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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    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...

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    更新日期:2019-10-01 00:00:00

  • Progress Report: New insights into the prevention of CRC by colonoscopic surveillance in Lynch syndrome.

    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...

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    更新日期:2021-01-19 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

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    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

  • A survey of APC mutations in Quebec.

    abstract::This is an 11-year survey of molecular analysis of APC germline mutations for the province of Quebec done at the Molecular Pathology Unit of the Jewish General Hospital which offers genetic testing for hereditary forms of colorectal cancer for the whole of Quebec province. We report on 47 unique mutations seen in 66 f...

    journal_title:Familial cancer

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    doi:10.1007/s10689-011-9468-4

    authors: Jarry J,Brunet JS,Laframboise R,Drouin R,Latreille J,Richard C,Gekas J,Maranda B,Monczak Y,Wong N,Pouchet C,Zaor S,Kasprzak L,Palma L,Wu MK,Tischkowitz M,Foulkes WD,Chong G

    更新日期:2011-12-01 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

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    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

  • Screening of 1331 Danish breast and/or ovarian cancer families identified 40 novel BRCA1 and BRCA2 mutations.

    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

    pub_type: 杂志文章

    doi:10.1007/s10689-011-9422-5

    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

  • Impact of computer-assisted data collection, evaluation and management on the cancer genetic counselor's time providing patient care.

    abstract::Cancer genetic counseling sessions traditionally encompass collecting medical and family history information, evaluating that information for the likelihood of a genetic predisposition for a hereditary cancer syndrome, conveying that information to the patient, offering genetic testing when appropriate, obtaining cons...

    journal_title:Familial cancer

    pub_type: 杂志文章

    doi:10.1007/s10689-011-9417-2

    authors: Cohen SA,McIlvried DE

    更新日期:2011-06-01 00:00:00

  • Analysis of a Finnish family confirms RHBDF2 mutations as the underlying factor in tylosis with esophageal cancer.

    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

    pub_type: 杂志文章

    doi:10.1007/s10689-012-9532-8

    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

  • Heterogeneity of familial medulloblastoma and contribution of germline PTCH1 and SUFU mutations to sporadic medulloblastoma.

    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

    authors: Slade I,Murray A,Hanks S,Kumar A,Walker L,Hargrave D,Douglas J,Stiller C,Izatt L,Rahman N

    更新日期:2011-06-01 00:00:00

  • Are prediction models for Lynch syndrome valid for probands with endometrial cancer?

    abstract::Currently, three prediction models are used to predict a patient's risk of having Lynch syndrome (LS). These models have been validated in probands with colorectal cancer (CRC), but not in probands presenting with endometrial cancer (EMC). Thus, the aim was to determine the performance of these prediction models in wo...

    journal_title:Familial cancer

    pub_type: 杂志文章

    doi:10.1007/s10689-009-9273-5

    authors: Backes FJ,Hampel H,Backes KA,Vaccarello L,Lewandowski G,Bell JA,Reid GC,Copeland LJ,Fowler JM,Cohn DE

    更新日期:2009-01-01 00:00:00

  • Two novel mutations in hMLH1 gene in Iranian hereditary non-polyposis colorectal cancer patients.

    abstract::Hereditary non-polyposis colorectal cancer (HNPCC) is one of the most common forms of hereditary colorectal cancer. It is an autosomal dominant disorder resulting from germline mutations in DNA mismatch repair genes. In this study, we screened hMLH1 gene in a group of Iranian HNPCC patients using polymerase chain reac...

    journal_title:Familial cancer

    pub_type: 杂志文章

    doi:10.1007/s10689-011-9478-2

    authors: Shahmoradi S,Bidmeshkipour A,Salamian A,Emami MH,Kazemi Z,Salehi M

    更新日期:2012-03-01 00:00:00

  • Multiple skin hamartomata: a possible novel clinical presentation of SUFU neoplasia syndrome.

    abstract::Medulloblastoma tumours may arise sporadically or as part of an inherited syndrome. A subset of children with medulloblastoma carry germline and somatic mutations in the SUFU tumour suppressor gene located at 10q24. We report a 55 year old woman referred for investigation on the basis of skin lesions and a family hist...

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    authors: Mann K,Magee J,Guillaud-Bataille M,Blondel C,Bressac-de Paillerets B,Yeatman J,Winship I

    更新日期:2015-03-01 00:00:00

  • Waiting and "weighted down": the challenge of anticipatory loss for individuals and families with Li-Fraumeni Syndrome.

    abstract::Li-Fraumeni Syndrome (LFS) is characterized by risk of multiple primary malignancies in diverse sites, pediatric onset, near complete penetrance by age 70 years, limited options for prevention, and substantial uncertainty regarding disease manifestation and prognosis. Forty-five families, including 117 individuals age...

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    authors: Werner-Lin A,Young JL,Wilsnack C,Merrill SL,Groner V,Greene MH,Khincha PP

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  • Lynch Syndrome in high risk Ashkenazi Jews in Israel.

    abstract::Lynch Syndrome is caused by mutations in DNA mismatch repair genes. Diagnosis is not always trivial and may be costly. Information regarding incidence, genotype-phenotype correlation, spectrum of mutations and genes involved in specific populations facilitate the diagnostic process and contribute to clinical work-up. ...

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    authors: Goldberg Y,Kedar I,Kariiv R,Halpern N,Plesser M,Hubert A,Kaduri L,Sagi M,Lerer I,Abeliovich D,Hamburger T,Nissan A,Goldshmidt H,Solar I,Geva R,Strul H,Rosner G,Baris H,Levi Z,Peretz T

    更新日期:2014-03-01 00:00:00

  • Epitope-positive truncating MLH1 mutation and loss of PMS2: implications for IHC-directed genetic testing for Lynch syndrome.

    abstract::We assessed mismatch repair by immunohistochemistry (IHC) and microsatellite instability (MSI) analysis in an early onset endometrial cancer and a sister's colon cancer. We demonstrated high-level MSI and normal expression for MLH1, MSH2 and MSH6. PMS2 failed to stain in both tumors, strongly implicating a PMS2 defect...

    journal_title:Familial cancer

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    doi:10.1007/s10689-009-9276-2

    authors: Zighelboim I,Powell MA,Babb SA,Whelan AJ,Schmidt AP,Clendenning M,Senter L,Thibodeau SN,de la Chapelle A,Goodfellow PJ

    更新日期:2009-01-01 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

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    authors: Pawlu C,Bausch B,Neumann HP

    更新日期:2005-01-01 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

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

    更新日期:2010-03-01 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...

    journal_title:Familial cancer

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    authors: Ellberg C,Jönsson G,Olsson H

    更新日期:2010-12-01 00:00:00

  • Identification of a novel PMS2 alteration c.505C>G (R169G) in trans with a PMS2 pathogenic mutation in a patient with constitutional mismatch repair deficiency.

    abstract::Constitutional mismatch repair deficiency syndrome (CMMRD) is a rare autosomal recessive predisposition to colorectal polyposis and other malignancies, often childhood-onset, that is caused by biallelic inheritance of mutations in the same mismatch repair gene. Here, we describe a patient with a clinical diagnosis of ...

    journal_title:Familial cancer

    pub_type: 杂志文章

    doi:10.1007/s10689-016-9902-8

    authors: Mork ME,Borras E,Taggart MW,Cuddy A,Bannon SA,You YN,Lynch PM,Ramirez PT,Rodriguez-Bigas MA,Vilar E

    更新日期:2016-10-01 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...

    journal_title:Familial cancer

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    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

  • Screening behavior in women at increased familial risk for breast cancer.

    abstract::This multicenter study examined the adherence of high-risk women to screening recommendations for breast and ovarian cancer following consultation at a familial cancer clinic (FCC). Self-report questionnaires assessing recall of screening advice, tests undertaken, risk perception, anxiety (Impact of Events Scale) and ...

    journal_title:Familial cancer

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    doi:10.1007/s10689-006-0006-8

    authors: Antill YC,Reynolds J,Young MA,Kirk JA,Tucker KM,Bogtstra TL,Wong SS,Dudding TE,Di Iulio JL,Phillips KA

    更新日期:2006-01-01 00:00:00

  • Germline CDH1 mutations are a significant contributor to the high frequency of early-onset diffuse gastric cancer cases in New Zealand Māori.

    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...

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    authors: Hakkaart C,Ellison-Loschmann L,Day R,Sporle A,Koea J,Harawira P,Cheng S,Gray M,Whaanga T,Pearce N,Guilford P

    更新日期:2019-01-01 00:00:00

  • Lack of germ-line mutations at the specific BRCA1-IRIS coding sequence in 114 Spanish high-risk breast/ovarian families.

    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

    authors: de la Hoya M,Fernández JM,Sánchez de Abajo A,Tosar A,Díaz-Rubio E,Caldés T

    更新日期:2005-01-01 00:00:00

  • Common MUTYH mutations and colorectal cancer risk in multiethnic populations.

    abstract::MUTYH is associated with colorectal cancer (CRC) risk. We studied the frequency of MUTYH and risk of CRC in Arabs, North African and European Jews. Participants were all 593 Sephardi Moroccan Jews (232 cases, 361 controls) and all 631 Arabs (327 cases, 304 controls) recruited into a population-based study of colorecta...

    journal_title:Familial cancer

    pub_type: 杂志文章

    doi:10.1007/s10689-012-9516-8

    authors: Lejbkowicz F,Cohen I,Barnett-Griness O,Pinchev M,Poynter J,Gruber SB,Rennert G

    更新日期:2012-09-01 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

  • The 1100delAT BRCA1 and the 8765delAG BRCA2 mutations: occurrence in high-risk non-Ashkenazi Jews and haplotype comparison of Jewish and non-Jewish carriers.

    abstract::Few mutations have been described in BRCA1 and BRCA2 in high-risk non-Ashkenazi Jews. In a Libyan family the 1100delAT BRCA1 mutation was detected and the 8765delAG BRCA2 mutation was previously described in two Jewish-Yemenite-families. In this study, the rate of these mutations in high-risk Jews of North African and...

    journal_title:Familial cancer

    pub_type: 杂志文章

    doi:10.1023/B:FAME.0000026837.32470.b4

    authors: Gal I,Gershoni Baruch R,Haber D,Dagan E,Eisenberg-Barzilai S,Zidan J,Friedman E

    更新日期:2004-01-01 00:00:00

  • Nurse-led cancer genetics clinics in primary and secondary care in varied ethnic population areas: interaction with primary care to improve ascertainment of individuals from ethnic minorities.

    abstract::Genetic services are receiving increasing numbers of referrals of people with a family history of cancer for assessment of genetic risk, and therefore need to find cost-effective ways of meeting this rising demand. General Practitioners (GPs) are known to be reluctant to take on genetic consultations. Current evidence...

    journal_title:Familial cancer

    pub_type: 杂志文章

    doi:10.1007/s10689-007-9128-x

    authors: Gulzar Z,Goff S,Njindou A,Hearty H,Rafi I,Savage R,Matta G,Ferras J,Hodgson S

    更新日期:2007-01-01 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

  • Do individuals with a family history of colorectal cancer adhere to medical recommendations for the prevention of colorectal cancer?

    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

    pub_type: 杂志文章

    doi:10.1007/s10689-013-9627-x

    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

  • Two cases of somatic STK11 mosaicism in Danish patients with Peutz-Jeghers syndrome.

    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

    authors: Jelsig AM,Bertelsen B,Forss I,Karstensen JG

    更新日期:2020-06-06 00:00:00