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 (WES) approach, we showed that the deceased twin's tumour has bi-allelic somatic genetic defects (a pathogenic frameshift deletion in SMARCA4 and LOH on chr19p). Results of WES of constitutional DNA from her unaffected sister were confirmatory. Based on our findings, we concluded that the living twin is not at risk for SCCOHT and does not need to consider preventive oophorectomy.

journal_name

Fam Cancer

journal_title

Familial cancer

authors

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

doi

10.1007/s10689-018-0108-0

subject

Has Abstract

pub_date

2019-04-01 00:00:00

pages

161-163

issue

2

eissn

1389-9600

issn

1573-7292

pii

10.1007/s10689-018-0108-0

journal_volume

18

pub_type

信件
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    更新日期:2012-06-01 00:00:00

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    doi:10.1007/s10689-004-4227-4

    authors: Pawlu C,Bausch B,Neumann HP

    更新日期:2005-01-01 00:00:00

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    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...

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    更新日期:2011-06-01 00:00:00

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    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

  • Immunohistochemical null-phenotype for mismatch repair proteins in colonic carcinoma associated with concurrent MLH1 hypermethylation and MSH2 somatic mutations.

    abstract::Microsatellite instability, a well-established driver pathway in colorectal carcinogenesis, can develop in both sporadic and hereditary conditions via different molecular alterations in the DNA mismatch repair (MMR) genes. MMR protein immunohistochemistry (IHC) is currently widely used for the detection of MMR deficie...

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    pub_type: 杂志文章

    doi:10.1007/s10689-017-0031-9

    authors: Wang T,Stadler ZK,Zhang L,Weiser MR,Basturk O,Hechtman JF,Vakiani E,Saltz LB,Klimstra DS,Shia J

    更新日期:2018-04-01 00:00:00

  • Uptake of genetic counseling, genetic testing and surveillance in hereditary malignant melanoma (CDKN2A) in Norway.

    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...

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    doi:10.1007/s10689-016-9939-8

    authors: Levin T,Mæhle L

    更新日期:2017-04-01 00:00:00

  • Two TP53 germline mutations in a classical Li-Fraumeni syndrome family.

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    doi:10.1007/s10689-006-9115-7

    authors: van Hest LP,Ruijs MW,Wagner A,van der Meer CA,Verhoef S,van't Veer LJ,Meijers-Heijboer H

    更新日期:2007-01-01 00:00:00

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

    abstract::The Dutch Hereditary Cancer Registry was established in 1985 with the support of the Ministry of Health (VWS). The aims of the registry are: (1) to promote the identification of families with hereditary cancer, (2) to encourage the participation in surveillance programs of individuals at high risk, (3) to ensure the c...

    journal_title:Familial cancer

    pub_type: 杂志文章

    doi:10.1007/s10689-016-9897-1

    authors: Vasen HF,Velthuizen ME,Kleibeuker JH,Menko FH,Nagengast FM,Cats A,van der Meulen-de Jong AE,Breuning MH,Roukema AJ,van Leeuwen-Cornelisse I,de Vos Tot Nederveen Cappel WH,Wijnen JT

    更新日期:2016-07-01 00:00:00

  • Adult weight gain and central obesity in women with and without a family history of breast cancer: a case control study.

    abstract::Adult weight gain and central obesity can increase breast cancer risk. We determined the prevalence of adult weight gain and central obesity amongst women with a family history (FH) as compared to women with a population risk to determine whether adiposity could contribute to their increased risk. Adult weight gain, w...

    journal_title:Familial cancer

    pub_type: 杂志文章

    doi:10.1007/s10689-007-9122-3

    authors: Harvie MN,Bokhari S,Shenton A,Ashcroft L,Evans G,Swindell R,Howell A

    更新日期:2007-01-01 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...

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    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

  • The consequences of risk reducing salpingo-oophorectomy: the case for a coordinated approach to long-term follow up post surgical menopause.

    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...

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    pub_type: 杂志文章

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    authors: Pezaro C,James P,McKinley J,Shanahan M,Young MA,Mitchell G

    更新日期:2012-09-01 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...

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    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

  • Contribution of bi-allelic germline MUTYH mutations to early-onset and familial colorectal cancer and to low number of adenomatous polyps: case-series and literature review.

    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...

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    更新日期:2013-03-01 00:00:00

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    更新日期:2013-12-01 00:00:00

  • Sarcomas associated with hereditary nonpolyposis colorectal cancer: broad anatomical and morphological spectrum.

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    doi:10.1007/s10689-008-9230-8

    authors: Nilbert M,Therkildsen C,Nissen A,Akerman M,Bernstein I

    更新日期:2009-01-01 00:00:00

  • CTNNB1-mutant colorectal carcinomas with immediate invasive growth: a model of interval cancers in Lynch syndrome.

    abstract::The implementation of regular colonoscopy programs has significantly decreased the mortality associated with colorectal cancer (CRC) in Lynch syndrome patients. However, interval CRCs in Lynch syndrome that remain undetected by colonoscopy still represent a substantial problem in the management of the syndrome. One po...

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    doi:10.1007/s10689-016-9899-z

    authors: Ahadova A,von Knebel Doeberitz M,Bläker H,Kloor M

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  • Whole exome sequencing identifies mutation of EDNRA involved in ACTH-independent macronodular adrenal hyperplasia.

    abstract::ACTH independent macronodular adrenal hyperplasia (AIMAH) is a rare disorder characterized by bilateral macronodular hyperplasia of the adrenal glands and increased cortisol production with subclinical or overt Cushing's syndrome. Although the family clustering of AIMAH is infrequent, we have tried our best to find su...

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    doi:10.1007/s10689-013-9642-y

    authors: Zhu J,Cui L,Wang W,Hang XY,Xu AX,Yang SX,Dou JT,Mu YM,Zhang X,Gao JP

    更新日期:2013-12-01 00:00:00

  • Occurrence of both breast and ovarian cancer in a woman is a marker for the BRCA gene mutations: a population-based study from western Sweden.

    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...

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    更新日期:2007-01-01 00:00:00

  • Uroepithelial and kidney carcinoma in Lynch syndrome.

    abstract::Increased risk for urological tumors has been observed in mutation carriers with Lynch syndrome (LS). In this study, we evaluated the clinical features of uroepithelial (bladder and ureter) and kidney cancers in 974 Finnish mutation carriers. Altogether 30 patients had a total of 34 urological tumors: 12 ureter, 12 bl...

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    authors: Aarnio M,Säily M,Juhola M,Gylling A,Peltomäki P,Järvinen HJ,Mecklin JP

    更新日期:2012-09-01 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 ...

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    更新日期:2005-01-01 00:00:00

  • Absence of the common IGF1 19 CA-repeat allele is more common among BRCA1 mutation carriers than among non-carriers from BRCA1 families.

    abstract::BRCA1 mutations predispose to early-onset breast cancer. We previously reported an association between absence of the common IGF1 19 CA-repeat allele (IGF1-19/-19) and being a BRCA1 mutation carrier in young women from breast cancer high-risk families. Others have reported a four-fold risk of premenopausal breast canc...

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    更新日期:2007-01-01 00:00:00

  • Characterization of BRCA1 and BRCA2 variants found in a Norwegian breast or ovarian cancer cohort.

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    更新日期:2014-03-01 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...

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  • NTHL1-associate polyposis: first Australian case report.

    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

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  • Promoter hypermethylation frequency and BRAF mutations distinguish hereditary non-polyposis colon cancer from sporadic MSI-H colon cancer.

    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...

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    doi:10.1023/B:FAME.0000039861.30651.c8

    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

  • Can a phenotype for recessive inheritance in breast cancer be defined?

    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...

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    pub_type: 杂志文章

    doi:10.1007/s10689-010-9355-4

    authors: Ellberg C,Jönsson G,Olsson H

    更新日期:2010-12-01 00:00:00

  • Genotype and phenotype in hereditary nonpolyposis colon cancer: a study of families with different vs. shared predisposing mutations.

    abstract::Hereditary nonpolyposis colorectal cancer (HNPCC) is a multi-organ cancer syndrome associated with heritable mutations in DNA mismatch repair genes, particularly MLH1 (MutL Homologue 1) and MSH2 (MutS Homologue 2). We took advantage of the unique characteristics of the Finnish HNPCC families to assess genotype- phenot...

    journal_title:Familial cancer

    pub_type: 杂志文章

    doi:10.1023/a:1011564720772

    authors: Peltomäki P,Gao X,Mecklin JP

    更新日期:2001-01-01 00:00:00

  • Hereditary diffuse gastric cancer: cancer risk and the personal cost of preventive surgery.

    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

    authors: Kaurah P,Talhouk A,MacMillan A,Lewis I,Chelcun-Schreiber K,Yoon SS,Huntsman D

    更新日期:2019-10-01 00:00:00

  • Controversies in the surgery of patients with familial adenomatous polyposis and Lynch syndrome.

    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

    authors: Church JM

    更新日期:2016-07-01 00:00:00