker for BRCA gene mutations. MATERIAL AND METHODS:This population-based study included 256 women in western Sweden who developed both invasive breast and ovarian tumors between 1958 and 1999. Archival par...
journal_title：Familial cancer
pub_type： 杂志文章
doi：10.1007/s10689-006-9101-0
更新日期：2007-01-01 00:00:00
abstract：:This study was aimed to characterize the distribution of colorectal cancer risk using family history of cancers by data mining. Family histories for 10,066 colorectal cancer cases recruited to population cancer registries of the Colon Cancer Family Registry were analyzed using a data mining framework. A novel index wa...
journal_title：Familial cancer
pub_type： 杂志文章
doi：10.1007/s10689-015-9860-6
更新日期：2016-04-01 00:00:00
abstract：:Germline variants in the APC and MUTYH genes contribute to colorectal cancer (CRC) and adenoma risk, though may occur with varying frequencies in individuals of different ancestries. The aim of this study was to evaluate the prevalence of APC, monoallelic MUTYH and biallelic MUTYH germline variants in Ashkenazi Jewish...
journal_title：Familial cancer
pub_type： 杂志文章
doi：10.1007/s10689-020-00198-x
更新日期：2020-08-03 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：: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：: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：:Since restorative proctocolectomy (RPC) with ileal-pouch anal anastomosis (IPAA) removes the entire diseased mucosa, it has become firmly established as the standard operative procedure of choice for familial adenomatous polyposis (FAP). Many technical controversies still persist, such as mesenteric lengthening techni...
journal_title：Familial cancer
pub_type： 杂志文章,评审
doi：10.1007/s10689-005-5672-4
更新日期：2006-01-01 00:00:00
