Development and pilot testing of a leaflet informing women with breast cancer about genomic testing for polygenic risk.


:The inclusion of polygenic risk scores in breast cancer risk prediction models provides a more personalised and accurate prediction of breast cancer risk for women with and without breast cancer, who would otherwise receive negative results from traditional testing of moderate- and high-risk genes. This study aimed to develop, and pilot test a leaflet with a sample of women participating in a large prospective cohort study. The leaflet aimed to provide information about polygenic risk to assist women to decide whether or not to learn results from genomic testing for common risk variants associated with breast cancer risk. A prototype of the leaflet was developed based on published literature and with the expertise from a multidisciplinary team. The acceptability of the leaflet was assessed by self-report questionnaire among 29 women participating in the prospective cohort study. More than 80% participants stated that the leaflet was clear, informative and easy to understand and increased their understanding of polygenic risk information. While low to moderate levels of distress/worry were reported around implications of the test results for the next generation, 71% felt reassured and agreed that the information provided in the leaflet had helped them cope. Pilot-test results indicate the leaflet is acceptable to the participants and the revised leaflet can be used as an information tool for women undergoing genomic testing. This educational leaflet will become a useful information source to meet the information needs of women undergoing genomic testing.


Fam Cancer


Familial cancer


Kaur R,Meiser B,Yanes T,Young MA,Barlow-Stewart K,Roscioli T,Smith S,James PA




Has Abstract


2019-04-01 00:00:00














  • A novel mutation of the succinate dehydrogenase B gene in a Korean family with pheochromocytoma.

    abstract::Pheochromocytoma is a tumor that originates from the adrenal cortex and sympathetic chains. Most pheochromocytomas are sporadic, whereas others occur as hereditary syndromes. Familial pheochromocytoma has been frequently found in association with various mutations in genes of the succinate dehydrogenase family. A 21-y...

    journal_title:Familial cancer

    pub_type: 杂志文章


    authors: Lee SA,Kim EH,Lee YM,Lee W,Min WK,Lee YJ,Huh JR,Lee WJ

    更新日期:2010-12-01 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...

    journal_title:Familial cancer

    pub_type: 杂志文章


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

    更新日期:2012-09-01 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

    pub_type: 杂志文章


    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

  • 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


    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

  • Evaluation of current prediction models for Lynch syndrome: updating the PREMM5 model to identify PMS2 mutation carriers.

    abstract::Until recently, no prediction models for Lynch syndrome (LS) had been validated for PMS2 mutation carriers. We aimed to evaluate MMRpredict and PREMM5 in a clinical cohort and for PMS2 mutation carriers specifically. In a retrospective, clinic-based cohort we calculated predictions for LS according to MMRpredict and P...

    journal_title:Familial cancer

    pub_type: 杂志文章


    authors: Goverde A,Spaander MCW,Nieboer D,van den Ouweland AMW,Dinjens WNM,Dubbink HJ,Tops CJ,Ten Broeke SW,Bruno MJ,Hofstra RMW,Steyerberg EW,Wagner A

    更新日期:2018-07-01 00:00:00

  • The deletion of exons 3-5 of BRCA1 is the first founder rearrangement identified in breast and/or ovarian cancer Spanish families.

    abstract::We recently described a novel g.8097_22733del14637 deletion encompassing exons 3-5 in BRCA1 gene. This rearrangement was detected in 3 of 15 (20 %) breast and/or ovarian cancer families of Eastern Spain. This finding made us suspect that the newly identified deletion could be a founder mutation. To confirm this hypoth...

    journal_title:Familial cancer

    pub_type: 杂志文章


    authors: Palanca S,de Juan I,Perez-Simó G,Barragán E,Chirivella I,Martínez E,Fuster O,Bolufer P

    更新日期:2013-03-01 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


    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

  • 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


    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

  • Disclosing cancer genetic information within families: perspectives of counselees and their at-risk relatives.

    abstract:PURPOSE:The aim of the present descriptive study was to investigate the experience of sharing genetic information among cancer genetic counselees and their at-risk relatives. METHODS:In total, 147 cancer genetic counselees and 81 of their at-risk relatives answered to a study specific questionnaire and/or were intervi...

    journal_title:Familial cancer

    pub_type: 杂志文章


    authors: Hayat Roshanai A,Lampic C,Rosenquist R,Nordin K

    更新日期:2010-12-01 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


    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

  • Double germline mutations in APC and BRCA2 in an individual with a pancreatic tumor.

    abstract::We report on three brothers affected by pancreatic tumors, all due to different causes, including mutations associated with two different cancer predisposition syndromes in the same individual. In the index patient a germline mutation both in the APC and BRCA2 gene was identified while one affected brother showed the ...

    journal_title:Familial cancer

    pub_type: 杂志文章


    authors: Goehringer C,Sutter C,Kloor M,Gebert J,Slater EP,Keller M,Treiber I,Ganschow P,Kadmon M,Moog U

    更新日期:2017-04-01 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...

    journal_title:Familial cancer

    pub_type: 杂志文章


    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

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

    abstract::Germline mutations in BRCA1 and BRCA2 cause hereditary breast and ovarian cancer. Molecular screening of these two genes in patients with a family history of breast or ovarian cancer has revealed pathogenic variants as well as genetic variants of unknown significance (VUS). These VUS may cause a challenge in the genet...

    journal_title:Familial cancer

    pub_type: 杂志文章


    authors: Jarhelle E,Riise Stensland HM,Mæhle L,Van Ghelue M

    更新日期:2017-01-01 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


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

    更新日期:2020-06-06 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


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

    更新日期:2010-03-01 00:00:00

  • Chemoprevention with special reference to inherited colorectal cancer.

    abstract::Familial Adenomatous Polyposis (FAP) is a model for the adenoma-carcinoma sequence in several respects. One important area in which FAP serves as a model is chemoprevention. Early prevention trials mainly utilized micronutrients and were largely unsuccessful in preventing or causing regression of adenomas. A new era w...

    journal_title:Familial cancer

    pub_type: 杂志文章


    authors: Lynch PM

    更新日期:2008-01-01 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...

    journal_title:Familial cancer

    pub_type: 杂志文章


    authors: Einbeigi Z,Bergman A,Meis-Kindblom JM,Flodin A,Bjursell C,Martinsson T,Kindblom LG,Wahlström J,Wallgren A,Nordling M,Karlsson P

    更新日期:2007-01-01 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


    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

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

    abstract::This article provides a historical overview of the online database ( ) 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


    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

  • Frameshift mutation in the PTCH2 gene can cause nevoid basal cell carcinoma syndrome.

    abstract::Nevoid basal cell carcinoma syndrome (NBCCS) is an autosomal dominant disorder characterized by developmental defects and tumorigenesis. The gene responsible for NBCCS is PTCH1, encoding a receptor for the secreted protein, sonic hedgehog. Recently, a Chinese family with NBCCS carrying a missense mutation in PTCH2, a ...

    journal_title:Familial cancer

    pub_type: 杂志文章


    authors: Fujii K,Ohashi H,Suzuki M,Hatsuse H,Shiohama T,Uchikawa H,Miyashita T

    更新日期:2013-12-01 00:00:00

  • Cancer genetic predisposition: information needs of patients irrespective of risk level.

    abstract::Increased insight into the information needs of people about cancer genetic predisposition could allow materials to be developed to improve decision-making for those at high risk, whilst those at lower risk could have their anxiety reduced without the need for referral to genetics services. This study aimed to identif...

    journal_title:Familial cancer

    pub_type: 杂志文章


    authors: Metcalfe A,Werrett J,Burgess L,Chapman C,Clifford C

    更新日期:2009-01-01 00:00:00

  • An investigation of the factors effecting high-risk individuals' decision-making about prophylactic total gastrectomy and surveillance for hereditary diffuse gastric cancer (HDGC).

    abstract::Hereditary diffuse gastric cancer has an early onset and poor prognosis, therefore, individuals who carry a pathogenic (CDH1) mutation in the E-cadherin gene (CDH1) are offered endoscopic surveillance and advised to undergo prophylactic total gastrectomy (PTG) in their early to mid-twenties. Patients not ready or fit ...

    journal_title:Familial cancer

    pub_type: 杂志文章


    authors: Hallowell N,Badger S,Richardson S,Caldas C,Hardwick RH,Fitzgerald RC,Lawton J

    更新日期:2016-10-01 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


    authors: Pawlu C,Bausch B,Neumann HP

    更新日期:2005-01-01 00:00:00

  • Unmet support needs and distress among women with a BRCA1/2 mutation.

    abstract::Distress levels among female BRCA1/2 mutation carriers can be similar to levels found among breast cancer patients. While psychological distress has been associated with unmet needs among cancer patients no study has examined this among BRCA1/2 mutation carriers. The objectives of this study were to: (1) describe the ...

    journal_title:Familial cancer

    pub_type: 杂志文章


    authors: Farrelly A,White V,Meiser B,Jefford M,Young MA,Ieropoli S,Winship I,Duffy J

    更新日期:2013-09-01 00:00:00

  • Pitfalls in the diagnosis of biallelic PMS2 mutations.

    abstract::Constitutional Mismatch Repair Deficiency (CMMR-D) syndrome is an inherited childhood cancer syndrome due to bi-allelic mutations in one of the four DNA mismatch repair genes involved in Lynch syndrome. The tumor spectrum of this syndrome includes hematological, brain and Lynch syndrome associated malignancies, with a...

    journal_title:Familial cancer

    pub_type: 杂志文章


    authors: Antelo M,Milito D,Rhees J,Roca E,Barugel M,Cuatrecasas M,Moreira L,Leoz ML,Carballal S,Ocaña T,Pellisé M,Castells A,Boland CR,Goel A,Balaguer F

    更新日期:2015-09-01 00:00:00

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

    abstract::Li-Fraumeni syndrome (LFS) is an autosomal dominantly inherited cancer predisposition syndrome characterized by a combination of tumors including sarcoma, breast cancer, brain tumors, adrenocortical carcinoma and leukemia. Germline mutations in the tumor suppressor gene TP53 are associated with LFS. We present a famil...

    journal_title:Familial cancer

    pub_type: 杂志文章


    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

  • A case of Muir-Torre syndrome associated with mucinous hepatic cholangiocarcinoma and a novel germline mutation of the MSH2 gene.

    abstract::Muir-Torre syndrome (MTS) is a rare cancer-predisposing syndrome that is autosomal dominantly inherited and characterized by the development of sebaceous skin lesions (adenomas, epitheliomas, basaliomas and carcinomas). These lesions are typically associated with tumors that belong to the spectrum of hereditary nonpol...

    journal_title:Familial cancer

    pub_type: 杂志文章


    authors: Vernez M,Hutter P,Monnerat C,Halkic N,Gugerli O,Bouzourene H

    更新日期:2007-01-01 00:00:00

  • Quality of life following prophylactic gynecological surgery: experiences of female Lynch mutation carriers.

    abstract::Lynch syndrome (LS) is a genetic condition conferring an elevated risk of gastrointestinal, gynecologic and other malignancies, often before the age of 50. Current guidelines recommend prophylactic gynecologic surgery to manage inherited cancers for female mutation carriers. Data is lacking on women's quality of life ...

    journal_title:Familial cancer

    pub_type: 杂志文章


    authors: Etchegary H,Dicks E,Tamutis L,Dawson L

    更新日期:2018-01-01 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


    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

  • 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


    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