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

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

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

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：: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

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

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

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

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：: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：: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

authors： Cohen SA,McIlvried DE

更新日期：2011-06-01 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：: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

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

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

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

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

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

更新日期：2012-03-01 00:00:00

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...

journal_title：Familial cancer

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

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...

journal_title：Familial cancer

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

更新日期：2020-07-01 00:00:00

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. ...

journal_title：Familial cancer

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

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

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

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

authors： Pawlu C,Bausch B,Neumann HP

更新日期：2005-01-01 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：: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：: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

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

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

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

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

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

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...

journal_title：Familial cancer

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

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

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

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

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

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

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

更新日期：2017-04-01 00:00:00

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

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

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

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

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

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

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：: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

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

更新日期：2020-06-06 00:00:00