Six families prone to ovarian cancer

Fraumeni, Joseph F.; Grundy, Gordon W.; Creagan, Edward T.; Everson, Richard B.

doi:10.1002/1097-0142(197508)36:2<364::aid-cncr2820360211>3.0.co;2-c

Cited by 75 publications

(8 citation statements)

References 17 publications

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“…Since the report of fallopian tube carcinoma in the 48-yearold proband of one of the first two families in which pedigree analysis was used by Lynch et al (1974) to establish the familial association of breast and ovarian cancers, as well as the confirming report of fallopian tube cancer by history in a 42year-old member of a breast-ovarian cancer family by Fraumeni et al (1975) just one year later, it has become increasingly evident that primary fallopian tube carcinoma is an integral cancer in the HBOC syndrome and these cancers are associated with germline mutations in BRCA1 and BRCA2 (Agoff et al, 2002;Aziz et al, 2001;Casarsa et al, 2004;Cass et al, 2005;Colgan et al, 2001;Friedman et al, 1995;Hartley et al, 2000;Hé bert-Blouin et al, 2002;Jongsma et al, 2002;Lamb et al, 2006;Leeper et al, 2002;Levine et al, 2003;Maehle et al, 2008;Medeiros et al, 2006;Meeuwissen et al, 2005;Olivier et al, 2004;Paley et al, 2001;Peyton-Jones et al, 2002;Piek et al, 2003a;Powell et al, 2005;Rose et al, 2000;Scheuer et al, 2002;Schubert et al, 1997;Simard et al, 1994;The Breast Cancer Linkage Consortium, 1999;Tong et al, 1999;Tonin et al, 1995;Zweemer et al, 2000). Brose et al (2002) estimated that there is a 120-fold increased lifetime risk for fallopian tube cancer in BRCA1 mutation carriers.…”

Section: Prophylactic Bilateral Salpingo-oophorectomymentioning

confidence: 99%

Hereditary ovarian carcinoma: Heterogeneity, molecular genetics, pathology, and management

et al. 2009

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Hereditary ovarian cancer accounts for at least 5% of the estimated 22,000 new cases of this disease during 2009. During this same time, over 15,000 will die from malignancy ascribed to ovarian origin. The bulk of these hereditary cases fits the hereditary breast-ovarian cancer syndrome, while virtually all of the remainder will be consonant with the Lynch syndrome, disorders which are autosomal dominantly inherited. Advances in molecular genetics have led to the identification of BRCA1 and BRCA2 gene mutations which predispose to the hereditary breast-ovarian cancer syndrome, and mutations in mismatch repair genes, the most common of which are MSH2 and MLH1, which predispose to Lynch syndrome. These discoveries enable relatively certain diagnosis, limited only by their variable penetrance, so that identification of mutation carriers through a comprehensive cancer family history might be possible. This paper reviews the subject of hereditary ovarian cancer, with particular attention to its molecular genetic basis, its pathology, and its phenotypic/genotypic heterogeneity.

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Section: Prophylactic Bilateral Salpingo-oophorectomymentioning

confidence: 99%

Hereditary ovarian carcinoma: Heterogeneity, molecular genetics, pathology, and management

et al. 2009

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“…This latter study provided evidence that the risk of epithelial ovarian cancer may be associated with history of colon cancer, lung cancer, and prostate cancer in first-degree relatives. Although no case-control study reported to date has found a statistically significant association between family history of breast cancer and the risk of epithelial ovarian cancer, reports of cancer families have led to speculation that there may be a familial cancer syndrome involving cancer of the ovary and breast [Fraumeni et al, 1975;Lynch et al, 19821. A familial syndrome involving epithelial cancer of the ovary as well as other adenocarcinomas, such as colon and endometrial cancer, has also been proposed [Lynch et al, 19821.…”

Section: Introductionmentioning

confidence: 99%

Relationship of epithelial ovarian cancer to other malignancies within families

Schildkraut

Thompson

Vogler³

et al. 1988

Genetic Epidemiology

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The relationship of family history of cancer of the breast, colon/rectum, cervix, endometrium, lung, and thyroid to the risk of epithelial ovarian cancer was investigated in a large population-based case-control study. The data consisted of family histories from 493 epithelial ovarian cancer cases and 2,465 controls aged 20-54 years. After controlling for potential confounders, risk for epithelial ovarian cancer was found to be significantly elevated among women reporting breast cancer and colo/rectal cancer in a first-degree relative. Adjusted odds ratios were 1.5 (95% CI = 1.1-2.1) and 1.9 (95% CI = 1.1-3.3), respectively. None of the remaining four types of cancer was found to be statistically associated with the risk of epithelial ovarian cancer. However, when histologic subtypes of epithelial ovarian cancer were considered, a family history of breast cancer was found to be associated with an elevated risk of endometrioid ovarian cancer (odds ratio = 2.3; 95% CI = 1.1-4.7), as was a family history of endometrial cancer (odds ratio = 2.7; 95% CI = 1.0-6.9). The results are considered in the context of other studies of familial patterns of cancer and are compared with published findings concerning the occurrence of multiple primary cancers in the same individual. The findings indicate that further study is warranted regarding possible genetic relationships between epithelial ovarian cancer and cancers arising in other organs.

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“…Prophylactic oophorectomy after childbearing has been recommended, whereas no other method currently allows identification of the women at risk. 8,9,11,18,19 As the risk is as high as 50% for families where the inheritance is thought to be an autosomal dominant gene with variable penetrance, then prophylactic oophorectomy with careful inspection of the up- priate choice for such women on completion of their families.…”

Section: Discussionmentioning

confidence: 99%

Patterns of inheritance of ovarian cancer. An analysis from an ovarian cancer screening program

Grover

Quinn

Weideman

1993

Cancer

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Background. A variety of inheritance patterns for familial ovarian cancer have been proposed including an autosomal dominant inheritance, a breast—ovary cancer syndrome and Lynch Cancer Family Syndrome (involving breast, bowel, ovary, and endometrial cancers). Methods. Women participating in an ovarian cancer screening study completed a questionnaire concerning their family history of ovarian and other malignancies (in particular breast, bowel, and endometrial cancer). Confirmation of the diagnosis was sought when there was uncertainty. Results. Two hundred forty women with a first‐degree relative with ovarian cancer participated in the study. Nine percent of these women (representing 13 families) gave a definite history of two or more affected first‐degree relatives. Two families had a pedigree consistent with an autosomal dominant inheritance. A breast—ovary cancer family and a Lynch cancer family syndrome were suspected in one family each, although 34% of all women gave a history of at least one other first‐degree relative with either breast, bowel, or endometrial cancer. Conclusions. Only a small number of women with a family history of ovarian cancer fit into the recognized hereditary patterns. Difficulty in recognizing the inheritance patterns and the lack of definitive genetic markers poses problems in providing adequate counseling regarding screening and prophylactic oophorectomy.

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Six families prone to ovarian cancer

Cited by 75 publications

References 17 publications

Hereditary ovarian carcinoma: Heterogeneity, molecular genetics, pathology, and management

Hereditary ovarian carcinoma: Heterogeneity, molecular genetics, pathology, and management

Relationship of epithelial ovarian cancer to other malignancies within families

Patterns of inheritance of ovarian cancer. An analysis from an ovarian cancer screening program

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