当前位置： SCI文献检索 > Familial Cancer期刊下所有文献 > Breast and ovarian cancer risk management in a French cohort of 158 women carrying a BRCA1 or BRCA2 germline mutation: patient choices and outcome.

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 followed. The following variables were studied: general and gynecological characteristics, data concerning any prophylactic procedures, and data concerning the outcome of these patients. Median age at inclusion was 37 years and median follow-up was 54 months. Among the 156 women who received systematic information about prophylactic mastectomy, 5.3 % decided to undergo surgery within 36 months after disclosure of genetic results. Prophylactic salpingo-oophorectomy was performed in 68 women. Among women in whom follow-up started between the ages of 40 and 50 years, prophylactic salpingo-oophorectomy was performed, within 24 months after start of follow-up, in 83.7 and 52 % of women with BRCA1 and BRCA2 mutations, respectively. Twenty four women developed breast cancer. Ovarian cancer was detected during prophylactic salpingo-oophorectomy in two women (2.9 %). In this cohort of French women carrying BRCA1/2 mutations, prophylactic mastectomy was a rarely used option. However, good compliance with prophylactic salpingo-oophorectomy was observed. This study confirms the high breast cancer risk in these women.

journal_name

Fam Cancer

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

doi

10.1007/s10689-012-9539-1

subject

Has Abstract

pub_date

2012-09-01 00:00:00

pages

473-82

issue

3

eissn

1389-9600

issn

1573-7292

journal_volume

11

pub_type

临床试验,杂志文章

相关文献

Familial Cancer文献大全
  • 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

    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

  • Response to neo-adjuvant chemotherapy in BRCA1 and BRCA2 related stage III breast cancer.

    abstract：:Pathological features and consequently, tumor response differ between BRCA1/2 carriers and sporadic breast cancer (BC) cases. It is expected that BRCA1/2 associated tumors will be more vulnerable to DNA damaging agents and irradiation due to their function in DNA repair. In addition, very high pathological complete re...

    journal_title：Familial cancer

    pub_type： 杂志文章

    doi：10.1007/s10689-008-9223-7

    authors： Hubert A,Mali B,Hamburger T,Rottenberg Y,Uziely B,Peretz T,Kadouri L

    更新日期：2009-01-01 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

  • Chemoprevention in Lynch syndrome.

    abstract：:CAPP1 tested aspirin 600 mg/day and/or resistant starch 30 g/day in 200 adolescent FAP carriers. Aspirin treatment resulted in a non-significant reduction in polyp number and a significant reduction in polyp size among patients treated with aspirin for more than 1 year. CAPP2 RCT used the same interventions in 937 Lyn...

    journal_title：Familial cancer

    pub_type： 杂志文章,多中心研究,随机对照试验

    doi：10.1007/s10689-013-9650-y

    authors： Burn J,Mathers JC,Bishop DT

    更新日期：2013-12-01 00:00:00

  • Cancer in Jews: introduction and overview.

    abstract：:This article is based upon a literature overview of cancer in Jews. It involves a comparison of variation in incidence and prevalence rates between Jews and non-Jews. However, the reader must exercise a certain amount of skepticism when considering secular changes in cancer incidence and prevalence and the public heal...

    journal_title：Familial cancer

    pub_type： 杂志文章,评审

    doi：10.1007/s10689-004-9538-y

    authors： Lynch HT,Rubinstein WS,Locker GY

    更新日期：2004-01-01 00:00:00

  • Identification of a rare germline NBN gene mutation by whole exome sequencing in a lung-cancer survivor from a large family with various types of cancer.

    abstract：:Nijmegen breakage syndrome is an autosomal recessive disorder caused by biallelic mutation in NBN gene. It is characterized by microcephaly, growth retardation, immuno-deficiency and cancer predisposition. The monoallelic carriers of NBN gene are also reported to be at increased risk of developing various types of mal...

    journal_title：Familial cancer

    pub_type： 杂志文章

    doi：10.1007/s10689-016-9954-9

    authors： Marafie MJ,Dashti M,Al-Mulla F

    更新日期：2017-07-01 00:00:00

  • Analysis of 3297 individuals suggests that the pathogenic germline 5'-UTR variant BRCA1 c.-107A > T is not common in south-east Germany.

    abstract：:In this study we aim to determine the prevalence of the recently identified pathogenic BRCA1 variant c.-107A > T in the south-east German population. This variant causes the epigenetic silencing of the BRCA1 promotor and has been detected in two independent families from the UK without a germline BRCA1 or BRCA2 pathog...

    journal_title：Familial cancer

    pub_type： 杂志文章

    doi：10.1007/s10689-020-00175-4

    authors： Laner A,Benet-Pages A,Neitzel B,Holinski-Feder E

    更新日期：2020-07-01 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...

    journal_title：Familial cancer

    pub_type： 杂志文章

    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

  • Prophylactic oophorectomy in Ontario.

    abstract：OBJECTIVE:To determine the indications, patterns of practice, and complication rates for prophylactic oophorectomy in Ontario. METHODS:From hospital discharge abstracts, 82 hospitals were identified where at least one patient had a prophylactic oophorectomy since 1992. Ethics approval for the chart review was obtained...

    journal_title：Familial cancer

    pub_type： 杂志文章,多中心研究

    doi：10.1023/a:1021174604905

    authors： Elit L,Rosen B,Goel V,McLaughlin J,Fung MK,Shime J,Narod S

    更新日期：2001-01-01 00:00:00

  • Communicating genetic test results within the family: Is it lost in translation? A survey of relatives in the randomized six-step study.

    abstract：:Genetic testing for cancer susceptibility genes is increasingly being integrated into medical care. Test results help inform risks of the individual being tested as well as family members who could benefit from knowing the results. The responsibility for informing relatives of genetic test results falls on the proband...

    journal_title：Familial cancer

    pub_type： 杂志文章,随机对照试验

    doi：10.1007/s10689-016-9889-1

    authors： Daly MB,Montgomery S,Bingler R,Ruth K

    更新日期：2016-10-01 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...

    journal_title：Familial cancer

    pub_type： 杂志文章,评审

    doi：10.1007/s10689-020-00225-x

    authors： Vasen HFA

    更新日期：2021-01-19 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

  • Hereditary medullary thyroid carcinoma syndromes: experience from western India.

    abstract：:The data from the Indian subcontinent on Medullary thyroid carcinoma (MTC) and associated endocrinopathies in hereditary MTC (HMTC) syndromes are limited. Hence, we analyzed clinical and biochemical characteristics, management, and outcomes of HMTC and other associated endocrinopathies [Pheochromocytoma (PCC) and Prim...

    journal_title：Familial cancer

    pub_type： 杂志文章

    doi：10.1007/s10689-020-00219-9

    authors： Diwaker C,Sarathi V,Jaiswal SK,Shah R,Deshmukh A,Thomas AE,Prakash G,Malhotra G,Patil V,Lila A,Shah N,Bandgar T

    更新日期：2021-01-04 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...

    journal_title：Familial cancer

    pub_type： 杂志文章,评审

    doi：10.1007/s10689-012-9570-2

    authors： Knopperts AP,Nielsen M,Niessen RC,Tops CM,Jorritsma B,Varkevisser J,Wijnen J,Siezen CL,Heine-Bröring RC,van Kranen HJ,Vos YJ,Westers H,Kampman E,Sijmons RH,Hes FJ

    更新日期：2013-03-01 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

  • High frequency of BRCA1 founder mutations in Polish women with nonfamilial breast cancer.

    abstract：:Possession of a BRCA1/2 mutation increases risk of contralateral breast and ovarian cancer recurrence and may have an impact on health management decisions, such as imaging screening, preventive surgical interventions and systemic therapies. A hospital-based study was conducted to assess the frequency and spectrum of ...

    journal_title：Familial cancer

    pub_type： 杂志文章

    doi：10.1007/s10689-012-9560-4

    authors： Gaj P,Kluska A,Nowakowska D,Bałabas A,Piątkowska M,Dabrowska M,Niwińska A,Ostrowski J

    更新日期：2012-12-01 00:00:00

  • Restorative proctocolectomy and ileal pouch-anal anastomosis for familial adenomatous polyposis revisited.

    abstract：:Since restorative proctocolectomy (RPC) with ileal-pouch anal anastomosis (IPAA) removes the entire diseased mucosa, it has become firmly established as the standard operative procedure of choice for familial adenomatous polyposis (FAP). Many technical controversies still persist, such as mesenteric lengthening techni...

    journal_title：Familial cancer

    pub_type： 杂志文章,评审

    doi：10.1007/s10689-005-5672-4

    authors： Kartheuser A,Stangherlin P,Brandt D,Remue C,Sempoux C

    更新日期：2006-01-01 00:00:00

  • Genetic counseling and clinical management of newly diagnosed breast cancer patients at genetic risk for BRCA germline mutations: perspective of a surgical oncologist.

    abstract：:Women with a family history of breast cancer who are diagnosed with breast cancer are often counseled to undergo prophylactic mastectomy as part of their treatment for breast cancer. The majority of such individuals make these decisions in haste and without appropriate genetic counseling or testing. Most of them when ...

    journal_title：Familial cancer

    pub_type： 杂志文章

    doi：10.1007/s10689-007-9167-3

    authors： Silva E

    更新日期：2008-01-01 00:00:00

  • Exploring the preferences of involved health professionals regarding the implementation of an online decision aid to support couples during reproductive decision-making in hereditary cancer: a mixed methods approach.

    abstract：:To support persons having a genetic predisposition to cancer and their partners during reproductive decision-making, an online decision aid was developed and evaluated. To maximize the impact of the support tool, this mixed methods study aims at developing the optimal implementation strategy for the decision aid. A qu...

    journal_title：Familial cancer

    pub_type： 杂志文章

    doi：10.1007/s10689-019-00119-7

    authors： Reumkens K,de Die-Smulders CEM,van Osch LADM

    更新日期：2019-04-01 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...

    journal_title：Familial cancer

    pub_type： 杂志文章

    doi：10.1007/s10689-012-9526-6

    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

  • 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

  • The TP53 mutational spectrum and frequency of CHEK2*1100delC in Li-Fraumeni-like kindreds.

    abstract：:Li-Fraumeni syndrome (LFS) is a dominantly inherited cancer predisposition syndrome characterized by a wide spectrum of neoplasms occurring at young age. Germline mutations in the TP53 tumor suppressor gene have been identified in approximately 71 of LFS patients and 22 of Li-Fraumeni-like (LFL) patients. Mutations wi...

    journal_title：Familial cancer

    pub_type： 杂志文章

    doi：10.1007/s10689-004-1946-5

    authors： Siddiqui R,Onel K,Facio F,Nafa K,Diaz LR,Kauff N,Huang H,Robson M,Ellis N,Offit K

    更新日期：2005-01-01 00:00:00

  • Clinical interpretation of pathogenic ATM and CHEK2 variants on multigene panel tests: navigating moderate risk.

    abstract：:Comprehensive genomic cancer risk assessment (GCRA) helps patients, family members, and providers make informed choices about cancer screening, surgical and chemotherapeutic risk reduction, and genetically targeted cancer therapies. The increasing availability of multigene panel tests for clinical applications allows ...

    journal_title：Familial cancer

    pub_type： 杂志文章

    doi：10.1007/s10689-018-0070-x

    authors： West AH,Blazer KR,Stoll J,Jones M,Weipert CM,Nielsen SM,Kupfer SS,Weitzel JN,Olopade OI

    更新日期：2018-10-01 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

  • Desmoid tumors -- a characterization of patients seen at Mayo Clinic 1976-1999.

    abstract：:Desmoid tumors occur with high frequency in individuals with Familial Adenomatous Polyposis (FAP). Because of this, individuals developing desmoid tumors may be referred for genetic risk assessment. Determining whether a person has a FAP-related desmoid tumor or a sporadic desmoid can be challenging. We sought to char...

    journal_title：Familial cancer

    pub_type： 杂志文章

    doi：10.1007/s10689-005-5959-5

    authors： Fallen T,Wilson M,Morlan B,Lindor NM

    更新日期：2006-01-01 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

  • 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

    doi：10.1007/s10689-012-9596-5

    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

  • Co-occurrence of Lynch syndrome and juvenile polyposis syndrome confirmed by multigene panel testing.

    abstract：:Through germline multigene panel testing, we discovered the co-occurrence of Lynch syndrome due to a PMS2 mutation and juvenile polyposis syndrome due to a BMPR1A mutation in a young man with synchronous bladder and colorectal cancers and a family history of colorectal polyps. To our knowledge, this is the first repor...

    journal_title：Familial cancer

    pub_type： 杂志文章

    doi：10.1007/s10689-017-0012-z

    authors： Silva-Smith R,Sussman DA

    更新日期：2018-01-01 00:00:00

  • Does and should breast cancer genetic counselling include lifestyle advice?

    abstract：:To optimally inform counselees about their and their relatives' risks, information about lifestyle risk factors, e.g. physical activity and alcohol consumption, might be discussed in breast cancer genetic counselling. This study explored whether lifestyle was discussed, on whose initiative, whether information and/or ...

    journal_title：Familial cancer

    pub_type： 杂志文章

    doi：10.1007/s10689-013-9672-5

    authors： Albada A,Vernooij M,van Osch L,Pijpe A,van Dulmen S,Ausems MG

    更新日期：2014-03-01 00:00:00

  • Inequities in multi-gene hereditary cancer testing: lower diagnostic yield and higher VUS rate in individuals who identify as Hispanic, African or Asian and Pacific Islander as compared to European.

    abstract：:The identification of germline pathogenic/likely pathogenic (P/LP) variants in cancer predisposition genes can guide treatment and management decisions for the individual being tested and potentially at-risk relatives. Prior studies have raised concerns of racial/ethnic disparities in the detection rates of P/LP varia...

    journal_title：Familial cancer

    pub_type： 杂志文章

    doi：10.1007/s10689-019-00144-6

    authors： Ndugga-Kabuye MK,Issaka RB

    更新日期：2019-10-01 00:00:00