Abstract:
:Germline BRCA mutations account for a significant proportion of genetic/familial risk of breast and ovarian cancer (GBOC) susceptibility, but a broader spectrum of GBOC susceptibility genes has emerged in recent years. Genotype-to-phenotype correlations are known for some established forms of GBOC; however, whether such correlations exist for less common GBOC variants is unclear. We reviewed our institution's experience with non-BRCA GBOC, looking specifically for trends in pathologic and clinical features. Eighteen women with deleterious germline mutations in RAD51C (5 patients), BARD1 (1 patient), BRIP1 (2 patients), PALB2 (3 patients), MUTYH (2 patients), or CHEK2 (5 patients) were identified between January 2011 and December 2016. Thirteen (72%) of 18 patients developed carcinoma of the breast, fallopian tube, or ovary, with 1 patient developing 2 separate primary neoplasms. Twelve (86%) of 14 tumors occurred in the breast. One (7%) arose in the fallopian tube and another (7%) arose in the ovary. Evidence of genotype-phenotype correlation was not identified. However, some data suggest that the type of alteration in select genes may influence tumor behavior and patient outcome. In our PALB2 mutation cohort, 2 patients with frameshift mutations led to early onset and rapid progression to stage IV breast cancer in contrast to stage IA breast cancer in 1 patient with a nonsense mutation. Despite no apparent genotype-phenotype trends, our data indicate that some loss-of-function variants in PALB2 may lead to differences in tumor behavior and patient outcome.
journal_name
Hum Patholjournal_title
Human pathologyauthors
Schoolmeester JK,Moyer AM,Goodenberger ML,Keeney GL,Carter JM,Bakkum-Gamez JNdoi
10.1016/j.humpath.2017.06.018subject
Has Abstractpub_date
2017-12-01 00:00:00pages
14-26eissn
0046-8177issn
1532-8392pii
S0046-8177(17)30240-Xjournal_volume
70pub_type
杂志文章相关文献
HUMAN PATHOLOGY文献大全abstract::Mutually exclusive histone 3.3 gene mutations have been recognized in chondroblastoma and giant cell tumor of bone (GCTB), which may be useful for differential diagnostic purposes in morphologically ambiguous cases. Although more than 90% of GCTBs present histone 3.3 variants exclusively in the H3F3A gene, chondroblas...
journal_title:Human pathology
pub_type: 杂志文章
doi:10.1016/j.humpath.2017.08.033
更新日期:2017-10-01 00:00:00
abstract::Heterotopic pancreatic parenchyma recapitulates the normal pancreas in extrapancreatic locations and, on rare occasions, can even give rise to pancreatic adenocarcinoma. The genetic signatures of pancreatic adenocarcinoma and its precursor lesions are well characterized. We explored the genetic alterations in precurso...
journal_title:Human pathology
pub_type: 杂志文章
doi:10.1016/j.humpath.2015.09.023
更新日期:2016-02-01 00:00:00
abstract::This study explored the importance of hepatitis B virus infection in cholangiocarcinoma pathogenesis in northern China. The clinical data of 66 patients with cholangiocarcinoma were analyzed. The hepatitis B virus gene was amplified using nested polymerase chain reaction, and the hepatitis B virus-related antigen was ...
journal_title:Human pathology
pub_type: 杂志文章
doi:10.1016/j.humpath.2011.04.004
更新日期:2012-01-01 00:00:00
abstract::Four different genetic abnormalities may occur in endometrioid adenocarcinomas of the endometrium (mircosatellite instability and mutations in the PTEN, k-RAS and beta-catenin genes), whereas nonendometrioid carcinomas of the endometrium often have p53 mutations and loss of heterozygosity on several chromosomes. Occas...
journal_title:Human pathology
pub_type: 杂志文章,评审
doi:10.1053/hupa.2001.25929
更新日期:2001-06-01 00:00:00
abstract::Enteroendocrine cell dysgenesis was observed in 3 patients with intestinal failure of unknown cause. Enteroendocrine cell dysgenesis is a congenitally acquired life-threatening malabsorptive condition with a unique clinical phenotype paired with a histologically identifiable disease pattern. Two cases were first prese...
journal_title:Human pathology
pub_type: 杂志文章
doi:10.1016/j.humpath.2006.10.014
更新日期:2007-04-01 00:00:00
abstract::Dysplastic nevi are an important indicator of risk of cutaneous malignant melanoma. The study of and, particularly, international communication regarding this group of lesions have been hindered by a lack of precision in diagnosis. In an effort to broaden understanding, a panel of pathologists agreed upon a set of cri...
journal_title:Human pathology
pub_type: 杂志文章
doi:10.1016/0046-8177(91)90078-4
更新日期:1991-04-01 00:00:00
abstract::Patients undergoing treatment of acute lymphoblastic leukemia are at risk for fungal infections including disseminated candidiasis. We describe a case of systemic Candida albicans infection associated with life-threatening gastrointestinal hemorrhage due to unusual necrotizing vasculitis involving the gastrointestinal...
journal_title:Human pathology
pub_type: 杂志文章
doi:10.1016/j.humpath.2009.09.015
更新日期:2010-04-01 00:00:00
abstract::Fluorescence in situ hybridization, loss of heterozygosity testing, and comparative genomic hybridization have been used to detect NF2 gene alterations in both sporadic and neurofibromatosis type 2 (NF2)-associated central nervous system tumors. In this study, we performed chromogenic in situ hybridization (CISH) and ...
journal_title:Human pathology
pub_type: 杂志文章
doi:10.1016/j.humpath.2007.01.027
更新日期:2007-09-01 00:00:00
abstract::Five hundred eighty renal biopsies from a pool of 27850 archived cases were identified in which a myoglobin stain was performed because of atypical casts. Two hundred and thirty-eight (41%) of these biopsies were found to be positive for myoglobin casts. The morphology of the myoglobin casts ranged from light, almost ...
journal_title:Human pathology
pub_type: 杂志文章
doi:10.1016/j.humpath.2016.02.026
更新日期:2016-08-01 00:00:00
abstract::Focal adhesion kinase (FAK) is one of the central signaling molecules found at focal adhesion sites, which are specific areas on the cell membrane where cells attach to extracellular matrix proteins. Focal adhesion kinase interacts with multiple signaling and adaptor molecules and effects several signaling pathways. O...
journal_title:Human pathology
pub_type: 杂志文章
doi:10.1016/j.humpath.2005.09.024
更新日期:2006-01-01 00:00:00
abstract::Cell growth in the normal prostate is regulated by a delicate balance between cell death and cell proliferation (ie, apoptotic v proliferative activity). Disruption of the molecular mechanisms that regulate these two processes may underline the abnormal growth of the gland leading to benign prostatic hyperplasia (BPH)...
journal_title:Human pathology
pub_type: 杂志文章
doi:10.1016/s0046-8177(96)90396-2
更新日期:1996-07-01 00:00:00
abstract::A case of thymoma with associated opportunistic infections, CD4/CD8 T-lymphocyte imbalance, low CD4-positive T-lymphocyte counts and Kaposi's sarcoma (KS) without HIV infection is reported. Cytomegalovirus inclusions were identified in the nuclei of some KS spindle and endothelial cells. It is known that KS has a high...
journal_title:Human pathology
pub_type: 杂志文章
doi:10.1016/s0046-8177(97)90261-6
更新日期:1997-10-01 00:00:00
abstract::Human papillomavirus (HPV) types 16 and 18 are strongly implicated in the generation of progressive cervical neoplasms. The viruses produce complex families of overlapping messenger RNAs that are linked to differentiation, making it necessary to analyze gene expression in the context of morphology. We have developed H...
journal_title:Human pathology
pub_type: 杂志文章
doi:10.1016/0046-8177(92)90232-r
更新日期:1992-02-01 00:00:00
abstract::A large mass in the right orbit, causing proptosis, ptosis of the right upper eyelid, and limitation to eye movements, was surgically removed from a 51-year-old woman suffering from Paget's bone disease (PBD). Histologically, a giant cell tumor of the bone (osteoclastoma) was diagnosed. No bony involvement was apparen...
journal_title:Human pathology
pub_type: 杂志文章
doi:10.1053/hupa.2000.20411
更新日期:2000-12-01 00:00:00
abstract::Studies on melanoma cell lines indicate the expression of actin-binding protein (ABP), a peripheral cytoplasmic protein that crosslinks actin, is important for melanoma cell motility. We used an ABP-specific monoclonal antibody to characterize ABP expression in 18 benign nevi and 28 primary and metastatic malignant me...
journal_title:Human pathology
pub_type: 杂志文章
doi:10.1016/0046-8177(94)90305-0
更新日期:1994-07-01 00:00:00
abstract::Epithelial-mesenchymal transition (EMT) is known to play an important role in breast cancer invasion and metastatic progression. However, the pattern of expression of EMT markers in the progression from in situ to invasive breast carcinoma is not clear. To investigate this, we performed immunohistochemical analyses of...
journal_title:Human pathology
pub_type: 杂志文章
doi:10.1016/j.humpath.2013.07.003
更新日期:2013-11-01 00:00:00
abstract::Serous surface carcinoma (SSC) is a neoplasm histologically indistinguishable from typical serous carcinomas that arise from the ovary but has a distinct clinical presentation. It is characterized by widespread peritoneal dissemination at presentation, but the ovaries are grossly normal in size and shape. If the carci...
journal_title:Human pathology
pub_type: 杂志文章
doi:10.1016/s0046-8177(99)90277-0
更新日期:1999-02-01 00:00:00
abstract::We applied a panel of antibodies to formalin-fixed, paraffin-embedded sections of 55 renal cell carcinomas using a three-stage immunoperoxidase technique. The antibody panel included two anti-keratins, AE1 and CAM5.2, anti-epithelial membrane antigen (EMA), anti-vimentin, anti-S100 protein, and the anti-leukocyte mark...
journal_title:Human pathology
pub_type: 杂志文章
doi:10.1016/s0046-8177(88)80016-9
更新日期:1988-08-01 00:00:00
abstract::Glomerulonephritis (GN) characterized by immune complex deposits typical of postinfectious GN but with a paucity or absence of overt clinical symptoms and/or urinary abnormalities may occur after a group A streptococcus infection. The overall incidence of this type of subclinical GN is not known. To address this quest...
journal_title:Human pathology
pub_type: 杂志文章
doi:10.1053/hupa.2003.53
更新日期:2003-01-01 00:00:00
abstract::A 48-year-old man with a history of recurrent urolithiasis and chronic renal failure underwent a nephrectomy for a renal mass. At surgery the mass proved to be a calculus impacted in a dilated calyx. Gross examination of the kidney revealed chalky white deposits in the deep medulla and papillary tips. Histologic exami...
journal_title:Human pathology
pub_type: 杂志文章
doi:10.1016/0046-8177(92)90273-6
更新日期:1992-09-01 00:00:00
abstract::Congenital cystic adenomatoid malformation (CCAM) of the lung is a congenital lesion that is sometimes complicated by bronchioloalveolar adenocarcinoma (BAC). In some cases foci of atypical goblet cell hyperplasia (AGCH) can be found within the cysts. It has been proposed that CCAM and AGCH predispose to the developme...
journal_title:Human pathology
pub_type: 杂志文章
doi:10.1016/j.humpath.2004.01.008
更新日期:2004-05-01 00:00:00
abstract::Increasing differentiation in the human endometrium is associated with an apparent decrease in intercellular contacts between endometrial stromal cells ...
journal_title:Human pathology
pub_type: 杂志文章
doi:10.1016/0046-8177(90)90257-6
更新日期:1990-10-01 00:00:00
abstract::Adenomatous hyperplasia, a hyperplastic parenchymal nodule in the cirrhotic liver, has been presumed to be a preneoplastic lesion in human hepatocarcinogenesis. In this study, phenotypes of the sinusoidal endothelium were examined in adenomatous hyperplasia, hepatocellular carcinoma, cirrhosis, chronic active hepatiti...
journal_title:Human pathology
pub_type: 杂志文章
doi:10.1016/0046-8177(91)90136-d
更新日期:1991-05-01 00:00:00
abstract::The immunotherapeutic treatment of cancers using antibodies (naked or conjugated to a drug, toxin, or radionuclide) relies upon the preferential expression of a targeted antigen on the cancer cell compared to normal tissues. Polyclonal antiferritin antisera have shown selective distribution and therapeutic efficacy wh...
journal_title:Human pathology
pub_type: 杂志文章
doi:10.1053/hupa.2003.62
更新日期:2003-04-01 00:00:00
abstract::Three cases of veno-occlusive disease of the liver were diagnosed in four autopsied patients who had received high-dose mitomycin C therapy followed by autologous bone marrow transplantation, and the pathologic finding are reported. Review of 27 liver, examined post mortem, of patients receiving other high-dose chemot...
journal_title:Human pathology
pub_type: 杂志文章
doi:10.1016/s0046-8177(82)80008-7
更新日期:1982-07-01 00:00:00
abstract::Medical culture espouses patient interaction based on detached concern, where emotional attachment to patients is attenuated to preserve objectivity. The body is viewed as nonliving matter in motion. Alternatively, the cadaver may be considered a gift. To receive so awesome a gift is an extraordinary privilege; acknow...
journal_title:Human pathology
pub_type: 杂志文章
doi:10.1016/0046-8177(95)90216-3
更新日期:1995-07-01 00:00:00
abstract::Giant cell tumor of tendon sheath (GCTTS) is a common soft tissue tumor. Immunophenotypical evidence suggests it is of synovial cell origin. There is controversy regarding the underlying nature of this lesion, specifically whether it is a neoplastic or nonneoplastic (ie, reactive or hyperplastic) process. Karyotypic a...
journal_title:Human pathology
pub_type: 杂志文章
doi:10.1016/s0046-8177(97)90155-6
更新日期:1997-07-01 00:00:00
abstract::Ciliated metaplasia (CM) of gastric mucosa is common in Japanese individuals but rare in whites. We studied 36 consecutive gastrectomies from Chinese individuals for the presence of CM. The gastrectomies were performed for adenocarcinoma (n = 22), benign ulcer (n = 13), and malignant lymphoma (n = 1). Ciliated metapla...
journal_title:Human pathology
pub_type: 杂志文章
doi:10.1016/0046-8177(93)90191-i
更新日期:1993-10-01 00:00:00
abstract::Proliferating cell nuclear antigen (PCNA) and c-myc p62 oncoprotein are two nuclear proteins expressed in proliferating and transformed cells. They can be recognized immunohistochemically in paraffin sections by the monoclonal antibodies PC-10 and c-myc 1-9E10, respectively. On the other hand, nucleolar organizer regi...
journal_title:Human pathology
pub_type: 杂志文章
doi:10.1016/0046-8177(93)90084-t
更新日期:1993-04-01 00:00:00
abstract::This article considers the NHS cervical screening program and the controversies which have attended the introduction of comprehensive screening in a partially screened population of women in whom the underlying risk of disease was unknown. The increase in screening coverage which has taken place since 1988 has coincid...
journal_title:Human pathology
pub_type: 杂志文章,评审
doi:10.1016/s0046-8177(97)90094-0
更新日期:1997-02-01 00:00:00