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-sister) and related to histopathological tumor type, presence of germline mutations, bilaterality, multifocality, screening, parity, hormone replacement therapy (HRT) use and age at diagnosis. Prognosis was estimated by also adding tumor size, lymph node status, distant metastases and hormone receptor status at diagnosis into a Cox proportional hazard model. Excluding mutations carriers, a horizontal family history (5% of all cases) was significantly associated with tubular tumor type [OR = 3.87(1.44-10.41)]. A vertical family history (23% of all cases) was significantly related to tumor multifocality [OR = 2.30(1.51-3.50)], tumor bilaterality [OR = 2.08(1.44-3.00)] and screening detection [OR = 1.50(1.10-2.05)]. No significant difference in survival could be seen between patients with none, horizontal or vertical family history. However, germline mutation carriers (BRCA1/2, TP53 or CDKN2A, present in 0.95% of the cases) had a significantly worse survival. Screening detected cases, HRT ever users and patients with estrogen receptor positive tumors had a significantly better survival adjusting for age at diagnosis, tumor size, lymph node status and presence of distant metastases at diagnosis. Factors associated with a horizontal family history were found, defining a possible phenotype for a recessive inheritance: tubular breast cancer.
journal_name
Fam Cancerjournal_title
Familial cancerauthors
Ellberg C,Jönsson G,Olsson Hdoi
10.1007/s10689-010-9355-4subject
Has Abstractpub_date
2010-12-01 00:00:00pages
525-30issue
4eissn
1389-9600issn
1573-7292journal_volume
9pub_type
杂志文章相关文献
Familial Cancer文献大全abstract::Lynch Syndrome (LS) is a cancer susceptibility syndrome caused mostly by mutations in the mismatch repair genes, hMLH1, hMSH2 and hMSH6. Mutation carriers are at risk of colorectal and endometrial cancer and, less frequently, cancer of the ovaries, stomach, small bowel, hepatobiliary tract, ureter, renal pelvis and br...
journal_title:Familial cancer
pub_type: 杂志文章
doi:10.1007/s10689-010-9334-9
更新日期:2010-09-01 00:00:00
abstract::Treatment of nasopharyngeal carcinoma (NPC) can be improved by early detection of the disease as treatment outcome worsens with disease's progression. This can be achieved with a mass screening program using Epstein Barr virus (EBV) serology and nasopharyngoscopy. The efficacy of any screening strategy should be evalu...
journal_title:Familial cancer
pub_type: 杂志文章
doi:10.1007/s10689-010-9397-7
更新日期:2011-03-01 00:00:00
abstract::In rare cases the diagnosis of Familial Adenomatous Polyposis (FAP) may not be simple or straightforward. We describe the case of a 54-year man in whom endoscopic and histological features of FAP led to proctocolectomy with ileoanal anastomosis. At anatomical examination, air-filled cystic formations in the submucosa ...
journal_title:Familial cancer
pub_type: 杂志文章
doi:10.1007/s10689-012-9587-6
更新日期:2013-09-01 00:00:00
abstract::Germline mutations in the BRCA1 tumor suppressor gene predispose affected individuals to breast cancer; however, incomplete cancer penetrance and the presence of phenocopies in BRCA1 families also indicate genetic and environmental modifiers of breast cancer risk. In this study, we have tested the single nucleotide po...
journal_title:Familial cancer
pub_type: 杂志文章
doi:10.1007/s10689-013-9647-6
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
pub_type: 杂志文章
doi:10.1007/s10689-020-00191-4
更新日期:2020-06-06 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
pub_type: 杂志文章
doi:10.1007/s10689-011-9478-2
更新日期:2012-03-01 00:00:00
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
更新日期:2009-01-01 00:00:00
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
更新日期:2007-01-01 00:00:00
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
doi:10.1007/s10689-017-9997-6
更新日期:2018-01-01 00:00:00
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
doi:10.1007/s10689-010-9359-0
更新日期:2010-12-01 00:00:00
abstract::Prediction models for the identification of Lynch syndrome have been developed to quantify an individual's risk of carrying a mismatch repair gene mutation and help clinicians decide for whom further risk assessment and genetic testing is necessary. There are diverse clinical settings in which a healthcare provider ha...
journal_title:Familial cancer
pub_type: 杂志文章,评审
doi:10.1007/s10689-013-9632-0
更新日期:2013-06-01 00:00:00
abstract::Germline variants in the APC and MUTYH genes contribute to colorectal cancer (CRC) and adenoma risk, though may occur with varying frequencies in individuals of different ancestries. The aim of this study was to evaluate the prevalence of APC, monoallelic MUTYH and biallelic MUTYH germline variants in Ashkenazi Jewish...
journal_title:Familial cancer
pub_type: 杂志文章
doi:10.1007/s10689-020-00198-x
更新日期:2020-08-03 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
pub_type: 杂志文章
doi:10.1007/s10689-010-9411-0
更新日期:2011-06-01 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
pub_type: 杂志文章
doi:10.1007/s10689-011-9468-4
更新日期:2011-12-01 00:00:00
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
更新日期:2006-01-01 00:00:00
abstract::Small cell carcinoma of the ovary, hypercalcemic type, (SCCOHT) is the most common undifferentiated ovarian cancer in women aged under 40 years. SCCOHT is a monogenic disease, characterized by germline and somatic SMARCA4 mutations. Recent studies have stressed its morphological and clinical similarity to malignant rh...
journal_title:Familial cancer
pub_type: 杂志文章
doi:10.1007/s10689-016-9957-6
更新日期:2017-07-01 00:00:00
abstract::Family history of melanoma is a major melanoma risk factor. However, self-reported family histories for some cancers, including melanoma, are commonly inaccurate. We used a unique database, the Utah Population Database (UPDB), as well as the Utah Cancer Registry to determine the accuracy of self-reported family histor...
journal_title:Familial cancer
pub_type: 杂志文章
doi:10.1007/s10689-020-00187-0
更新日期:2020-05-21 00:00:00
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
更新日期:2016-07-01 00:00:00
abstract::The myeloproliferative neoplasms (MPN) are clonal, hematological malignancies that include polycythemia vera, essential thrombocythemia and primary myelofibrosis. While most cases of MPN are sporadic in nature, a familial pattern of inheritance is well recognised. The phenotype and status of the commonly acquired JAK2...
journal_title:Familial cancer
pub_type: 杂志文章
doi:10.1007/s10689-014-9743-2
更新日期:2014-12-01 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
pub_type: 杂志文章,多中心研究
doi:10.1007/s10689-006-0006-8
更新日期:2006-01-01 00:00:00
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
更新日期:2013-12-01 00:00:00
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...
journal_title:Familial cancer
pub_type: 杂志文章
doi:10.1007/s10689-016-9899-z
更新日期:2016-10-01 00:00:00
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
更新日期:2020-07-01 00:00:00
abstract::MicroRNAs are a new class of non-proteincoding, small RNAs that function as tumor suppressors or oncogenes. They participate in diverse biological pathways and function as gene regulators. A G>C polymorphism (rs2910164), which is located in the sequence of miR-146a precursor, results in a change from G:U to C:U in its...
journal_title:Familial cancer
pub_type: 杂志文章
doi:10.1007/s10689-010-9370-5
更新日期:2010-12-01 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
pub_type: 杂志文章
doi:10.1007/s10689-011-9417-2
更新日期:2011-06-01 00:00:00
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
更新日期:2019-04-01 00:00:00
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
doi:10.1007/s10689-016-9910-8
更新日期:2016-10-01 00:00:00
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
doi:10.1007/s10689-010-9364-3
更新日期:2010-12-01 00:00:00
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
更新日期:2014-03-01 00:00:00
abstract::Biallelic pathogenic variants (PVs) in MUTYH cause MUTYH-Associated Polyposis (MAP), which displays phenotypic overlap with other hereditary colorectal cancer (CRC) syndromes including Familial Adenomatous Polyposis (FAP) and Lynch syndrome. We report the phenotypic spectrum of MAP in the context of multi-gene heredit...
journal_title:Familial cancer
pub_type: 杂志文章
doi:10.1007/s10689-018-00116-2
更新日期:2019-04-01 00:00:00