当前位置： SCI文献检索 > Familial Cancer期刊下所有文献 > Analysis of BRCA1/BRCA2 genes' contribution to breast cancer susceptibility in high risk Jewish Ashkenazi women.

Analysis of BRCA1/BRCA2 genes' contribution to breast cancer susceptibility in high risk Jewish Ashkenazi women.

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 rearrangements and seemingly pathogenic missense mutations to inherited breast cancer predisposition has never been systematically evaluated in Ashkenazim. MATERIAL AND METHODS:High risk, Jewish Ashkenazi women, non-carriers of the predominant Jewish BRCA1/BRCA2 mutations, were genotyped for major gene rearrangements in BRCA1/BRCA2 using Multiplex ligation-dependent probe amplification (MLPA), and for the occurrence rate of 6 seemingly pathogenic missense mutations in BRCA1 (R866C, R331S, R841W, Y179C, C61G, M1008I) using a modified restriction enzyme assay. RESULTS:Overall, 105 Jewish Ashkenazi high risk women, participated in the study: 104 with breast cancer [age at diagnosis (mean +/- SD) 51.05 +/- 11.13 years], one was affected with ovarian cancer (61 years). Two were found to carry the M1008I mutation in BRCA1 and none harbored any of the other missense mutations. MLPA reveled four changes (amplifications of exons 5, 17, 19 and 21) in BRCA1 in five patients, and six patients exhibited 4 MLPA-detectable abnormalities in BRCA2 (amplifications in exons 1b, 2, and deletions in exons 11a and 25). None of these abnormalities could be confirmed using quantitative PCR (qPCR) analysis. CONCLUSIONS:Major gene rearrangements involving BRCA1 BRCA2 contribute little to the burden of inherited predisposition of breast cancer in Ashkenazi Jews.

journal_name

Fam Cancer

journal_title

Familial cancer

authors

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

doi

10.1007/s10689-008-9216-6

subject

Has Abstract

pub_date

2009-01-01 00:00:00

pages

127-33

issue

2

eissn

1389-9600

issn

1573-7292

journal_volume

8

pub_type

杂志文章

相关文献

Familial Cancer文献大全
  • Identification of a rare germline NBN gene mutation by whole exome sequencing in a lung-cancer survivor from a large family with various types of cancer.

    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

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

    更新日期：2017-07-01 00:00:00

  • Primary care providers' willingness to recommend BRCA1/2 testing to adolescents.

    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

    pub_type： 杂志文章

    doi：10.1007/s10689-009-9243-y

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

    更新日期：2010-03-01 00:00:00

  • Sporadic endometrial adenocarcinoma with MMR deficiency due to biallelic MSH2 somatic mutations.

    abstract：:The invalidation of the Mismatch Repair (MMR) system is responsible for a so-called "deficient MMR" phenotype (dMMR) characterized by microsatellite instability and abnormal pattern of expression of MMR proteins in tumor tissue. This phenotype occurs in at least 20% of sporadic endometrial adenocarcinomas by epigeneti...

    journal_title：Familial cancer

    pub_type： 杂志文章

    doi：10.1007/s10689-017-0032-8

    authors： Buecher B,De Pauw A,Bazire L,Houdayer C,Fievet A,Moncoutier V,Farkhondeh F,Melaabi S,Lyonnet DS,Golmard L

    更新日期：2018-04-01 00:00:00

  • Familial melanoma: a complex disorder leading to controversy on DNA testing.

    abstract：:The initial enthusiasm generated by the discovery of the first susceptibility gene found for melanoma has slightly dampened over recent years. For the majority of melanoma families the underlying gene defect is still not known, so the search for other melanoma genes is continuing. Also, the increased risk of melanoma ...

    journal_title：Familial cancer

    pub_type： 杂志文章,评审

    doi：10.1023/a:1025758527675

    authors： de Snoo FA,Bergman W,Gruis NA

    更新日期：2003-01-01 00:00:00

  • Predictors of participation in clinical and psychosocial follow-up of the kConFab breast cancer family cohort.

    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

    authors： Phillips KA,Butow PN,Stewart AE,Chang JH,Weideman PC,Price MA,McLachlan SA,Lindeman GJ,McKay MJ,Friedlander ML,Hopper JL,kConFab Investigators.

    更新日期：2005-01-01 00:00:00

  • Improving primary care identification of familial breast cancer risk using proactive invitation and decision support.

    abstract：:Family history of breast cancer is a key risk factor, accounting for up to 10% of cancers. We evaluated the proactive assessment of familial breast cancer (FBC) risk in primary care. Eligible women (30 to 60 years) were recruited from eight English general practices. Practices were trained on FBC risk assessment. In f...

    journal_title：Familial cancer

    pub_type： 杂志文章

    doi：10.1007/s10689-020-00188-z

    authors： Qureshi N,Dutton B,Weng S,Sheehan C,Chorley W,Robertson JFR,Kendrick D,Kai J

    更新日期：2020-06-11 00:00:00

  • Tumor histology helps to identify Lynch syndrome among colorectal cancer patients.

    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

    authors： Truta B,Chen YY,Blanco AM,Deng G,Conrad PG,Kim YH,Park ET,Kakar S,Kim YS,Velayos F,Sleisenger MH,Terdiman JP

    更新日期：2008-01-01 00:00:00

  • Breast and ovarian cancer risk management in a French cohort of 158 women carrying a BRCA1 or BRCA2 germline mutation: patient choices and outcome.

    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

    authors： This P,de la Rochefordière A,Savignoni A,Falcou MC,Tardivon A,Thibault F,Alran S,Fourchotte V,Fitoussi A,Couturaud B,Dolbeault S,Salmon RJ,Sigal-Zafrani B,Asselain B,Stoppa-Lyonnet D,Institut Curie Breast and Ovarian Cancer

    更新日期：2012-09-01 00:00:00

  • Hereditary medullary thyroid carcinoma syndromes: experience from western India.

    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

    authors： Diwaker C,Sarathi V,Jaiswal SK,Shah R,Deshmukh A,Thomas AE,Prakash G,Malhotra G,Patil V,Lila A,Shah N,Bandgar T

    更新日期：2021-01-04 00:00:00

  • Response to neo-adjuvant chemotherapy in BRCA1 and BRCA2 related stage III breast cancer.

    abstract：:Pathological features and consequently, tumor response differ between BRCA1/2 carriers and sporadic breast cancer (BC) cases. It is expected that BRCA1/2 associated tumors will be more vulnerable to DNA damaging agents and irradiation due to their function in DNA repair. In addition, very high pathological complete re...

    journal_title：Familial cancer

    pub_type： 杂志文章

    doi：10.1007/s10689-008-9223-7

    authors： Hubert A,Mali B,Hamburger T,Rottenberg Y,Uziely B,Peretz T,Kadouri L

    更新日期：2009-01-01 00:00:00

  • Evaluating Lynch syndrome in very early onset colorectal cancer probands without apparent polyposis.

    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

    pub_type： 杂志文章

    doi：10.1007/s10689-009-9290-4

    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

  • Acinic cell carcinoma of the retromolar trigone region: expanding the tumor phenotype in Cowden syndrome?

    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

    pub_type： 杂志文章

    doi：10.1007/s10689-011-9472-8

    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

  • Pain evaluation during gynaecological surveillance in women with Lynch syndrome.

    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

    authors： Helder-Woolderink J,de Bock G,Hollema H,van Oven M,Mourits M

    更新日期：2017-04-01 00:00:00

  • Juvenile nasopharyngeal angiofibroma: no evidence for inheritance or association with familial adenomatous polyposis.

    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

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

    更新日期：2010-09-01 00:00:00

  • Hepatoblastoma in two siblings and familial adenomatous polyposis: causal nexus or coincidence?

    abstract：:Infantile and childhood hepatoblastoma (HB) occurs more frequently in children with hereditary predisposition to familial adenomatous polyposis (FAP) than in the general population. The occurrence of HB in two infant siblings is reported. The sister died of the disease. The brother survived the HB and was later diagno...

    journal_title：Familial cancer

    pub_type： 杂志文章

    doi：10.1007/s10689-012-9538-2

    authors： Evers C,Gaspar H,Kloor M,Bozukova G,Kadmon M,Keller M,Sutter C,Moog U

    更新日期：2012-09-01 00:00:00

  • Discovery of mutations in homologous recombination genes in African-American women with breast cancer.

    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

    authors： Ding YC,Adamson AW,Steele L,Bailis AM,John EM,Tomlinson G,Neuhausen SL

    更新日期：2018-04-01 00:00:00

  • The InSiGHT database: utilizing 100 years of insights into Lynch syndrome.

    abstract：:This article provides a historical overview of the online database ( www.insight-group.org/mutations ) maintained by the International Society for Gastrointestinal Hereditary Tumours. The focus is on the mismatch repair genes which are mutated in Lynch Syndrome. APC, MUTYH and other genes are also an important part of...

    journal_title：Familial cancer

    pub_type： 历史文章,杂志文章

    doi：10.1007/s10689-013-9616-0

    authors： Plazzer JP,Sijmons RH,Woods MO,Peltomäki P,Thompson B,Den Dunnen JT,Macrae F

    更新日期：2013-06-01 00:00:00

  • Selective COX-2 inhibition affects fatty acids, but not COX mRNA expression in patients with FAP.

    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

    authors： Almendingen K,Larsen LN,Fausa O,Bratlie J,Høstmark AT,Aabakken L

    更新日期：2010-12-01 00:00:00

  • Sarcoma in neurofibromatosis 2: case report and review of the literature.

    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

    authors： Linder C,Smith MJ,Bulman M,Wallace A,Freemont AJ,Mangham DC,Evans DGR

    更新日期：2019-01-01 00:00:00

  • Evolution of the nomenclature for the hereditary colorectal cancer syndromes.

    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 ...

    journal_title：Familial cancer

    pub_type： 杂志文章,评审

    doi：10.1007/s10689-004-4489-x

    authors： Boland CR

    更新日期：2005-01-01 00:00:00

  • SNP association study in PMS2-associated Lynch syndrome.

    abstract：:Lynch syndrome (LS) patients are at high risk of developing colorectal cancer (CRC). Phenotypic variability might in part be explained by common susceptibility loci identified in Genome Wide Association Studies (GWAS). Previous studies focused mostly on MLH1, MSH2 and MSH6 carriers, with conflicting results. We aimed ...

    journal_title：Familial cancer

    pub_type： 杂志文章

    doi：10.1007/s10689-017-0061-3

    authors： Ten Broeke SW,Elsayed FA,Pagan L,Olderode-Berends MJW,Garcia EG,Gille HJP,van Hest LP,Letteboer TGW,van der Kolk LE,Mensenkamp AR,van Os TA,Spruijt L,Redeker BJW,Suerink M,Vos YJ,Wagner A,Wijnen JT,Steyerberg EW,Tops

    更新日期：2018-10-01 00:00:00

  • A case of pneumatosis cystoides intestinalis mimicking familial adenomatous polyposis.

    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

    authors： Ponz de Leon M,Bertarelli C,Casadei GP,Grilli A,Bacchini P,Pedroni M,Jovine E

    更新日期：2013-09-01 00:00:00

  • Detection of allelic imbalance in MLH1 expression by pyrosequencing serves as a tool for the identification of germline defects in Lynch syndrome.

    abstract：:Lynch syndrome is an autosomal dominant cancer susceptibility syndrome characterized by the early development of microsatellite unstable colorectal, endometrial and other cancers. Lynch syndrome is caused by germline heterozygous loss-of-function sequence mutations within the mismatch repair genes MLH1, MSH2, MSH6 or ...

    journal_title：Familial cancer

    pub_type： 杂志文章

    doi：10.1007/s10689-009-9314-0

    authors： Kwok CT,Ward RL,Hawkins NJ,Hitchins MP

    更新日期：2010-09-01 00:00:00

  • Psychological impact of genetic counseling for familial cancer: a systematic review and meta-analysis.

    abstract：BACKGROUND:Identification of a genetic basis underlying certain types of cancer has led to an increase in demand for genetic counseling about individual risks of the disease. We conducted a systematic review of the literature to determine the quality and strength of evidence relating to psychological outcomes of geneti...

    journal_title：Familial cancer

    pub_type： 杂志文章,meta分析,评审

    doi：10.1007/s10689-005-2577-1

    authors： Braithwaite D,Emery J,Walter F,Prevost AT,Sutton S

    更新日期：2006-01-01 00:00:00

  • Mutations of the SDHB and SDHD genes.

    abstract：:The succinate dehydrogenase (SDH) is a mitochondrial enzyme complex with an important role in oxydative phosphorylation and intracellular oxygene sensing and signaling. Mutations in the SDHB (1p35-36) and SDHD subunits (11q23) give rise to the paraganglioma syndromes (PGL), namely PGL 4 and PGL 1, and generate paragan...

    journal_title：Familial cancer

    pub_type： 杂志文章,评审

    doi：10.1007/s10689-004-4227-4

    authors： Pawlu C,Bausch B,Neumann HP

    更新日期：2005-01-01 00:00:00

  • Chemoprevention of familial adenomatous polyposis.

    abstract：:Familial adenomatous polyposis (FAP) has always been first and foremost a surgical disease, whose treatment with colectomy has long been known to reduce risk of premature cancer death. The notion of reducing polyp burden and potentially delaying surgical intervention has spawned a host of "chemoprevention" trials. In ...

    journal_title：Familial cancer

    pub_type： 杂志文章,评审

    doi：10.1007/s10689-016-9901-9

    authors： Lynch PM

    更新日期：2016-07-01 00:00:00

  • Association between miR-146a rs2910164 polymorphism and specific cancer susceptibility: an updated meta-analysis.

    abstract：:The rapidly increasing of cancer risk nationwide and worldwide has threatened human health and caused the changes of disease and death spectrum. MicroRNA (MiRNA) as cancer biomarker on susceptibility has enjoyed a high level of concern. This article will discuss the association between miR-146 rs2910164 polymorphism a...

    journal_title：Familial cancer

    pub_type： 杂志文章,meta分析,评审

    doi：10.1007/s10689-017-0056-0

    authors： Hao X,Xia L,Qu R,Yang X,Jiang M,Zhou B

    更新日期：2018-07-01 00:00:00

  • Cleft lip/palate and hereditary diffuse gastric cancer: report of a family harboring a CDH1 c.687 + 1G > A germline mutation and review of the literature.

    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

    authors： Obermair F,Rammer M,Burghofer J,Malli T,Schossig A,Wimmer K,Kranewitter W,Mayrbaeurl B,Duba HC,Webersinke G

    更新日期：2019-04-01 00:00:00

  • Ovarian small cell carcinoma in one of a pair of monozygous twins.

    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

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

    更新日期：2019-04-01 00:00:00

  • Interest in, willingness-to-pay for and willingness-to-recommend genetic testing for prostate cancer among affected men after radical prostatectomy.

    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

    authors： Mayer M,Selig K,Tüttelmann F,Dinkel A,Gschwend JE,Herkommer K

    更新日期：2019-04-01 00:00:00