Family history and risk of bladder cancer: an analysis accounting for first- and second-degree relatives

Objective We aimed to investigate whether patients with polycystic ovary syndrome (PCOS) and a family history (FH) of type 2 diabetes mellitus (T2DM) are at increased risk of endocrinological and metabolic abnormalities, and whether this risk differs between first-degree and second-degree relatives, and between maternal and paternal transmission. Methods A total of 680 patients with PCOS were enrolled in this retrospective, single-center study. Endocrine and glycolipid metabolism parameters were compared. Results The free androgen index (FAI), and levels of fasting blood glucose (FBG), fasting insulin (FINS), homeostatic model assessment-insulin resistance (HOMA-IR), total cholesterol (TC), and low-density lipoprotein cholesterol were significantly higher, whereas sex hormone binding globulin (SHBG) levels were significantly lower in patients with PCOS and a FH of T2DM. In patients with PCOS with a FH of T2DM in first-degree relatives, age and levels of FBG, FINS, and HOMA-IR were significantly higher than those who had a FH of T2DM in second-degree relatives. A maternal history of T2DM was associated with a higher body mass index, FAI, and TG levels, and lower SHBG levels. Conclusions Patients with PCOS and a FH of T2DM have more severe hyperandrogenism and metabolic disorders, especially in those with maternal transmission.

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Familial colorectal cancer risk in half siblings and siblings: nationwide cohort study

BMJ ◽

10.1136/bmj.l803 ◽

2019 ◽

pp. l803 ◽

Cited By ~ 6

Author(s):

Yu Tian ◽

Elham Kharazmi ◽

Kristina Sundquist ◽

Jan Sundquist ◽

Hermann Brenner ◽

...

Keyword(s):

Colorectal Cancer ◽

Cohort Study ◽

Family History ◽

Cancer Risk ◽

Confidence Interval ◽

Cumulative Risk ◽

Degree Relative ◽

History Of ◽

Half Sibling ◽

Second Degree

AbstractObjectiveTo explore the risk of colorectal cancer in family members of patients with colorectal cancer, with an emphasis on subtypes of second degree relatives, especially half siblings, which were lacking in the literature.DesignAmbidirectional cohort study.SettingNationwide Swedish Family Cancer Data (record linkage).ParticipantsAll people residing in Sweden and born after 1931, with their biological parents, totalling >16 million individuals (follow-up: 1958-2015); of those with clear genealogy, 173 796 developed colorectal cancer.Main outcome measuresLifetime (0-79 years) cumulative risk and standardised incidence ratio of colorectal cancer among first degree relatives and second degree relatives.ResultsThe overall lifetime cumulative risk of colorectal cancer in siblings of patients was 7%, which represents a 1.7-fold (95% confidence interval 1.6 to 1.7; n=2089) increase over the risk in those without any family history of colorectal cancer. A similarly increased lifetime cumulative risk (6%) was found among half siblings (standardised incidence ratio 1.5, 95% confidence interval 1.3 to 1.8; n=140). The risk in people with colorectal cancer in both a parent and a half sibling (standardised incidence ratio 3.6, 2.4 to 5.0; n=32) was close to the risk in those with both an affected parent and an affected sibling (2.7, 2.4 to 3.0; n=396). Family history of colorectal cancer in only one second degree relative other than a half sibling (without any affected first degree relatives), such as a grandparent, uncle, or aunt, showed minor association with the risk of colorectal cancer.ConclusionFamily history of colorectal cancer in half siblings is similarly associated with colorectal cancer risk to that in siblings. The increase in risk of colorectal cancer among people with one affected second degree relative was negligible, except for half siblings, but the risk was substantially increased for a combination of family history in one affected second degree relative and an affected first degree relative (or even another second degree relative). These evidence based findings provide novel information to help to identify people at high risk with a family history of colorectal cancer that can potentially be used for risk adapted screening.

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RISK OF BLADDER CANCER ASSOCIATED WITH FAMILY HISTORY OF CANCER: DO LOW-PENETRANCE POLYMORPHISMS ACCOUNT FOR THE INCRESE IN RISK?

The Journal of Urology ◽

10.1016/s0022-5347(08)60944-1 ◽

2008 ◽

Vol 179 (4S) ◽

pp. 322-323

Author(s):

Dario Garcia-Rojo ◽

Nuria Malats ◽

Cristine Murta-Nascimento ◽

Debra T Silverman ◽

Juan Prats ◽

...

Keyword(s):

Bladder Cancer ◽

Family History ◽

Family History Of Cancer ◽

History Of ◽

History Of Cancer

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Characterization of family history profiles in a large series of Lynch syndrome carriers.

Journal of Clinical Oncology ◽

10.1200/jco.2014.32.3_suppl.414 ◽

2014 ◽

Vol 32 (3_suppl) ◽

pp. 414-414

Author(s):

Devki Saraiya ◽

Sara J. Wiyrick ◽

Barry S. Tong ◽

Kelsey Moyes ◽

Elizabeth Garner

Keyword(s):

Genetic Testing ◽

Family History ◽

Lynch Syndrome ◽

Single Gene ◽

Healthcare Providers ◽

Degree Relative ◽

Large Rearrangement ◽

Full Sequence ◽

Bethesda Criteria ◽

Second Degree

414 Background: The identification of Lynch syndrome carriers is an unmet medical need. Large studies characterizing family history profiles of unaffected individuals diagnosed with Lynch syndrome in the absence of a known family mutation have not been reported. Methods: We queried our laboratory database for unaffected patients who underwent Lynch syndrome genetic testing between September 2010 and May 2013 and had a positive test result. All individuals underwent full sequence and large rearrangement analysis of MLH1 and MSH2, and full sequence analysis of MSH6. Some patients also underwent full sequence and large rearrangement analysis of PMS2 and large rearrangement analysis of MSH6 and EPCAM. Those being tested for a known mutation in the family and patients undergoing single gene testing were excluded. We assessed family history profiles in 200 unaffected patients with genetically confirmed Lynch syndrome. Results: Of the 200 patients, 162 female and 38 male Lynch syndrome carriers were identified. Mutations in MLH1 and MSH2 were the most common (30.0% and 32.5%) while mutations in MSH6, PMS2, and EPCAM accounted for 21.0%, 13.5%, and 3.0% of all deleterious mutations, respectively. Eighteen patients did not have a first or second degree relative with colorectal cancer. Only 37.8% (73/193) of individuals had a first- or second-degree relative meeting the Amsterdam II criteria and 76.8 % (149/194) of individuals had a first or second degree relative meeting the Revised Bethesda criteria. The average PREMM1,2,6 score was 10.0% with 43.5% (87/200) falling below 5%. In this large cohort, 15.5% (31/200) had neither a first or second degree relative who met the Amsterdam II or Revised Bethesda criteria nor a PREMM1,2,6 score of 5% or greater. Conclusions: In order to improve detection of Lynch syndrome in the population, it is important to consider genetic testing in unaffected individuals even in the absence of a known family mutation. Development of guidelines that include having a single affected relative and extra-colonic cancers is needed to support healthcare providers in identifying appropriate patients for testing.

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Maternal and paternal family history of diabetes in second-degree relatives and metabolic outcomes at age 5–6 years: The ABCD Study

Diabetes & Metabolism ◽

10.1016/j.diabet.2017.01.003 ◽

2017 ◽

Vol 43 (4) ◽

pp. 338-344

Author(s):

A.J.J.M. Oostvogels ◽

C.P. Landstra ◽

L. Britsemmer ◽

R. Lodewijkx ◽

K. Stronks ◽

...

Keyword(s):

Family History ◽

Family History Of Diabetes ◽

Metabolic Outcomes ◽

History Of ◽

Second Degree

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Younger age of patients with myocardial infarction is associated with a higher number of relatives with a history of premature atherosclerosis

BMC Cardiovascular Disorders ◽

10.1186/s12872-020-01677-w ◽

2020 ◽

Vol 20 (1) ◽

Author(s):

Michał Ambroziak ◽

Katarzyna Niewczas-Wieprzowska ◽

Agnieszka Maicka ◽

Andrzej Budaj

Keyword(s):

Myocardial Infarction ◽

Family History ◽

Young People ◽

Ischaemic Stroke ◽

Premature Coronary Artery Disease ◽

Premature Atherosclerosis ◽

Younger Age ◽

The Family ◽

History Of ◽

Second Degree

Abstract Background Premature coronary artery disease is one of the most pressing global issues in modern cardiology. The aim of the study was to investigate the role of family history of premature cardiovascular disease (CVD) in patients aged < 50 years with myocardial infarction (MI) compared to that in patients aged ≥50 years with MI and to that in young people without MI (no-MI < 50). Methods The studied group (MI < 50) consisted of 240 patients aged 26–49 years with MI. The control groups consisted of 240 patients (MI ≥ 50) with MI aged 50–92 years and 240 healthy people aged 30–49 years without a history of MI (no-MI < 50). Results There were statistically significant differences between the MI < 50 and MI ≥ 50 and no-MI < 50 groups regarding the family history of premature MI/ischaemic stroke and the percentage of patients with ≥2 relatives affected (10.8, 2.9, and 3.7%, respectively; p < 0.0001). There was a statistically significant difference in the patient age at the first MI occurrence among patients without a family history of premature CVD, those with 1 affected relative, and those with ≥2 affected first-degree relatives (56.6, 48.6 and 41.8 years, respectively) as well as those with affected first- and second-degree relatives (56.5, 50.7 and 47.0 years, respectively). Conclusions A younger age of patients with myocardial infarction is associated with a higher number of relatives with a history of premature MI/ischaemic stroke. Thus, the family history of premature atherosclerosis involving not only first- but also second-degree relatives seems to be a valuable factor in CVD risk evaluation in young people. Graphical Abstract

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Second-degree family history and breast cancer

European Journal of Cancer ◽

10.1016/s0959-8049(98)80101-9 ◽

1998 ◽

Vol 34 ◽

pp. S25

Author(s):

R.M. de Souza ◽

A.R. Lazzaron ◽

R. Defferrari ◽

A.A. Borba ◽

L. Scherer ◽

...

Keyword(s):

Breast Cancer ◽

Family History ◽

Second Degree

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Ancestral Secondary Cases on Paternal and Maternal Sides in Bipolar Affective Illness

The British Journal of Psychiatry ◽

10.1192/bjp.133.1.68 ◽

1978 ◽

Vol 133 (1) ◽

pp. 68-72 ◽

Cited By ~ 3

Author(s):

G. F. S. Johnson ◽

M. M. Leeman

Keyword(s):

Family History ◽

Depressive Disorder ◽

Dominant Gene ◽

Single Dominant Gene ◽

Polygenic Inheritance ◽

Positive Group ◽

Affective Illness ◽

Manic Depressive ◽

Second Degree

SummaryAn analysis of the distribution of ancestral secondary cases of affective illness in families of patients with bipolar manic-depressive disorder was undertaken. Twenty probands with at least two affectively ill second degree relatives were available for study. Probands with both parents affected were excluded. The distribution of unilateral to bilateral pairs of all affected relatives, both excluding and including parents, of probands showed no significant differences from that expected in polygenic inheritance. However, separation into bipolar family history, positive or negative, showed significant differences from the expected ratio of unilateral to bilateral pairs in a bipolar family history positive group consistent with a single dominant gene inheritance.

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