当前位置： SCI文献检索 > BMC Medical Genetics期刊下所有文献 > Contribution of the PALB2 c.2323C>T [p.Q775X] founder mutation in well-defined breast and/or ovarian cancer families and unselected ovarian cancer cases of French Canadian descent.

Contribution of the PALB2 c.2323C>T [p.Q775X] founder mutation in well-defined breast and/or ovarian cancer families and unselected ovarian cancer cases of French Canadian descent.

Abstract：

BACKGROUND:The PALB2 c.2323C>T [p.Q775X] mutation has been reported in at least three breast cancer families and breast cancer cases of French Canadian descent and this has been attributed to common ancestors. The number of mutation-positive cases reported varied based on criteria of ascertainment of index cases tested. Although inherited PALB2 mutations are associated with increased risks of developing breast cancer, risk to ovarian cancer has not been fully explored in this demographically unique population. METHODS:We screened the PALB2 p.Q775X variant in 71 families with at least three cases of breast cancer (n=48) or breast and ovarian cancers (n=23) that have previously been found negative for at least the most common BRCA1 and BRCA2 mutations reported in the French Canadian population and in 491 women of French Canadian descent who had invasive ovarian cancer and/or low malignant potential tumors of the major histopathological subtypes. RESULTS:We identified a PALB2 p.Q775X carrier in a breast cancer family, who had invasive ductal breast carcinomas at 39 and 42 years of age. We also identified a PALB2 p.Q775X carrier who had papillary serous ovarian cystadenocarcinoma at age 58 among the 238 serous subtype ovarian cancer cases investigated, who also had breast cancer at age 52. CONCLUSION:Our findings, taken together with previous reports, support adding PALB2 c.2323C>T p.Q775X to the list of cancer susceptibility genes for which founder mutations have been identified in the French Canadian population.

journal_name

BMC Med Genet

journal_title

BMC medical genetics

authors

Tischkowitz M,Sabbaghian N,Hamel N,Pouchet C,Foulkes WD,Mes-Masson AM,Provencher DM,Tonin PN

doi

10.1186/1471-2350-14-5

subject

Has Abstract

pub_date

2013-01-09 00:00:00

pages

5

issn

1471-2350

pii

1471-2350-14-5

journal_volume

14

pub_type

杂志文章

相关文献

BMC Medical Genetics文献大全
  • Case report: two novel VPS13B mutations in a Chinese family with Cohen syndrome and hyperlinear palms.

    abstract：BACKGROUND:Cohen syndrome (CS) is an uncommon developmental disease with evident clinical heterogeneity. VPS13B is the only gene responsible for CS. Only few sporadic cases of CS have been reported in China. CASE PRESENTATION:A Chinese family with two offspring-patients affected by developmental delay and intellectual...

    journal_title：BMC medical genetics

    pub_type： 杂志文章

    doi：10.1186/s12881-019-0920-x

    authors： Zhao S,Luo Z,Xiao Z,Li L,Zhao R,Yang Y,Zhong Y

    更新日期：2019-11-21 00:00:00

  • A novel genetic variant in DNAI2 detected by custom gene panel in a newborn with Primary Ciliary Dyskinesia: case report.

    abstract：BACKGROUND:Primary ciliary dyskinesia (PCD) is a highly heterogeneous genetic disorder caused by defects in motile cilia. The hallmark features of PCD are the chronic infections of the respiratory tract, moreover, clinical manifestations include also laterality defects and risk of male infertility. Clinical phenotypes ...

    journal_title：BMC medical genetics

    pub_type： 杂志文章

    doi：10.1186/s12881-020-01160-5

    authors： Rocca MS,Piatti G,Michelucci A,Guazzo R,Bertini V,Vinanzi C,Caligo MA,Valetto A,Foresta C

    更新日期：2020-11-10 00:00:00

  • CHARGE syndrome due to deletion of region upstream of CHD7 gene START codon.

    abstract：BACKGROUND:CHARGE syndrome is an autosomal dominant disorder, characterized by ocular Coloboma, congenital Heart defects, choanal Atresia, Retardation, Genital anomalies and Ear anomalies. Over 90 % of typical CHARGE patients are mutated in the CHD7 gene, 65 %-70 % of the cases for all typical and suspected cases combi...

    journal_title：BMC medical genetics

    pub_type： 杂志文章

    doi：10.1186/s12881-015-0225-7

    authors： Pisaneschi E,Sirleto P,Lepri FR,Genovese S,Dentici ML,Petrocchi S,Angioni A,Digilio MC,Dallapiccola B

    更新日期：2015-09-03 00:00:00

  • Chromosomal abnormalities in spontaneous abortion after assisted reproductive treatment.

    abstract：BACKGROUND:We evaluated cytogenetic results occurring with first trimester pregnancy loss, and assessed the type and frequency of chromosomal abnormalities after assisted reproductive treatment (ART) and compared them with a control group. We also compared the rate of chromosomal abnormalities according to infertility ...

    journal_title：BMC medical genetics

    pub_type： 杂志文章

    doi：10.1186/1471-2350-11-153

    authors： Kim JW,Lee WS,Yoon TK,Seok HH,Cho JH,Kim YS,Lyu SW,Shim SH

    更新日期：2010-11-03 00:00:00

  • A validation of the first genome-wide association study of calcaneus ultrasound parameters in the European Male Ageing Study.

    abstract：BACKGROUND:A number of single nucleotide polymorphisms (SNPs) have been associated with broadband ultrasound attenuation (BUA) and speed of sound (SOS) as measured by quantitative ultrasound (QUS) at the calcaneus in the Framingham 100K genome-wide association study (GWAS) but have not been validated in independent stu...

    journal_title：BMC medical genetics

    pub_type： 杂志文章

    doi：10.1186/1471-2350-12-19

    authors： Roshandel D,Thomson W,Pye SR,Boonen S,Borghs H,Vanderschueren D,Huhtaniemi IT,Adams JE,Ward KA,Bartfai G,Casanueva F,Finn JD,Forti G,Giwercman A,Han TS,Kula K,Lean ME,Pendleton N,Punab M,Silman AJ,Wu FC,Holliday

    更新日期：2011-01-28 00:00:00

  • Genetic risk factors for cerebrovascular disease in children with sickle cell disease: design of a case-control association study and genomewide screen.

    abstract：BACKGROUND:The phenotypic heterogeneity of sickle cell disease is likely the result of multiple genetic factors and their interaction with the sickle mutation. High transcranial doppler (TCD) velocities define a subgroup of children with sickle cell disease who are at increased risk for developing ischemic stroke. The ...

    journal_title：BMC medical genetics

    pub_type： 杂志文章

    doi：10.1186/1471-2350-4-6

    authors： Adams GT,Snieder H,McKie VC,Clair B,Brambilla D,Adams RJ,Kutlar F,Kutlar A

    更新日期：2003-07-18 00:00:00

  • Factor-V Leiden G1691A and prothrombin G20210A polymorphisms in Sudanese women with preeclampsia, a case -control study.

    abstract：BACKGROUND:Preeclampsia can lead to adverse maternal and perinatal outcomes. There are few studies on the association of preeclampsia with thrombophilia in Africa including Sudan. METHODS:A case -controls study was conducted at Saad Abualila Hospital in Khartoum, Sudan during the period of February through November 20...

    journal_title：BMC medical genetics

    pub_type： 杂志文章

    doi：10.1186/s12881-018-0737-z

    authors： Ahmed NA,Adam I,Elzaki SEG,Awooda HA,Hamdan HZ

    更新日期：2019-01-05 00:00:00

  • Association of vitamin D receptor TaqI and ApaI genetic polymorphisms with nephrolithiasis and end stage renal disease: a meta-analysis.

    abstract：BACKGROUND:The deficiency of vitamin D receptor (VDR) or its ligand, vitamin D3, is linked to the development of renal diseases. The TaqI (rs731236) and ApaI (rs7975232) polymorphisms of VDR gene are widely studied for their association with renal disease risk. However, studies have largely been ambiguous. METHODS:Met...

    journal_title：BMC medical genetics

    pub_type： 杂志文章,meta分析

    doi：10.1186/s12881-019-0932-6

    authors： Hussain T,Naushad SM,Ahmed A,Alamery S,Mohammed AA,Abdelkader MO,Alkhrm NAN

    更新日期：2019-12-10 00:00:00

  • Neuronal migration genes and a familial translocation t (3;17): candidate genes implicated in the phenotype.

    abstract：BACKGROUND:While Miller-Dieker syndrome critical region deletions are well known delineated anomalies, submicroscopic duplications in this region have recently emerged as a new distinctive syndrome. So far, only few cases have been described overlapping 17p13.3 duplications. METHODS:In this study, we report on clinica...

    journal_title：BMC medical genetics

    pub_type： 杂志文章

    doi：10.1186/s12881-020-0966-9

    authors： Hadj Amor M,Dimassi S,Taj A,Slimani W,Hannachi H,Mlika A,Ben Helel K,Saad A,Mougou-Zerelli S

    更新日期：2020-02-06 00:00:00

  • Evaluation of 22 genetic variants with Crohn's disease risk in the Ashkenazi Jewish population: a case-control study.

    abstract：BACKGROUND:Crohn's disease (CD) has the highest prevalence among individuals of Ashkenazi Jewish (AJ) descent compared to non-Jewish Caucasian populations (NJ). We evaluated a set of well-established CD-susceptibility variants to determine if they can explain the increased CD risk in the AJ population. METHODS:We recr...

    journal_title：BMC medical genetics

    pub_type： 杂志文章

    doi：10.1186/1471-2350-12-63

    authors： Peter I,Mitchell AA,Ozelius L,Erazo M,Hu J,Doheny D,Abreu MT,Present DH,Ullman T,Benkov K,Korelitz BI,Mayer L,Desnick RJ,New York Crohn's Disease Working Group.

    更新日期：2011-05-06 00:00:00

  • Next-generation-based targeted sequencing as an efficient tool for the study of the genetic background in Hirschsprung patients.

    abstract：BACKGROUND:The development of next-generation sequencing (NGS) technologies has a great impact in the human variation detection given their high-throughput. These techniques are particularly helpful for the evaluation of the genetic background in disorders of complex genetic etiology such as Hirschsprung disease (HSCR)...

    journal_title：BMC medical genetics

    pub_type： 杂志文章

    doi：10.1186/s12881-015-0235-5

    authors： Luzón-Toro B,Espino-Paisán L,Fernández RM,Martín-Sánchez M,Antiñolo G,Borrego S

    更新日期：2015-10-05 00:00:00

  • CT60 genotype does not affect CTLA-4 isoform expression despite association to T1D and AITD in northern Sweden.

    abstract：BACKGROUND:Polymorphisms in and around the CTLA-4 gene have previously been associated to T1D and AITD in several populations. One such single nucleotide polymorphism (SNP), CT60, has been reported to affect the expression level ratio of the soluble (sCTLA-4) to full length CTLA-4 (flCTLA-4) isoforms. The aims of our s...

    journal_title：BMC medical genetics

    pub_type： 杂志文章

    doi：10.1186/1471-2350-8-3

    authors： Mayans S,Lackovic K,Nyholm C,Lindgren P,Ruikka K,Eliasson M,Cilio CM,Holmberg D

    更新日期：2007-02-06 00:00:00

  • A non-synonymous coding change in the CYP19A1 gene Arg264Cys (rs700519) does not affect circulating estradiol, bone structure or fracture.

    abstract：BACKGROUND:The biosynthesis of estrogens from androgens is catalyzed by aromatase P450 enzyme, coded by the CYP19A1 gene on chromosome 15q21.2. Genetic variation within the CYP19A1 gene sequence has been shown to alter the function of the enzyme. The aim of this study is to investigate whether a non-synonymous Arg264Cy...

    journal_title：BMC medical genetics

    pub_type： 杂志文章

    doi：10.1186/1471-2350-12-165

    authors： Wang JZ,Deogan MS,Lewis JR,Chew S,Mullin BH,McNab TJ,Wilson SG,Ingley E,Prince RL

    更新日期：2011-12-20 00:00:00

  • Neural network analysis in pharmacogenetics of mood disorders.

    abstract：BACKGROUND:The increasing number of available genotypes for genetic studies in humans requires more advanced techniques of analysis. We previously reported significant univariate associations between gene polymorphisms and antidepressant response in mood disorders. However the combined analysis of multiple gene polymor...

    journal_title：BMC medical genetics

    pub_type： 杂志文章

    doi：10.1186/1471-2350-5-27

    authors： Serretti A,Smeraldi E

    更新日期：2004-12-09 00:00:00

  • Whole exome sequencing identified mutations causing hearing loss in five consanguineous Pakistani families.

    abstract：BACKGROUND:Hearing loss is the most common sensory defect, and it affects over 6% of the population worldwide. Approximately 50-60% of hearing loss patients are attributed to genetic causes. Currently, more than 100 genes have been reported to cause non-syndromic hearing loss. It is possible and efficient to screen all...

    journal_title：BMC medical genetics

    pub_type： 杂志文章

    doi：10.1186/s12881-020-01087-x

    authors： Zhou Y,Tariq M,He S,Abdullah U,Zhang J,Baig SM

    更新日期：2020-07-18 00:00:00

  • PDGF-D gene polymorphism is associated with increased cardiovascular mortality in elderly men.

    abstract：BACKGROUND:Platelet-derived growth factor (PDGF) D has been reported to be active in fibroblasts, and in areas of myocardial infarction. In this longitudinal study we evaluated the association between PDGF-D polymorphism and cardiovascular mortality, and attempted to discover whether specific genotype differences regar...

    journal_title：BMC medical genetics

    pub_type： 杂志文章

    doi：10.1186/s12881-016-0325-z

    authors： Alehagen U,Olsen RS,Länne T,Matussek A,Wågsäter D

    更新日期：2016-09-01 00:00:00

  • Genome-wide association to body mass index and waist circumference: the Framingham Heart Study 100K project.

    abstract：BACKGROUND:Obesity is related to multiple cardiovascular disease (CVD) risk factors as well as CVD and has a strong familial component. We tested for association between SNPs on the Affymetrix 100K SNP GeneChip and measures of adiposity in the Framingham Heart Study. METHODS:A total of 1341 Framingham Heart Study part...

    journal_title：BMC medical genetics

    pub_type： 杂志文章

    doi：10.1186/1471-2350-8-S1-S18

    authors： Fox CS,Heard-Costa N,Cupples LA,Dupuis J,Vasan RS,Atwood LD

    更新日期：2007-09-19 00:00:00

  • Response to olaparib in metastatic castration-resistant prostate cancer with germline BRCA2 mutation: a case report.

    abstract：BACKGROUND:Prostate cancer is a heterogeneous disease, meaning patients would benefit from different treatment strategies based on their molecular stratification. In recent years, several genomic studies have identified prostate cancers with defects in DNA repair genes. It is known that the PARP inhibitor, olaparib, ha...

    journal_title：BMC medical genetics

    pub_type： 杂志文章

    doi：10.1186/s12881-018-0703-9

    authors： Ma Y,He L,Huang Q,Zheng S,Zhang Z,Li H,Liu S

    更新日期：2018-10-17 00:00:00

  • Functional effects of the TMEM43 Ser358Leu mutation in the pathogenesis of arrhythmogenic right ventricular cardiomyopathy.

    abstract：BACKGROUND:The Ser358Leu mutation in TMEM43, encoding an inner nuclear membrane protein, has been implicated in arrhythmogenic right ventricular cardiomyopathy (ARVC). The pathogenetic mechanisms of this mutation are poorly understood. METHODS:To determine the frequency of TMEM43 mutations as a cause of ARVC, we scree...

    journal_title：BMC medical genetics

    pub_type： 杂志文章

    doi：10.1186/1471-2350-13-21

    authors： Rajkumar R,Sembrat JC,McDonough B,Seidman CE,Ahmad F

    更新日期：2012-03-29 00:00:00

  • A case report of novel mutation in PRF1 gene, which causes familial autosomal recessive hemophagocytic lymphohistiocytosis.

    abstract：BACKGROUND:Hemophagocytic Lymphohistiocytosis (HLH) is a life-threatening immunodeficiency and multi-organ disease that affects people of all ages and ethnic groups. Common symptoms and signs of this disease are high fever, hepatosplenomegaly, and cytopenias. Familial form of HLH disease, which is an autosomal recessiv...

    journal_title：BMC medical genetics

    pub_type： 杂志文章

    doi：10.1186/s12881-017-0404-9

    authors： Bordbar MR,Modarresi F,Farazi Fard MA,Dastsooz H,Shakib Azad N,Faghihi MA

    更新日期：2017-05-03 00:00:00

  • Novel mutations of STXBP2 and LYST associated with adult haemophagocytic lymphohistiocytosis with Epstein-Barr virus infection: a case report.

    abstract：BACKGROUND:Haemophagocytic lymphohistiocytosis is a life-threatening disease resulting from primary or secondary hyper-inflammatory disorders. The typical symptoms include persistent fever, splenomegaly, cytopenia and significant elevation of serum ferritin. CASE PRESENTATION:We report a 30-year-old Chinese female pat...

    journal_title：BMC medical genetics

    pub_type： 杂志文章

    doi：10.1186/s12881-019-0765-3

    authors： Sheng L,Zhang W,Gu J,Shen K,Luo H,Yang Y

    更新日期：2019-02-19 00:00:00

  • The vitamin D receptor polymorphism in the translation initiation codon is a risk factor for insulin resistance in glucose tolerant Caucasians.

    abstract：BACKGROUND:Although vitamin D receptor (VDR) polymorphisms have been shown to be associated with abnormal glucose metabolism, the reported polymorphisms are unlikely to have any biological consequences. The VDR gene has two potential translation initiation sites. A T-to-C polymorphism has been noted in the first ATG (f...

    journal_title：BMC medical genetics

    pub_type： 杂志文章

    doi：10.1186/1471-2350-2-2

    authors： Chiu KC,Chuang LM,Yoon C

    更新日期：2001-01-01 00:00:00

  • SRY mutation analysis by next generation (deep) sequencing in a cohort of chromosomal Disorders of Sex Development (DSD) patients with a mosaic karyotype.

    abstract：BACKGROUND:The presence of the Y-chromosome or Y chromosome-derived material is seen in 4-60% of Turner syndrome patients (Chromosomal Disorders of Sex Development (DSD)). DSD patients with specific Y-chromosomal material in their karyotype, the GonadoBlastoma on the Y-chromosome (GBY) region, have an increased risk of...

    journal_title：BMC medical genetics

    pub_type： 杂志文章

    doi：10.1186/1471-2350-13-108

    authors： Hersmus R,Stoop H,Turbitt E,Oosterhuis JW,Drop SL,Sinclair AH,White SJ,Looijenga LH

    更新日期：2012-11-16 00:00:00

  • Hereditary hemochromatosis (HFE) genotypes in heart failure: relation to etiology and prognosis.

    abstract：BACKGROUND:It is believed that hereditary hemochromatosis (HH) might play a role in cardiac disease (heart failure (HF) and ischemia). Mutations within several genes are HH-associated, the most common being the HFE gene. In a large cohort of HF patients, we sought to determine the etiological role and the prognostic si...

    journal_title：BMC medical genetics

    pub_type： 杂志文章

    doi：10.1186/1471-2350-11-117

    authors： Møller DV,Pecini R,Gustafsson F,Hassager C,Hedley P,Jespersgaard C,Torp-Pedersen C,Christiansen M,Køber LV,EchoCardiography and Heart Outcome Study Investigators.

    更新日期：2010-07-29 00:00:00

  • Gene spectrum analysis of thalassemia for people residing in northern China.

    abstract：BACKGROUND:Southern China provinces have high incidence of thalassemia, however, sporadic cases can be found in northern China as well. METHODS:People resided in north China who were suspected to have thalassemia were detected mutations by gap-polymerase chain reaction (Gap-PCR) and reverse dot blot (RDB) analyses. Th...

    journal_title：BMC medical genetics

    pub_type： 杂志文章

    doi：10.1186/s12881-019-0818-7

    authors： Yang Z,Zhou W,Cui Q,Qiu L,Han B

    更新日期：2019-05-22 00:00:00

  • Patients affected with Fabry disease have an increased incidence of progressive hearing loss and sudden deafness: an investigation of twenty-two hemizygous male patients.

    abstract：BACKGROUND:Fabry disease (FD, OMIM 301500) is an X-linked inborn error of glycosphingolipid metabolism due to the deficient activity of alpha-galactosidase A, a lysosomal enzyme. While the progressive systemic deposition of uncleaved glycosphingolipids throughout the body is known to have protean clinical manifestation...

    journal_title：BMC medical genetics

    pub_type： 杂志文章

    doi：10.1186/1471-2350-3-10

    authors： Germain DP,Avan P,Chassaing A,Bonfils P

    更新日期：2002-10-11 00:00:00

  • High resolution melting: improvements in the genetic diagnosis of hypertrophic cardiomyopathy in a Portuguese cohort.

    abstract：BACKGROUND:Hypertrophic Cardiomyopathy (HCM) is a complex myocardial disorder with a recognized genetic heterogeneity. The elevated number of genes and mutations involved in HCM limits a gene-based diagnosis that should be considered of most importance for basic research and clinical medicine. METHODOLOGY:In this repo...

    journal_title：BMC medical genetics

    pub_type： 杂志文章

    doi：10.1186/1471-2350-13-17

    authors： Santos S,Marques V,Pires M,Silveira L,Oliveira H,Lança V,Brito D,Madeira H,Esteves JF,Freitas A,Carreira IM,Gaspar IM,Monteiro C,Fernandes AR

    更新日期：2012-03-19 00:00:00

  • Next-generation sequencing reveals a new mutation in the LTBP2 gene associated with microspherophakia in a Spanish family.

    abstract：BACKGROUND:Microspherophakia is a rare autosomal recessive eye disorder characterized by small spherical lens. It may present as an isolated finding or in association with other ocular and/or systemic disorders. This clinical and genetic heterogeneity requires the study of large genes (ADAMTSL4, FBN1, LTBP2, ADAMTSL-10...

    journal_title：BMC medical genetics

    pub_type： 杂志文章

    doi：10.1186/s12881-018-0590-0

    authors： Alías L,Crespi J,González-Quereda L,Téllez J,Martínez E,Bernal S,Gallano MP

    更新日期：2018-05-11 00:00:00

  • Gene sequence variations of the platelet P2Y12 receptor are associated with coronary artery disease.

    abstract：BACKGROUND:The platelet P2Y12 receptor plays a key role in platelet activation. The H2 haplotype of the P2Y12 receptor gene (P2RY12) has been found to be associated with maximal aggregation response to adenosine diphosphate (ADP) and with increased risk for peripheral arterial disease. No data are available on its asso...

    journal_title：BMC medical genetics

    pub_type： 杂志文章

    doi：10.1186/1471-2350-8-59

    authors： Cavallari U,Trabetti E,Malerba G,Biscuola M,Girelli D,Olivieri O,Martinelli N,Angiolillo DJ,Corrocher R,Pignatti PF

    更新日期：2007-09-05 00:00:00

  • Genome-wide association study for renal traits in the Framingham Heart and Atherosclerosis Risk in Communities Studies.

    abstract：BACKGROUND:The Framingham Heart Study (FHS) recently obtained initial results from the first genome-wide association scan for renal traits. The study of 70,987 single nucleotide polymorphisms (SNPs) in 1,010 FHS participants provides a list of SNPs showing the strongest associations with renal traits which need to be v...

    journal_title：BMC medical genetics

    pub_type： 杂志文章

    doi：10.1186/1471-2350-9-49

    authors： Kottgen A,Kao WH,Hwang SJ,Boerwinkle E,Yang Q,Levy D,Benjamin EJ,Larson MG,Astor BC,Coresh J,Fox CS

    更新日期：2008-06-03 00:00:00