Hereditary cancer registries improve the care of patients with a genetic predisposition to cancer: contributions from the Dutch Lynch syndrome registry.

abstract：:Germline mutations in the CDKN2A gene are associated with an increased risk of malignant melanoma and pancreatic cancer. In order to find out if the behavior pattern in families with a CDKN2A mutation is similar to what we previously have described in families with a BRCA1 mutation, we have studied the uptake of genet...

journal_title：Familial cancer

authors： Levin T,Mæhle L

更新日期：2017-04-01 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

authors： Klockars T,Renkonen S,Leivo I,Hagström J,Mäkitie AA

更新日期：2010-09-01 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

authors： Farrelly A,White V,Meiser B,Jefford M,Young MA,Ieropoli S,Winship I,Duffy J

更新日期：2013-09-01 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

authors： Marafie MJ,Dashti M,Al-Mulla F

更新日期：2017-07-01 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

authors： West AH,Blazer KR,Stoll J,Jones M,Weipert CM,Nielsen SM,Kupfer SS,Weitzel JN,Olopade OI

更新日期：2018-10-01 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

authors： Choi CW,Lee MC,Ng WT,Law LY,Yau TK,Lee AW

更新日期：2011-03-01 00:00:00

abstract：:Biallelic pathogenic variants (PVs) in MUTYH cause MUTYH-Associated Polyposis (MAP), which displays phenotypic overlap with other hereditary colorectal cancer (CRC) syndromes including Familial Adenomatous Polyposis (FAP) and Lynch syndrome. We report the phenotypic spectrum of MAP in the context of multi-gene heredit...

journal_title：Familial cancer

authors： Sutcliffe EG,Bartenbaker Thompson A,Stettner AR,Marshall ML,Roberts ME,Susswein LR,Wang Y,Klein RT,Hruska KS,Solomon BD

更新日期：2019-04-01 00:00:00

abstract：:The base excision repair protein, MUTYH, functionally interacts with the DNA mismatch repair (MMR) system. As genetic testing moves from testing one gene at a time, to gene panel and whole exome next generation sequencing approaches, understandin g the risk associated with co-existence of germline mutations in these g...

journal_title：Familial cancer

authors： Win AK,Reece JC,Buchanan DD,Clendenning M,Young JP,Cleary SP,Kim H,Cotterchio M,Dowty JG,MacInnis RJ,Tucker KM,Winship IM,Macrae FA,Burnett T,Le Marchand L,Casey G,Haile RW,Newcomb PA,Thibodeau SN,Lindor NM,Hopper

更新日期：2015-12-01 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

authors： Chau R,Jenkins MA,Buchanan DD,Ait Ouakrim D,Giles GG,Casey G,Gallinger S,Haile RW,Le Marchand L,Newcomb PA,Lindor NM,Hopper JL,Win AK

更新日期：2016-04-01 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

authors： Ellberg C,Jönsson G,Olsson H

更新日期：2010-12-01 00:00:00

abstract：BACKGROUND:Three mutations in BRCA1 (185delAG 5382InsC) and BRCA2 (6174delT) can be detected in a substantial proportion of Jewish Ashkenazi breast/ovarian cancer families. Family-specific pathogenic mutations in both genes can be detected in up to 5% of high risk Ashkenazim. The contribution of major gene rearrangemen...

journal_title：Familial cancer

authors： Distelman-Menachem T,Shapira T,Laitman Y,Kaufman B,Barak F,Tavtigian S,Friedman E

更新日期：2009-01-01 00:00:00

abstract：:Clinical practice guidelines discourage pediatric genetic testing for BRCA1/2 mutations due to a lack of timely medical benefit and psychosocial risk. Yet, some high risk families approach primary care providers (PCPs) about testing adolescents, and little is known about PCPs attitudes regarding these requests. We ass...

journal_title：Familial cancer

authors： O'Neill SC,Peshkin BN,Luta G,Abraham A,Walker LR,Tercyak KP

更新日期：2010-03-01 00:00:00

abstract：:Individuals with a family history of colorectal cancer (CRC), have a two-to-five-fold increased lifetime risk to develop CRC. Thus, they are particularly likely to benefit from adherence to medical recommendations for CRC prevention. Despite this increased risk, previous studies have shown an underutilization of colon...

journal_title：Familial cancer

authors： Bronner K,Mesters I,Weiss-Meilnik A,Geva R,Rozner G,Strul H,Inbar M,Halpern Z,Kariv R

更新日期：2013-12-01 00:00:00

abstract：:Germ-line mutations in the tumour suppressor genes BRCA1 and BRCA2 predispose to breast and ovarian cancer. Since 1999 we have performed mutational screening of breast and/or ovarian cancer patients in East Denmark. During this period we have identified 40 novel sequence variations in BRCA1 and BRCA2 in high risk brea...

journal_title：Familial cancer

authors： Hansen TV,Jønson L,Steffensen AY,Andersen MK,Kjaergaard S,Gerdes AM,Ejlertsen B,Nielsen FC

更新日期：2011-06-01 00:00:00

abstract：:Nevoid basal cell carcinoma syndrome (NBCCS) is an autosomal dominant disorder characterized by developmental defects and tumorigenesis. The gene responsible for NBCCS is PTCH1, encoding a receptor for the secreted protein, sonic hedgehog. Recently, a Chinese family with NBCCS carrying a missense mutation in PTCH2, a ...

journal_title：Familial cancer

authors： Fujii K,Ohashi H,Suzuki M,Hatsuse H,Shiohama T,Uchikawa H,Miyashita T

更新日期：2013-12-01 00:00:00

abstract：:To characterize the frequency of germline mutations associated with Lynch syndrome and review the potential expanded differential diagnoses in very early onset colorectal cancer (CRC) cases without apparent polyposis. Retrospectively reviewed medical records of 96 probands with CRC diagnosed prior to age 36 from three...

journal_title：Familial cancer

authors： Jasperson KW,Vu TM,Schwab AL,Neklason DW,Rodriguez-Bigas MA,Burt RW,Weitzel JN

更新日期：2010-06-01 00:00:00

abstract：:MicroRNAs are a new class of non-proteincoding, small RNAs that function as tumor suppressors or oncogenes. They participate in diverse biological pathways and function as gene regulators. A G>C polymorphism (rs2910164), which is located in the sequence of miR-146a precursor, results in a change from G:U to C:U in its...

journal_title：Familial cancer

authors： Guo H,Wang K,Xiong G,Hu H,Wang D,Xu X,Guan X,Yang K,Bai Y

更新日期：2010-12-01 00:00:00

abstract：:The inclusion of polygenic risk scores in breast cancer risk prediction models provides a more personalised and accurate prediction of breast cancer risk for women with and without breast cancer, who would otherwise receive negative results from traditional testing of moderate- and high-risk genes. This study aimed to...

journal_title：Familial cancer

authors： Kaur R,Meiser B,Yanes T,Young MA,Barlow-Stewart K,Roscioli T,Smith S,James PA

更新日期：2019-04-01 00:00:00

abstract：:Cowden syndrome (CS) is a cancer predisposition syndrome caused by germline mutations in the PTEN tumor suppressor gene. It is associated with an increased risk of thyroid, breast and endometrial cancer but many manifestations can be found in the head and neck region, some of which are pathognomonic. Here we report a ...

journal_title：Familial cancer

authors： Villeneuve H,Tremblay S,Galiatsatos P,Hamel N,Guertin L,Morency R,Tischkowitz M

更新日期：2011-12-01 00:00:00

abstract：:We recently described a novel g.8097_22733del14637 deletion encompassing exons 3-5 in BRCA1 gene. This rearrangement was detected in 3 of 15 (20 %) breast and/or ovarian cancer families of Eastern Spain. This finding made us suspect that the newly identified deletion could be a founder mutation. To confirm this hypoth...

journal_title：Familial cancer

authors： Palanca S,de Juan I,Perez-Simó G,Barragán E,Chirivella I,Martínez E,Fuster O,Bolufer P

更新日期：2013-03-01 00:00:00

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...

journal_title：Familial cancer

authors： Robles-Díaz L,Goldfrank DJ,Kauff ND,Robson M,Offit K

更新日期：2004-01-01 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

authors： Vasen HFA

更新日期：2021-01-19 00:00:00

abstract：:Desmoid tumors occur with high frequency in individuals with Familial Adenomatous Polyposis (FAP). Because of this, individuals developing desmoid tumors may be referred for genetic risk assessment. Determining whether a person has a FAP-related desmoid tumor or a sporadic desmoid can be challenging. We sought to char...

journal_title：Familial cancer

authors： Fallen T,Wilson M,Morlan B,Lindor NM

更新日期：2006-01-01 00:00:00

abstract：:Assessing adherence behavior among mutation carriers to cancer risk management guidelines is important for both service improvement and cost-effectiveness analyses, but such real-world data is often lacking. The present study aims to report adherence rates among mutation carriers in a recently established cancer genet...

journal_title：Familial cancer

authors： Courtney E,Chin XW,Yuen J,Li ST,Chen Y,Allen JC Jr,Tan V,Lim GH,Ngeow J

更新日期：2018-10-01 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

authors： McGivern A,Wynter CV,Whitehall VL,Kambara T,Spring KJ,Walsh MD,Barker MA,Arnold S,Simms LA,Leggett BA,Young J,Jass JR

更新日期：2004-01-01 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

authors： Fahiminiya S,Sabbaghian N,Albrecht S,Nadaf J,Callegaro-Filho D,Foulkes WD

更新日期：2019-04-01 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

authors： Church JM

更新日期：2016-07-01 00:00:00

abstract：:Prediction models for the identification of Lynch syndrome have been developed to quantify an individual's risk of carrying a mismatch repair gene mutation and help clinicians decide for whom further risk assessment and genetic testing is necessary. There are diverse clinical settings in which a healthcare provider ha...

journal_title：Familial cancer

authors： Kastrinos F,Balmaña J,Syngal S

更新日期：2013-06-01 00:00:00

abstract：:Tylosis with esophageal cancer (TOC) is a rare familial cancer syndrome inherited in an autosomal-dominant manner and characterized by esophageal cancer susceptibility and hyperkeratotic skin lesions. Two heterozygous missense mutations in the RHBDF2 gene were recently reported to be associated with TOC in three famil...

journal_title：Familial cancer

authors： Saarinen S,Vahteristo P,Lehtonen R,Aittomäki K,Launonen V,Kiviluoto T,Aaltonen LA

更新日期：2012-09-01 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

authors： Metcalfe A,Werrett J,Burgess L,Chapman C,Clifford C

更新日期：2009-01-01 00:00:00